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Published in: Heart Failure Reviews 2/2024

02-12-2023 | Cardiomyopathy

Multidisciplinary approach in cardiomyopathies: From genetics to advanced imaging

Authors: Francesco Santoro, Enrica Vitale, Ilaria Ragnatela, Rosa Cetera, Alessandra Leopzzi, Adriana Mallardi, Annalisa Matera, Marco Mele, Michele Correale, Natale Daniele Brunetti

Published in: Heart Failure Reviews | Issue 2/2024

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Abstract

Cardiomyopathies are myocardial diseases characterized by mechanical and electrical dysfunction of the heart muscle which could lead to heart failure and life-threatening arrhythmias. Certainly, an accurate anamnesis, a meticulous physical examination, and an ECG are cornerstones in raising the diagnostic suspicion. However, cardiovascular imaging techniques are indispensable to diagnose a specific cardiomyopathy, to stratify the risk related to the disease and even to track the response to the therapy. Echocardiography is often the first exam that the patient undergoes, because of its non-invasiveness, wide availability, and cost-effectiveness. Cardiac magnetic resonance imaging allows to integrate and implement the information obtained with the echography. Furthermore, cardiomyopathies’ genetic basis has been investigated over the years and the list of genetic mutations deemed potentially pathogenic is expected to grow further. The aim of this review is to show echocardiographic, cardiac magnetic resonance imaging, and genetic features of several cardiomyopathies: dilated cardiomyopathy (DMC), hypertrophic cardiomyopathy (HCM), arrhythmogenic cardiomyopathy (ACM), left ventricular noncompaction cardiomyopathy (LVNC), myocarditis, and takotsubo cardiomyopathy.
Literature
1.
go back to reference Arbelo E, Protonotarios A, Gimeno JR, Arbustini E, Barriales-Villa R, Basso C, Bezzina CR, Biagini E, Blom NA, de Boer RA, De Winter T, Elliott PM, Flather M, Garcia-Pavia P, Haugaa KH, Ingles J, Jurcut RO, Klaassen S, Limongelli G, Loeys B, Mogensen J, Olivotto I, Pantazis A, Sharma S, Van Tintelen JP, Ware JS, Kaski JP, ESC Scientific Document Group (2023) 2023 ESC Guidelines for the management of cardiomyopathies. Eur Heart J 44(37):3503–3626 Arbelo E, Protonotarios A, Gimeno JR, Arbustini E, Barriales-Villa R, Basso C, Bezzina CR, Biagini E, Blom NA, de Boer RA, De Winter T, Elliott PM, Flather M, Garcia-Pavia P, Haugaa KH, Ingles J, Jurcut RO, Klaassen S, Limongelli G, Loeys B, Mogensen J, Olivotto I, Pantazis A, Sharma S, Van Tintelen JP, Ware JS, Kaski JP, ESC Scientific Document Group (2023) 2023 ESC Guidelines for the management of cardiomyopathies. Eur Heart J 44(37):3503–3626
2.
go back to reference Zeppenfeld K, Tfelt-Hansen J, de Riva M, Winkel BG, Behr ER, Blom NA, Charron P, Corrado D, Dagres N, de Chillou C, Eckardt L, Friede T, Haugaa KH, Hocini M, Lambiase PD, Marijon E, Merino JL, Peichl P, Priori SG, Reichlin T, Schulz-Menger J, Sticherling C, Tzeis S, Verstrael A, Volterrani M, ESC Scientific Document Group (2022) 2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Eur Heart J 43(40):3997–4126 Zeppenfeld K, Tfelt-Hansen J, de Riva M, Winkel BG, Behr ER, Blom NA, Charron P, Corrado D, Dagres N, de Chillou C, Eckardt L, Friede T, Haugaa KH, Hocini M, Lambiase PD, Marijon E, Merino JL, Peichl P, Priori SG, Reichlin T, Schulz-Menger J, Sticherling C, Tzeis S, Verstrael A, Volterrani M, ESC Scientific Document Group (2022) 2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Eur Heart J 43(40):3997–4126
3.
go back to reference Pinto YM, Elliott PM, Arbustini E, Adler Y, Anastasakis A, Böhm M, Duboc D, Gimeno J, de Groote P, Imazio M, Heymans S, Klingel K, Komajda M, Limongelli G, Linhart A, Mogensen J, Moon J, Pieper PG, Seferovic PM, Schueler S, Zamorano JL, Caforio AL, Charron P (2016) Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases. Eur Heart J 37(23):1850–1858PubMedCrossRef Pinto YM, Elliott PM, Arbustini E, Adler Y, Anastasakis A, Böhm M, Duboc D, Gimeno J, de Groote P, Imazio M, Heymans S, Klingel K, Komajda M, Limongelli G, Linhart A, Mogensen J, Moon J, Pieper PG, Seferovic PM, Schueler S, Zamorano JL, Caforio AL, Charron P (2016) Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases. Eur Heart J 37(23):1850–1858PubMedCrossRef
4.
go back to reference Japp AG, Gulati A, Cook SA, Cowie MR, Prasad SK (2016) The diagnosis and evaluation of dilated cardiomyopathy. J Am Coll Cardiol 67(25):2996–3010PubMedCrossRef Japp AG, Gulati A, Cook SA, Cowie MR, Prasad SK (2016) The diagnosis and evaluation of dilated cardiomyopathy. J Am Coll Cardiol 67(25):2996–3010PubMedCrossRef
5.
go back to reference Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, Moss AJ, Seidman CE, Young JB, American Heart Association, Council on Clinical Cardiology, Heart Failure and Transplantation Committee, Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups, Council on Epidemiology and Prevention (2006) Contemporary definitions and classification of the cardiomyopathies: an American Heart Association scientific statement from the council on clinical cardiology, heart failure and transplantation committee; quality of care and outcomes research and functional genomics and translational biology interdisciplinary working groups; and council on epidemiology and prevention. Circulation 113(14):1807–1816 Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, Moss AJ, Seidman CE, Young JB, American Heart Association, Council on Clinical Cardiology, Heart Failure and Transplantation Committee, Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups, Council on Epidemiology and Prevention (2006) Contemporary definitions and classification of the cardiomyopathies: an American Heart Association scientific statement from the council on clinical cardiology, heart failure and transplantation committee; quality of care and outcomes research and functional genomics and translational biology interdisciplinary working groups; and council on epidemiology and prevention. Circulation 113(14):1807–1816
6.
go back to reference Taylor MR, Carniel E, Mestroni L (2006) Cardiomyopathy, familial dilated. Orphanet J Rare Dis 13(1):27CrossRef Taylor MR, Carniel E, Mestroni L (2006) Cardiomyopathy, familial dilated. Orphanet J Rare Dis 13(1):27CrossRef
8.
go back to reference Gigli M, Merlo M, Graw SL, Barbati G, Rowland TJ, Slavov DB, Stolfo D, Haywood ME, Dal Ferro M, Altinier A, Ramani F, Brun F, Cocciolo A, Puggia I, Morea G, McKenna WJ, La Rosa FG, Taylor MRG, Sinagra G, Mestroni L (2019) Genetic risk of arrhythmic phenotypes in patients with dilated cardiomyopathy. J Am Coll Cardiol 74(11):1480–1490PubMedPubMedCentralCrossRef Gigli M, Merlo M, Graw SL, Barbati G, Rowland TJ, Slavov DB, Stolfo D, Haywood ME, Dal Ferro M, Altinier A, Ramani F, Brun F, Cocciolo A, Puggia I, Morea G, McKenna WJ, La Rosa FG, Taylor MRG, Sinagra G, Mestroni L (2019) Genetic risk of arrhythmic phenotypes in patients with dilated cardiomyopathy. J Am Coll Cardiol 74(11):1480–1490PubMedPubMedCentralCrossRef
9.
go back to reference Caforio AL, Mahon NG, Baig MK, Tona F, Murphy RT, Elliott PM, McKenna WJ (2007) Prospective familial assessment in dilated cardiomyopathy: cardiac autoantibodies predict disease development in asymptomatic relatives. Circulation 115(1):76–83PubMedCrossRef Caforio AL, Mahon NG, Baig MK, Tona F, Murphy RT, Elliott PM, McKenna WJ (2007) Prospective familial assessment in dilated cardiomyopathy: cardiac autoantibodies predict disease development in asymptomatic relatives. Circulation 115(1):76–83PubMedCrossRef
10.
go back to reference Yancy CW, Jessup M, Bozkurt B, Butler J, Casey DE Jr, Drazner MH, Fonarow GC, Geraci SA, Horwich T, Januzzi JL, Johnson MR, Kasper EK, Levy WC, Masoudi FA, McBride PE, McMurray JJ, Mitchell JE, Peterson PN, Riegel B, Sam F, Stevenson LW, Tang WH, Tsai EJ, Wilkoff BL, American College of Cardiology Foundation, American Heart Association Task Force on Practice Guidelines (2013) 2013 ACCF/AHA guideline for the management of heart failure: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. J Am Coll Cardiol 62(16):e147–239 Yancy CW, Jessup M, Bozkurt B, Butler J, Casey DE Jr, Drazner MH, Fonarow GC, Geraci SA, Horwich T, Januzzi JL, Johnson MR, Kasper EK, Levy WC, Masoudi FA, McBride PE, McMurray JJ, Mitchell JE, Peterson PN, Riegel B, Sam F, Stevenson LW, Tang WH, Tsai EJ, Wilkoff BL, American College of Cardiology Foundation, American Heart Association Task Force on Practice Guidelines (2013) 2013 ACCF/AHA guideline for the management of heart failure: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. J Am Coll Cardiol 62(16):e147–239
11.
go back to reference Tayal U, Ware JS, Lakdawala NK, Heymans S, Prasad SK (2021) Understanding the genetics of adult-onset dilated cardiomyopathy: what a clinician needs to know. Eur Heart J 42(24):2384–2396PubMedPubMedCentralCrossRef Tayal U, Ware JS, Lakdawala NK, Heymans S, Prasad SK (2021) Understanding the genetics of adult-onset dilated cardiomyopathy: what a clinician needs to know. Eur Heart J 42(24):2384–2396PubMedPubMedCentralCrossRef
12.
go back to reference Charron P, Arad M, Arbustini E, Basso C, Bilinska Z, Elliott P, Helio T, Keren A, McKenna WJ, Monserrat L, Pankuweit S, Perrot A, Rapezzi C, Ristic A, Seggewiss H, van Langen I, Tavazzi L, European Society of Cardiology Working Group on Myocardial and Pericardial Diseases (2010) Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 31(22):2715–2726 Charron P, Arad M, Arbustini E, Basso C, Bilinska Z, Elliott P, Helio T, Keren A, McKenna WJ, Monserrat L, Pankuweit S, Perrot A, Rapezzi C, Ristic A, Seggewiss H, van Langen I, Tavazzi L, European Society of Cardiology Working Group on Myocardial and Pericardial Diseases (2010) Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 31(22):2715–2726
13.
14.
go back to reference Mitropoulou P, Georgiopoulos G, Figliozzi S, Klettas D, Nicoli F, Masci PG (2020) Multi-modality imaging in dilated cardiomyopathy: with a focus on the role of cardiac magnetic resonance. Front Cardiovasc Med 7:97PubMedPubMedCentralCrossRef Mitropoulou P, Georgiopoulos G, Figliozzi S, Klettas D, Nicoli F, Masci PG (2020) Multi-modality imaging in dilated cardiomyopathy: with a focus on the role of cardiac magnetic resonance. Front Cardiovasc Med 7:97PubMedPubMedCentralCrossRef
15.
go back to reference Katbeh A, Van Camp G, Barbato E, Galderisi M, Trimarco B, Bartunek J, Vanderheyden M, Penicka M (2019) Cardiac resynchronization therapy optimization: a comprehensive approach. Cardiology 142(2):116–128PubMedCrossRef Katbeh A, Van Camp G, Barbato E, Galderisi M, Trimarco B, Bartunek J, Vanderheyden M, Penicka M (2019) Cardiac resynchronization therapy optimization: a comprehensive approach. Cardiology 142(2):116–128PubMedCrossRef
16.
go back to reference Jenkins C, Bricknell K, Hanekom L, Marwick TH (2004) Reproducibility and accuracy of echocardiographic measurements of left ventricular parameters using real-time three-dimensional echocardiography. J Am Coll Cardiol 44(4):878–886PubMedCrossRef Jenkins C, Bricknell K, Hanekom L, Marwick TH (2004) Reproducibility and accuracy of echocardiographic measurements of left ventricular parameters using real-time three-dimensional echocardiography. J Am Coll Cardiol 44(4):878–886PubMedCrossRef
17.
go back to reference Wu VC, Takeuchi M (2017) Three-dimensional echocardiography: current status and real-life applications. Acta Cardiol Sin 33(2):107–118PubMedPubMedCentral Wu VC, Takeuchi M (2017) Three-dimensional echocardiography: current status and real-life applications. Acta Cardiol Sin 33(2):107–118PubMedPubMedCentral
18.
go back to reference Sengeløv M, Jørgensen PG, Jensen JS, Bruun NE, Olsen FJ, Fritz-Hansen T, Nochioka K, Biering-Sørensen T (2015) Global longitudinal strain is a superior predictor of all-cause mortality in heart failure with reduced ejection fraction. JACC Cardiovasc Imaging 8(12):1351–1359PubMedCrossRef Sengeløv M, Jørgensen PG, Jensen JS, Bruun NE, Olsen FJ, Fritz-Hansen T, Nochioka K, Biering-Sørensen T (2015) Global longitudinal strain is a superior predictor of all-cause mortality in heart failure with reduced ejection fraction. JACC Cardiovasc Imaging 8(12):1351–1359PubMedCrossRef
19.
go back to reference Haugaa KH, Goebel B, Dahlslett T, Meyer K, Jung C, Lauten A, Figulla HR, Poerner TC, Edvardsen T (2012) Risk assessment of ventricular arrhythmias in patients with nonischemic dilated cardiomyopathy by strain echocardiography. J Am Soc Echocardiogr 25(6):667–673PubMedCrossRef Haugaa KH, Goebel B, Dahlslett T, Meyer K, Jung C, Lauten A, Figulla HR, Poerner TC, Edvardsen T (2012) Risk assessment of ventricular arrhythmias in patients with nonischemic dilated cardiomyopathy by strain echocardiography. J Am Soc Echocardiogr 25(6):667–673PubMedCrossRef
20.
go back to reference Potter E, Marwick TH (2018) Assessment of left ventricular function by echocardiography: the case for routinely adding global longitudinal strain to ejection fraction. JACC Cardiovasc Imaging 11(2 Pt 1):260–274PubMedCrossRef Potter E, Marwick TH (2018) Assessment of left ventricular function by echocardiography: the case for routinely adding global longitudinal strain to ejection fraction. JACC Cardiovasc Imaging 11(2 Pt 1):260–274PubMedCrossRef
21.
go back to reference Jung IH, Park JH, Lee JA, Kim GS, Lee HY, Byun YS, Kim BO (2020) Left ventricular global longitudinal strain as a predictor for left ventricular reverse remodeling in dilated cardiomyopathy. J Cardiovasc Imaging 28(2):137–149PubMedPubMedCentralCrossRef Jung IH, Park JH, Lee JA, Kim GS, Lee HY, Byun YS, Kim BO (2020) Left ventricular global longitudinal strain as a predictor for left ventricular reverse remodeling in dilated cardiomyopathy. J Cardiovasc Imaging 28(2):137–149PubMedPubMedCentralCrossRef
22.
go back to reference McDonagh TA, Metra M, Adamo M, Gardner RS, Baumbach A, Böhm M, Burri H, Butler J, Čelutkienė J, Chioncel O, Cleland JGF, Coats AJS, Crespo-Leiro MG, Farmakis D, Gilard M, Heymans S, Hoes AW, Jaarsma T, Jankowska EA, Lainscak M, Lam CSP, Lyon AR, McMurray JJV, Mebazaa A, Mindham R, Muneretto C, Francesco Piepoli M, Price S, Rosano GMC, Ruschitzka F, Kathrine Skibelund A, ESC Scientific Document Group (2021) 2021 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure. Eur Heart J 42(36):3599–3726 McDonagh TA, Metra M, Adamo M, Gardner RS, Baumbach A, Böhm M, Burri H, Butler J, Čelutkienė J, Chioncel O, Cleland JGF, Coats AJS, Crespo-Leiro MG, Farmakis D, Gilard M, Heymans S, Hoes AW, Jaarsma T, Jankowska EA, Lainscak M, Lam CSP, Lyon AR, McMurray JJV, Mebazaa A, Mindham R, Muneretto C, Francesco Piepoli M, Price S, Rosano GMC, Ruschitzka F, Kathrine Skibelund A, ESC Scientific Document Group (2021) 2021 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure. Eur Heart J 42(36):3599–3726
23.
go back to reference Petersen SE, Khanji MY, Plein S, Lancellotti P, Bucciarelli-Ducci C (2019) European Association of Cardiovascular Imaging expert consensus paper: a comprehensive review of cardiovascular magnetic resonance normal values of cardiac chamber size and aortic root in adults and recommendations for grading severity. Eur Heart J Cardiovasc Imaging 20(12):1321–1331 Petersen SE, Khanji MY, Plein S, Lancellotti P, Bucciarelli-Ducci C (2019) European Association of Cardiovascular Imaging expert consensus paper: a comprehensive review of cardiovascular magnetic resonance normal values of cardiac chamber size and aortic root in adults and recommendations for grading severity. Eur Heart J Cardiovasc Imaging 20(12):1321–1331
24.
go back to reference Merlo M, Gagno G, Baritussio A, Bauce B, Biagini E, Canepa M, Cipriani A, Castelletti S, Dellegrottaglie S, Guaricci AI, Imazio M, Limongelli G, Musumeci MB, Parisi V, Pica S, Pontone G, Todiere G, Torlasco C, Basso C, Sinagra G, Filardi PP, Indolfi C, Autore C, Barison A (2023) Clinical application of CMR in cardiomyopathies: evolving concepts and techniques: a position paper of myocardial and pericardial diseases and cardiac magnetic resonance working groups of Italian society of cardiology. Heart Fail Rev 28(1):77–95PubMedCrossRef Merlo M, Gagno G, Baritussio A, Bauce B, Biagini E, Canepa M, Cipriani A, Castelletti S, Dellegrottaglie S, Guaricci AI, Imazio M, Limongelli G, Musumeci MB, Parisi V, Pica S, Pontone G, Todiere G, Torlasco C, Basso C, Sinagra G, Filardi PP, Indolfi C, Autore C, Barison A (2023) Clinical application of CMR in cardiomyopathies: evolving concepts and techniques: a position paper of myocardial and pericardial diseases and cardiac magnetic resonance working groups of Italian society of cardiology. Heart Fail Rev 28(1):77–95PubMedCrossRef
25.
go back to reference Markousis-Mavrogenis G, Giannakopoulou A, Belegrinos A, Pons MR, Bonou M, Vartela V, Papavasiliou A, Christidi A, Kourtidou S, Kolovou G, Bacopoulou F, Chrousos GP, Mavrogeni SI (2022) Cardiovascular magnetic resonance imaging patterns in rare cardiovascular diseases. J Clin Med 11(21):6403PubMedPubMedCentralCrossRef Markousis-Mavrogenis G, Giannakopoulou A, Belegrinos A, Pons MR, Bonou M, Vartela V, Papavasiliou A, Christidi A, Kourtidou S, Kolovou G, Bacopoulou F, Chrousos GP, Mavrogeni SI (2022) Cardiovascular magnetic resonance imaging patterns in rare cardiovascular diseases. J Clin Med 11(21):6403PubMedPubMedCentralCrossRef
26.
go back to reference Haas GJ, Zareba KM, Ni H, Bello-Pardo E, Huggins GS, Hershberger RE, Study Principal Investigator (PI) and Co-Investigators: The Ohio State University (2022) Validating an idiopathic dilated cardiomyopathy diagnosis using cardiovascular magnetic resonance: the dilated cardiomyopathy precision medicine study. Circ Heart Fail15(5):e008877 Haas GJ, Zareba KM, Ni H, Bello-Pardo E, Huggins GS, Hershberger RE, Study Principal Investigator (PI) and Co-Investigators: The Ohio State University (2022) Validating an idiopathic dilated cardiomyopathy diagnosis using cardiovascular magnetic resonance: the dilated cardiomyopathy precision medicine study. Circ Heart Fail15(5):e008877
27.
go back to reference Sueyoshi E, Sakamoto I, Uetani M (2010) Contrast-enhanced myocardial inversion time at the null point for detection of left ventricular myocardial fibrosis in patients with dilated and hypertrophic cardiomyopathy: a pilot study. AJR Am J Roentgenol 194(4):W293–W298PubMedCrossRef Sueyoshi E, Sakamoto I, Uetani M (2010) Contrast-enhanced myocardial inversion time at the null point for detection of left ventricular myocardial fibrosis in patients with dilated and hypertrophic cardiomyopathy: a pilot study. AJR Am J Roentgenol 194(4):W293–W298PubMedCrossRef
28.
go back to reference Han Y, Peters DC, Dokhan B, Manning WJ (2009) Shorter difference between myocardium and blood optimal inversion time suggests diffuse fibrosis in dilated cardiomyopathy. J Magn Reson Imaging 30(5):967–972PubMedPubMedCentralCrossRef Han Y, Peters DC, Dokhan B, Manning WJ (2009) Shorter difference between myocardium and blood optimal inversion time suggests diffuse fibrosis in dilated cardiomyopathy. J Magn Reson Imaging 30(5):967–972PubMedPubMedCentralCrossRef
29.
go back to reference Lagan J, Schmitt M, Miller CA (2018) Clinical applications of multi-parametric CMR in myocarditis and systemic inflammatory diseases. Int J Cardiovasc Imaging 34(1):35–54PubMedCrossRef Lagan J, Schmitt M, Miller CA (2018) Clinical applications of multi-parametric CMR in myocarditis and systemic inflammatory diseases. Int J Cardiovasc Imaging 34(1):35–54PubMedCrossRef
30.
go back to reference Leyva F, Foley PW, Chalil S, Ratib K, Smith RE, Prinzen F, Auricchio A (2011) Cardiac resynchronization therapy guided by late gadolinium-enhancement cardiovascular magnetic resonance. J Cardiovasc Magn Reson13(1):29 Leyva F, Foley PW, Chalil S, Ratib K, Smith RE, Prinzen F, Auricchio A (2011) Cardiac resynchronization therapy guided by late gadolinium-enhancement cardiovascular magnetic resonance. J Cardiovasc Magn Reson13(1):29
31.
go back to reference Barison A, Aimo A, Ortalda A, Todiere G, Grigoratos C, Passino C, Camici PG, Aquaro GD, Emdin M (2018) Late gadolinium enhancement as a predictor of functional recovery, need for defibrillator implantation and prognosis in non-ischemic dilated cardiomyopathy. Int J Cardiol 250:195–200PubMedCrossRef Barison A, Aimo A, Ortalda A, Todiere G, Grigoratos C, Passino C, Camici PG, Aquaro GD, Emdin M (2018) Late gadolinium enhancement as a predictor of functional recovery, need for defibrillator implantation and prognosis in non-ischemic dilated cardiomyopathy. Int J Cardiol 250:195–200PubMedCrossRef
32.
go back to reference Rapezzi C, Arbustini E, Caforio AL, Charron P, Gimeno-Blanes J, Heliö T, Linhart A, Mogensen J, Pinto Y, Ristic A, Seggewiss H, Sinagra G, Tavazzi L, Elliott PM (2013) Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases. Eur Heart J 34(19):1448–1458 Rapezzi C, Arbustini E, Caforio AL, Charron P, Gimeno-Blanes J, Heliö T, Linhart A, Mogensen J, Pinto Y, Ristic A, Seggewiss H, Sinagra G, Tavazzi L, Elliott PM (2013) Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases. Eur Heart J 34(19):1448–1458
33.
go back to reference Turvey L, Augustine DX, Robinson S, Oxborough D, Stout M, Smith N, Harkness A, Williams L, Steeds RP, Bradlow W (2021) Transthoracic echocardiography of hypertrophic cardiomyopathy in adults: a practical guideline from the British Society of Echocardiography. Echo Res Pract 8(1):G61–G86PubMedPubMedCentralCrossRef Turvey L, Augustine DX, Robinson S, Oxborough D, Stout M, Smith N, Harkness A, Williams L, Steeds RP, Bradlow W (2021) Transthoracic echocardiography of hypertrophic cardiomyopathy in adults: a practical guideline from the British Society of Echocardiography. Echo Res Pract 8(1):G61–G86PubMedPubMedCentralCrossRef
34.
go back to reference Heliö T, Elliott P, Koskenvuo JW, Gimeno JR, Tavazzi L, Tendera M, Kaski JP, Mansencal N, Bilińska Z, Carr-White G, Damy T, Frustaci A, Kindermann I, Ripoll-Vera T, Čelutkienė J, Axelsson A, Lorenzini M, Saad A, Maggioni AP, Laroche C, Caforio ALP, Charron P, EORP Cardiomyopathy Registry Investigators Group (2020) ESC EORP Cardiomyopathy Registry: real-life practice of genetic counselling and testing in adult cardiomyopathy patients. ESC Heart Fail 7(5):3013–3021 Heliö T, Elliott P, Koskenvuo JW, Gimeno JR, Tavazzi L, Tendera M, Kaski JP, Mansencal N, Bilińska Z, Carr-White G, Damy T, Frustaci A, Kindermann I, Ripoll-Vera T, Čelutkienė J, Axelsson A, Lorenzini M, Saad A, Maggioni AP, Laroche C, Caforio ALP, Charron P, EORP Cardiomyopathy Registry Investigators Group (2020) ESC EORP Cardiomyopathy Registry: real-life practice of genetic counselling and testing in adult cardiomyopathy patients. ESC Heart Fail 7(5):3013–3021
35.
go back to reference Ho CY, Day SM, Ashley EA, Michels M, Pereira AC, Jacoby D, Cirino AL, Fox JC, Lakdawala NK, Ware JS, Caleshu CA, Helms AS, Colan SD, Girolami F, Cecchi F, Seidman CE, Sajeev G, Signorovitch J, Green EM, Olivotto I (2018) Genotype and lifetime burden of disease in hypertrophic cardiomyopathy: insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe). Circulation 138(14):1387–1398PubMedPubMedCentralCrossRef Ho CY, Day SM, Ashley EA, Michels M, Pereira AC, Jacoby D, Cirino AL, Fox JC, Lakdawala NK, Ware JS, Caleshu CA, Helms AS, Colan SD, Girolami F, Cecchi F, Seidman CE, Sajeev G, Signorovitch J, Green EM, Olivotto I (2018) Genotype and lifetime burden of disease in hypertrophic cardiomyopathy: insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe). Circulation 138(14):1387–1398PubMedPubMedCentralCrossRef
36.
go back to reference Kim HY, Park JE, Lee SC, Jeon ES, On YK, Kim SM, Choe YH, Ki CS, Kim JW, Kim KH (2020) Genotype-related clinical characteristics and myocardial fibrosis and their association with prognosis in hypertrophic cardiomyopathy. J Clin Med 9(6):1671PubMedPubMedCentralCrossRef Kim HY, Park JE, Lee SC, Jeon ES, On YK, Kim SM, Choe YH, Ki CS, Kim JW, Kim KH (2020) Genotype-related clinical characteristics and myocardial fibrosis and their association with prognosis in hypertrophic cardiomyopathy. J Clin Med 9(6):1671PubMedPubMedCentralCrossRef
37.
go back to reference Authors/Task Force members; Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, Charron P, Hagege AA, Lafont A, Limongelli G, Mahrholdt H, McKenna WJ, Mogensen J, Nihoyannopoulos P, Nistri S, Pieper PG, Pieske B, Rapezzi C, Rutten FH, Tillmanns C, Watkins H (2014) 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J 35(39):2733–2779 Authors/Task Force members; Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, Charron P, Hagege AA, Lafont A, Limongelli G, Mahrholdt H, McKenna WJ, Mogensen J, Nihoyannopoulos P, Nistri S, Pieper PG, Pieske B, Rapezzi C, Rutten FH, Tillmanns C, Watkins H (2014) 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J 35(39):2733–2779
38.
go back to reference Cardim N, Galderisi M, Edvardsen T, Plein S, Popescu BA, D’Andrea A, Bruder O, Cosyns B, Davin L, Donal E, Freitas A, Habib G, Kitsiou A, Petersen SE, Schroeder S, Lancellotti P, Camici P, Dulgheru R, Hagendorff A, Lombardi M, Muraru D, Sicari R (2015) Role of multimodality cardiac imaging in the management of patients with hypertrophic cardiomyopathy: an expert consensus of the European Association of Cardiovascular Imaging Endorsed by the Saudi Heart Association. Eur Heart J Cardiovasc Imaging 16(3):280PubMedCrossRef Cardim N, Galderisi M, Edvardsen T, Plein S, Popescu BA, D’Andrea A, Bruder O, Cosyns B, Davin L, Donal E, Freitas A, Habib G, Kitsiou A, Petersen SE, Schroeder S, Lancellotti P, Camici P, Dulgheru R, Hagendorff A, Lombardi M, Muraru D, Sicari R (2015) Role of multimodality cardiac imaging in the management of patients with hypertrophic cardiomyopathy: an expert consensus of the European Association of Cardiovascular Imaging Endorsed by the Saudi Heart Association. Eur Heart J Cardiovasc Imaging 16(3):280PubMedCrossRef
39.
go back to reference Mandeş L, Roşca M, Ciupercă D, Popescu BA (2020) The role of echocardiography for diagnosis and prognostic stratification in hypertrophic cardiomyopathy. J Echocardiogr 18(3):137–148PubMedPubMedCentralCrossRef Mandeş L, Roşca M, Ciupercă D, Popescu BA (2020) The role of echocardiography for diagnosis and prognostic stratification in hypertrophic cardiomyopathy. J Echocardiogr 18(3):137–148PubMedPubMedCentralCrossRef
40.
go back to reference Santoro F, Mango F, Mallardi A, D’Alessandro D, Casavecchia G, Gravina M, Correale M, Brunetti ND (2023) Arrhythmic Risk Stratification among Patients with Hypertrophic Cardiomyopathy. J Clin Med 12(10):3397PubMedPubMedCentralCrossRef Santoro F, Mango F, Mallardi A, D’Alessandro D, Casavecchia G, Gravina M, Correale M, Brunetti ND (2023) Arrhythmic Risk Stratification among Patients with Hypertrophic Cardiomyopathy. J Clin Med 12(10):3397PubMedPubMedCentralCrossRef
41.
go back to reference Yang H, Sun JP, Lever HM, Popovic ZB, Drinko JK, Greenberg NL, Shiota T, Thomas JD, Garcia MJ (2003) Use of strain imaging in detecting segmental dysfunction in patients with hypertrophic cardiomyopathy. J Am Soc Echocardiogr 16(3):233–239PubMedCrossRef Yang H, Sun JP, Lever HM, Popovic ZB, Drinko JK, Greenberg NL, Shiota T, Thomas JD, Garcia MJ (2003) Use of strain imaging in detecting segmental dysfunction in patients with hypertrophic cardiomyopathy. J Am Soc Echocardiogr 16(3):233–239PubMedCrossRef
42.
go back to reference Rowin EJ, Maron BJ, Olivotto I, Maron MS (2017) Role of exercise testing in hypertrophic cardiomyopathy. JACC Cardiovasc Imaging 10(11):1374–1386PubMedCrossRef Rowin EJ, Maron BJ, Olivotto I, Maron MS (2017) Role of exercise testing in hypertrophic cardiomyopathy. JACC Cardiovasc Imaging 10(11):1374–1386PubMedCrossRef
43.
go back to reference Nagueh SF, Phelan D, Abraham T, Armour A, Desai MY, Dragulescu A, Gilliland Y, Lester SJ, Maldonado Y, Mohiddin S, Nieman K, Sperry BW, Woo A (2022) Recommendations for multimodality cardiovascular imaging of patients with hypertrophic cardiomyopathy: an update from the American Society of Echocardiography, in Collaboration with the American Society of Nuclear Cardiology, the Society for Cardiovascular Magnetic Resonance, and the Society of Cardiovascular Computed Tomography. J Am Soc Echocardiogr 35(6):533–569PubMedCrossRef Nagueh SF, Phelan D, Abraham T, Armour A, Desai MY, Dragulescu A, Gilliland Y, Lester SJ, Maldonado Y, Mohiddin S, Nieman K, Sperry BW, Woo A (2022) Recommendations for multimodality cardiovascular imaging of patients with hypertrophic cardiomyopathy: an update from the American Society of Echocardiography, in Collaboration with the American Society of Nuclear Cardiology, the Society for Cardiovascular Magnetic Resonance, and the Society of Cardiovascular Computed Tomography. J Am Soc Echocardiogr 35(6):533–569PubMedCrossRef
44.
go back to reference Rowin EJ, Maron BJ, Haas TS, Garberich RF, Wang W, Link MS, Maron MS (2017) Hypertrophic cardiomyopathy with left ventricular apical aneurysm: implications for risk stratification and management. J Am Coll Cardiol 69(7):761–773PubMedCrossRef Rowin EJ, Maron BJ, Haas TS, Garberich RF, Wang W, Link MS, Maron MS (2017) Hypertrophic cardiomyopathy with left ventricular apical aneurysm: implications for risk stratification and management. J Am Coll Cardiol 69(7):761–773PubMedCrossRef
45.
go back to reference Habib M, Adler A, Fardfini K, Hoss S, Hanneman K, Rowin EJ, Maron MS, Maron BJ, Rakowski H, Chan RH (2021) Progression of myocardial fibrosis in hypertrophic cardiomyopathy: a cardiac magnetic resonance study. JACC Cardiovasc Imaging 14(5):947–958PubMedCrossRef Habib M, Adler A, Fardfini K, Hoss S, Hanneman K, Rowin EJ, Maron MS, Maron BJ, Rakowski H, Chan RH (2021) Progression of myocardial fibrosis in hypertrophic cardiomyopathy: a cardiac magnetic resonance study. JACC Cardiovasc Imaging 14(5):947–958PubMedCrossRef
46.
go back to reference He D, Ye M, Zhang L, Jiang B (2018) Prognostic significance of late gadolinium enhancement on cardiac magnetic resonance in patients with hypertrophic cardiomyopathy. Nava Heart Lung 47(2):122–126CrossRef He D, Ye M, Zhang L, Jiang B (2018) Prognostic significance of late gadolinium enhancement on cardiac magnetic resonance in patients with hypertrophic cardiomyopathy. Nava Heart Lung 47(2):122–126CrossRef
47.
go back to reference Mentias A, Raeisi-Giglou P, Smedira NG, Feng K, Sato K, Wazni O, Kanj M, Flamm SD, Thamilarasan M, Popovic ZB, Lever HM, Desai MY (2018) Late gadolinium enhancement in patients with hypertrophic cardiomyopathy and preserved systolic function. J Am Coll Cardiol 72(8):857–870PubMedCrossRef Mentias A, Raeisi-Giglou P, Smedira NG, Feng K, Sato K, Wazni O, Kanj M, Flamm SD, Thamilarasan M, Popovic ZB, Lever HM, Desai MY (2018) Late gadolinium enhancement in patients with hypertrophic cardiomyopathy and preserved systolic function. J Am Coll Cardiol 72(8):857–870PubMedCrossRef
48.
go back to reference Basso C, Corrado D, Marcus FI (2009) A, Thiene G. Arrhythmogenic right ventricular cardiomyopathy Lancet 373(9671):1289–1300PubMed Basso C, Corrado D, Marcus FI (2009) A, Thiene G. Arrhythmogenic right ventricular cardiomyopathy Lancet 373(9671):1289–1300PubMed
49.
go back to reference Thiene G, Nava A, Corrado D, Rossi L, Pennelli N (1988) Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med 318(3):129–133PubMedCrossRef Thiene G, Nava A, Corrado D, Rossi L, Pennelli N (1988) Right ventricular cardiomyopathy and sudden death in young people. N Engl J Med 318(3):129–133PubMedCrossRef
50.
go back to reference Basso C, Thiene G, Corrado D, Angelini A, Nava A, Valente M (1996) Arrhythmogenic right ventricular cardiomyopathy. Dysplasia, dystrophy, or myocarditis? Circulation 94(5):983–91 Basso C, Thiene G, Corrado D, Angelini A, Nava A, Valente M (1996) Arrhythmogenic right ventricular cardiomyopathy. Dysplasia, dystrophy, or myocarditis? Circulation 94(5):983–91
51.
go back to reference Groeneweg JA, Bhonsale A, James CA, te Riele AS, Dooijes D, Tichnell C, Murray B, Wiesfeld AC, Sawant AC, Kassamali B, Atsma DE, Volders PG, de Groot NM, de Boer K, Zimmerman SL, Kamel IR, van der Heijden JF, Russell SD, Jan Cramer M, Tedford RJ, Doevendans PA, van Veen TA, Tandri H, Wilde AA, Judge DP, van Tintelen JP, Hauer RN, Calkins H (2015) Clinical presentation, long-term follow-up, and outcomes of 1001 arrhythmogenic right ventricular dysplasia/cardiomyopathy patients and family members. Circ Cardiovasc Genet 8(3):437–446PubMedCrossRef Groeneweg JA, Bhonsale A, James CA, te Riele AS, Dooijes D, Tichnell C, Murray B, Wiesfeld AC, Sawant AC, Kassamali B, Atsma DE, Volders PG, de Groot NM, de Boer K, Zimmerman SL, Kamel IR, van der Heijden JF, Russell SD, Jan Cramer M, Tedford RJ, Doevendans PA, van Veen TA, Tandri H, Wilde AA, Judge DP, van Tintelen JP, Hauer RN, Calkins H (2015) Clinical presentation, long-term follow-up, and outcomes of 1001 arrhythmogenic right ventricular dysplasia/cardiomyopathy patients and family members. Circ Cardiovasc Genet 8(3):437–446PubMedCrossRef
52.
53.
go back to reference Corrado D, Basso C, Thiene G, McKenna WJ, Davies MJ, Fontaliran F, Nava A, Silvestri F, Blomstrom-Lundqvist C, Wlodarska EK, Fontaine G, Camerini F (1997) Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study. J Am Coll Cardiol 30(6):1512–1520PubMedCrossRef Corrado D, Basso C, Thiene G, McKenna WJ, Davies MJ, Fontaliran F, Nava A, Silvestri F, Blomstrom-Lundqvist C, Wlodarska EK, Fontaine G, Camerini F (1997) Spectrum of clinicopathologic manifestations of arrhythmogenic right ventricular cardiomyopathy/dysplasia: a multicenter study. J Am Coll Cardiol 30(6):1512–1520PubMedCrossRef
54.
go back to reference Marcus FI, McKenna WJ, Sherrill D, Basso C, Bauce B, Bluemke DA, Calkins H, Corrado D, Cox MG, Daubert JP, Fontaine G, Gear K, Hauer R, Nava A, Picard MH, Protonotarios N, Saffitz JE, Sanborn DM, Steinberg JS, Tandri H, Thiene G, Towbin JA, Tsatsopoulou A, Wichter T, Zareba W (2010) Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria. Circulation 121(13):1533–1541PubMedPubMedCentralCrossRef Marcus FI, McKenna WJ, Sherrill D, Basso C, Bauce B, Bluemke DA, Calkins H, Corrado D, Cox MG, Daubert JP, Fontaine G, Gear K, Hauer R, Nava A, Picard MH, Protonotarios N, Saffitz JE, Sanborn DM, Steinberg JS, Tandri H, Thiene G, Towbin JA, Tsatsopoulou A, Wichter T, Zareba W (2010) Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the task force criteria. Circulation 121(13):1533–1541PubMedPubMedCentralCrossRef
55.
go back to reference Corrado D, van Tintelen PJ, McKenna WJ, Hauer RNW, Anastastakis A, Asimaki A, Basso C, Bauce B, Brunckhorst C, Bucciarelli-Ducci C, Duru F, Elliott P, Hamilton RM, Haugaa KH, James CA, Judge D, Link MS, Marchlinski FE, Mazzanti A, Mestroni L, Pantazis A, Pelliccia A, Marra MP, Pilichou K, Platonov PGA, Protonotarios A, Rampazzo A, Saffitz JE, Saguner AM, Schmied C, Sharma S, Tandri H, Te Riele ASJM, Thiene G, Tsatsopoulou A, Zareba W, Zorzi A, Wichter T, Marcus FI, Calkins H, International Experts (2020) Arrhythmogenic right ventricular cardiomyopathy: evaluation of the current diagnostic criteria and differential diagnosis. Eur Heart J 41(14):1414–1429 Corrado D, van Tintelen PJ, McKenna WJ, Hauer RNW, Anastastakis A, Asimaki A, Basso C, Bauce B, Brunckhorst C, Bucciarelli-Ducci C, Duru F, Elliott P, Hamilton RM, Haugaa KH, James CA, Judge D, Link MS, Marchlinski FE, Mazzanti A, Mestroni L, Pantazis A, Pelliccia A, Marra MP, Pilichou K, Platonov PGA, Protonotarios A, Rampazzo A, Saffitz JE, Saguner AM, Schmied C, Sharma S, Tandri H, Te Riele ASJM, Thiene G, Tsatsopoulou A, Zareba W, Zorzi A, Wichter T, Marcus FI, Calkins H, International Experts (2020) Arrhythmogenic right ventricular cardiomyopathy: evaluation of the current diagnostic criteria and differential diagnosis. Eur Heart J 41(14):1414–1429
56.
go back to reference Corrado D, Perazzolo Marra M, Zorzi A, Beffagna G, Cipriani A, Lazzari M, Migliore F, Pilichou K, Rampazzo A, Rigato I, Rizzo S, Thiene G, Anastasakis A, Asimaki A, Bucciarelli-Ducci C, Haugaa KH, Marchlinski FE, Mazzanti A, McKenna WJ, Pantazis A, Pelliccia A, Schmied C, Sharma S, Wichter T, Bauce B, Basso C (2020) Diagnosis of arrhythmogenic cardiomyopathy: the Padua criteria. Int J Cardiol 319:106–114PubMedCrossRef Corrado D, Perazzolo Marra M, Zorzi A, Beffagna G, Cipriani A, Lazzari M, Migliore F, Pilichou K, Rampazzo A, Rigato I, Rizzo S, Thiene G, Anastasakis A, Asimaki A, Bucciarelli-Ducci C, Haugaa KH, Marchlinski FE, Mazzanti A, McKenna WJ, Pantazis A, Pelliccia A, Schmied C, Sharma S, Wichter T, Bauce B, Basso C (2020) Diagnosis of arrhythmogenic cardiomyopathy: the Padua criteria. Int J Cardiol 319:106–114PubMedCrossRef
57.
go back to reference McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M, Baboonian C, Jeffery S, McKenna WJ (2000) Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 355(9221):2119–2124PubMedCrossRef McKoy G, Protonotarios N, Crosby A, Tsatsopoulou A, Anastasakis A, Coonar A, Norman M, Baboonian C, Jeffery S, McKenna WJ (2000) Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). Lancet 355(9221):2119–2124PubMedCrossRef
58.
go back to reference Carvajal-Huerta L (1998) Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Acad Dermatol 39(3):418–421PubMedCrossRef Carvajal-Huerta L (1998) Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy. J Am Acad Dermatol 39(3):418–421PubMedCrossRef
60.
61.
go back to reference Mazurek S, Kim GH (2017) Genetic and epigenetic regulation of arrhythmogenic cardiomyopathy. Biochim Biophys Acta Mol Basis Dis 1863(8):2064–2069PubMedCrossRef Mazurek S, Kim GH (2017) Genetic and epigenetic regulation of arrhythmogenic cardiomyopathy. Biochim Biophys Acta Mol Basis Dis 1863(8):2064–2069PubMedCrossRef
62.
go back to reference Austin KM, Trembley MA, Chandler SF, Sanders SP, Saffitz JE, Abrams DJ, Pu WT (2019) Molecular mechanisms of arrhythmogenic cardiomyopathy. Nat Rev Cardiol 16(9):519–537PubMedPubMedCentralCrossRef Austin KM, Trembley MA, Chandler SF, Sanders SP, Saffitz JE, Abrams DJ, Pu WT (2019) Molecular mechanisms of arrhythmogenic cardiomyopathy. Nat Rev Cardiol 16(9):519–537PubMedPubMedCentralCrossRef
63.
go back to reference Gandjbakhch E, Redheuil A, Pousset F, Charron P, Frank R (2018) Clinical diagnosis, imaging, and genetics of arrhythmogenic right ventricular cardiomyopathy/dysplasia: JACC state-of-the-art review. J Am Coll Cardiol 72(7):784–804PubMedCrossRef Gandjbakhch E, Redheuil A, Pousset F, Charron P, Frank R (2018) Clinical diagnosis, imaging, and genetics of arrhythmogenic right ventricular cardiomyopathy/dysplasia: JACC state-of-the-art review. J Am Coll Cardiol 72(7):784–804PubMedCrossRef
64.
go back to reference Corrado D, Basso C, Leoni L, Tokajuk B, Bauce B, Frigo G, Tarantini G, Napodano M, Turrini P, Ramondo A, Daliento L, Nava A, Buja G, Iliceto S, Thiene G (2005) Three-dimensional electroanatomic voltage mapping increases accuracy of diagnosing arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circulation 111(23):3042–3050 Corrado D, Basso C, Leoni L, Tokajuk B, Bauce B, Frigo G, Tarantini G, Napodano M, Turrini P, Ramondo A, Daliento L, Nava A, Buja G, Iliceto S, Thiene G (2005) Three-dimensional electroanatomic voltage mapping increases accuracy of diagnosing arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circulation 111(23):3042–3050
65.
go back to reference Corrado D, Basso C, Leoni L, Tokajuk B, Turrini P, Bauce B, Migliore F, Pavei A, Tarantini G, Napodano M, Ramondo A, Buja G, Iliceto S, Thiene G (2008) Three-dimensional electroanatomical voltage mapping and histologic evaluation of myocardial substrate in right ventricular outflow tract tachycardia. J Am Coll Cardiol 51(7):731–739PubMedCrossRef Corrado D, Basso C, Leoni L, Tokajuk B, Turrini P, Bauce B, Migliore F, Pavei A, Tarantini G, Napodano M, Ramondo A, Buja G, Iliceto S, Thiene G (2008) Three-dimensional electroanatomical voltage mapping and histologic evaluation of myocardial substrate in right ventricular outflow tract tachycardia. J Am Coll Cardiol 51(7):731–739PubMedCrossRef
66.
go back to reference Migliore F, Zorzi A, Silvano M, Bevilacqua M, Leoni L, Marra MP, Elmaghawry M, Brugnaro L, Dal Lin C, Bauce B, Rigato I, Tarantini G, Basso C, Buja G, Thiene G, Iliceto S, Corrado D (2013) Prognostic value of endocardial voltage mapping in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circ Arrhythm Electrophysiol 6(1):167–176PubMedCrossRef Migliore F, Zorzi A, Silvano M, Bevilacqua M, Leoni L, Marra MP, Elmaghawry M, Brugnaro L, Dal Lin C, Bauce B, Rigato I, Tarantini G, Basso C, Buja G, Thiene G, Iliceto S, Corrado D (2013) Prognostic value of endocardial voltage mapping in patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia. Circ Arrhythm Electrophysiol 6(1):167–176PubMedCrossRef
67.
go back to reference Hoogendoorn JC, Venlet J, de Riva M, Wijnmaalen AP, Piers SRD, Zeppenfeld K (2023) Unipolar voltage mapping in right ventricular cardiomyopathy: pitfalls, solutions and advantages. Europace 25(3):1035–1040PubMedPubMedCentralCrossRef Hoogendoorn JC, Venlet J, de Riva M, Wijnmaalen AP, Piers SRD, Zeppenfeld K (2023) Unipolar voltage mapping in right ventricular cardiomyopathy: pitfalls, solutions and advantages. Europace 25(3):1035–1040PubMedPubMedCentralCrossRef
68.
go back to reference Marra MP, Leoni L, Bauce B, Corbetti F, Zorzi A, Migliore F, Silvano M, Rigato I, Tona F, Tarantini G, Cacciavillani L, Basso C, Buja G, Thiene G, Iliceto S, Corrado D (2012) Imaging study of ventricular scar in arrhythmogenic right ventricular cardiomyopathy: comparison of 3D standard electroanatomical voltage mapping and contrast-enhanced cardiac magnetic resonance. Circ Arrhythm Electrophysiol 5(1):91–100PubMedCrossRef Marra MP, Leoni L, Bauce B, Corbetti F, Zorzi A, Migliore F, Silvano M, Rigato I, Tona F, Tarantini G, Cacciavillani L, Basso C, Buja G, Thiene G, Iliceto S, Corrado D (2012) Imaging study of ventricular scar in arrhythmogenic right ventricular cardiomyopathy: comparison of 3D standard electroanatomical voltage mapping and contrast-enhanced cardiac magnetic resonance. Circ Arrhythm Electrophysiol 5(1):91–100PubMedCrossRef
69.
go back to reference Perazzolo Marra M, Rizzo S, Bauce B, De Lazzari M, Pilichou K, Corrado D, Thiene G, Iliceto S, Basso C (2015) Arrhythmogenic right ventricular cardiomyopathy. Contribution of cardiac magnetic resonance imaging to the diagnosis. Herz 40(4):600–606 Perazzolo Marra M, Rizzo S, Bauce B, De Lazzari M, Pilichou K, Corrado D, Thiene G, Iliceto S, Basso C (2015) Arrhythmogenic right ventricular cardiomyopathy. Contribution of cardiac magnetic resonance imaging to the diagnosis. Herz 40(4):600–606
70.
go back to reference Towbin JA, Lorts A, Jefferies JL (2015) Left ventricular non-compaction cardiomyopathy. Lancet 386(9995):813–825PubMedCrossRef Towbin JA, Lorts A, Jefferies JL (2015) Left ventricular non-compaction cardiomyopathy. Lancet 386(9995):813–825PubMedCrossRef
71.
go back to reference Lee TM, Hsu DT, Kantor P, Towbin JA, Ware SM, Colan SD, Chung WK, Jefferies JL, Rossano JW, Castleberry CD, Addonizio LJ, Lal AK, Lamour JM, Miller EM, Thrush PT, Czachor JD, Razoky H, Hill A, Lipshultz SE (2017) Pediatric cardiomyopathies. Circ Res 121(7):855–873PubMedPubMedCentralCrossRef Lee TM, Hsu DT, Kantor P, Towbin JA, Ware SM, Colan SD, Chung WK, Jefferies JL, Rossano JW, Castleberry CD, Addonizio LJ, Lal AK, Lamour JM, Miller EM, Thrush PT, Czachor JD, Razoky H, Hill A, Lipshultz SE (2017) Pediatric cardiomyopathies. Circ Res 121(7):855–873PubMedPubMedCentralCrossRef
72.
go back to reference Towbin JA, Jefferies JL (2017) Cardiomyopathies due to left ventricular noncompaction, mitochondrial and storage diseases, and inborn errors of metabolism. Circ Res 121(7):838–854PubMedCrossRef Towbin JA, Jefferies JL (2017) Cardiomyopathies due to left ventricular noncompaction, mitochondrial and storage diseases, and inborn errors of metabolism. Circ Res 121(7):838–854PubMedCrossRef
73.
go back to reference Hoedemaekers YM, Caliskan K, Michels M, Frohn-Mulder I, van der Smagt JJ, Phefferkorn JE, Wessels MW, ten Cate FJ, Sijbrands EJ, Dooijes D, Majoor-Krakauer DF (2010) The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy. Circ Cardiovasc Genet 3(3):232–239PubMedCrossRef Hoedemaekers YM, Caliskan K, Michels M, Frohn-Mulder I, van der Smagt JJ, Phefferkorn JE, Wessels MW, ten Cate FJ, Sijbrands EJ, Dooijes D, Majoor-Krakauer DF (2010) The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy. Circ Cardiovasc Genet 3(3):232–239PubMedCrossRef
74.
go back to reference Rojanasopondist P, Nesheiwat L, Piombo S, Porter GA Jr, Ren M, Phoon CKL (2022) Genetic basis of left ventricular noncompaction. Circ Genom Precis Med 15(3):e003517PubMedCrossRef Rojanasopondist P, Nesheiwat L, Piombo S, Porter GA Jr, Ren M, Phoon CKL (2022) Genetic basis of left ventricular noncompaction. Circ Genom Precis Med 15(3):e003517PubMedCrossRef
75.
go back to reference Filho DCS, do Rêgo Aquino PL, de Souza Silva G, Fabro CB (2021) Left ventricular noncompaction: new insights into a poorly understood disease. Curr Cardiol Rev 17(2):209–216 Filho DCS, do Rêgo Aquino PL, de Souza Silva G, Fabro CB (2021) Left ventricular noncompaction: new insights into a poorly understood disease. Curr Cardiol Rev 17(2):209–216
76.
go back to reference Wilde AAM, Semsarian C, Márquez MF, Shamloo AS, Ackerman MJ, Ashley EA, Sternick EB, Barajas-Martinez H, Behr ER, Bezzina CR, Breckpot J, Charron P, Chockalingam P, Crotti L, Gollob MH, Lubitz S, Makita N, Ohno S, Ortiz-Genga M, Sacilotto L, Schulze-Bahr E, Shimizu W, Sotoodehnia N, Tadros R, Ware JS, Winlaw DS, Kaufman ES; Document Reviewers; Aiba T, Bollmann A, Choi JI, Dalal A, Darrieux F, Giudicessi J, Guerchicoff M, Hong K, Krahn AD, MacIntyre C, Mackall JA, Mont L, Napolitano C, Ochoa JP, Peichl P, Pereira AC, Schwartz PJ, Skinner J, Stellbrink C, Tfelt-Hansen J, Deneke T; Developed in partnership with and endorsed by the European Heart Rhythm Association (EHRA), a branch of the European Society of Cardiology (ESC), the Heart Rhythm Society (HRS), the Asia Pacific Heart Rhythm Society (APHRS), and the Latin American Heart Rhythm Society (LAHRS) (2022) European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases. Europace 24(8):1307–1367 Wilde AAM, Semsarian C, Márquez MF, Shamloo AS, Ackerman MJ, Ashley EA, Sternick EB, Barajas-Martinez H, Behr ER, Bezzina CR, Breckpot J, Charron P, Chockalingam P, Crotti L, Gollob MH, Lubitz S, Makita N, Ohno S, Ortiz-Genga M, Sacilotto L, Schulze-Bahr E, Shimizu W, Sotoodehnia N, Tadros R, Ware JS, Winlaw DS, Kaufman ES; Document Reviewers; Aiba T, Bollmann A, Choi JI, Dalal A, Darrieux F, Giudicessi J, Guerchicoff M, Hong K, Krahn AD, MacIntyre C, Mackall JA, Mont L, Napolitano C, Ochoa JP, Peichl P, Pereira AC, Schwartz PJ, Skinner J, Stellbrink C, Tfelt-Hansen J, Deneke T; Developed in partnership with and endorsed by the European Heart Rhythm Association (EHRA), a branch of the European Society of Cardiology (ESC), the Heart Rhythm Society (HRS), the Asia Pacific Heart Rhythm Society (APHRS), and the Latin American Heart Rhythm Society (LAHRS) (2022) European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases. Europace 24(8):1307–1367
77.
go back to reference Jenni R, Oechslin E, Schneider J, Attenhofer Jost C, Kaufmann PA (2001) Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart 86(6):666–671PubMedPubMedCentralCrossRef Jenni R, Oechslin E, Schneider J, Attenhofer Jost C, Kaufmann PA (2001) Echocardiographic and pathoanatomical characteristics of isolated left ventricular non-compaction: a step towards classification as a distinct cardiomyopathy. Heart 86(6):666–671PubMedPubMedCentralCrossRef
78.
go back to reference Chin TK, Perloff JK, Williams RG, Jue K, Mohrmann R (1990) Isolated noncompaction of left ventricular myocardium. A study of eight cases Circulation 82(2):507–513PubMed Chin TK, Perloff JK, Williams RG, Jue K, Mohrmann R (1990) Isolated noncompaction of left ventricular myocardium. A study of eight cases Circulation 82(2):507–513PubMed
79.
go back to reference Stöllberger C, Finsterer J, Blazek G (2002) Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders. Am J Cardiol 90(8):899–902PubMedCrossRef Stöllberger C, Finsterer J, Blazek G (2002) Left ventricular hypertrabeculation/noncompaction and association with additional cardiac abnormalities and neuromuscular disorders. Am J Cardiol 90(8):899–902PubMedCrossRef
80.
go back to reference Paterick TE, Umland MM, Jan MF, Ammar KA, Kramer C, Khandheria BK, Seward JB, Tajik AJ (2012) Left ventricular noncompaction: a 25-year odyssey. J Am Soc Echocardiogr 25(4):363–375PubMedCrossRef Paterick TE, Umland MM, Jan MF, Ammar KA, Kramer C, Khandheria BK, Seward JB, Tajik AJ (2012) Left ventricular noncompaction: a 25-year odyssey. J Am Soc Echocardiogr 25(4):363–375PubMedCrossRef
81.
go back to reference Petersen SE, Selvanayagam JB, Wiesmann F, Robson MD, Francis JM, Anderson RH, Watkins H, Neubauer S (2005) Left ventricular non-compaction: insights from cardiovascular magnetic resonance imaging. J Am Coll Cardiol 46(1):101–105PubMedCrossRef Petersen SE, Selvanayagam JB, Wiesmann F, Robson MD, Francis JM, Anderson RH, Watkins H, Neubauer S (2005) Left ventricular non-compaction: insights from cardiovascular magnetic resonance imaging. J Am Coll Cardiol 46(1):101–105PubMedCrossRef
82.
go back to reference Kawel N, Nacif M, Arai AE, Gomes AS, Hundley WG, Johnson WC, Prince MR, Stacey RB, Lima JA, Bluemke DA (2012) Trabeculated (noncompacted) and compact myocardium in adults: the multi-ethnic study of atherosclerosis. Circ Cardiovasc Imaging 5(3):357–66. https://doi.org/10.1161/CIRCIMAGING.111.971713. Epub 2012 Apr 12. PMID: 22499849; PMCID: PMC3399115 Kawel N, Nacif M, Arai AE, Gomes AS, Hundley WG, Johnson WC, Prince MR, Stacey RB, Lima JA, Bluemke DA (2012) Trabeculated (noncompacted) and compact myocardium in adults: the multi-ethnic study of atherosclerosis. Circ Cardiovasc Imaging 5(3):357–66. https://​doi.​org/​10.​1161/​CIRCIMAGING.​111.​971713. Epub 2012 Apr 12. PMID: 22499849; PMCID: PMC3399115
83.
go back to reference Jacquier A, Thuny F, Jop B, Giorgi R, Cohen F, Gaubert JY, Vidal V, Bartoli JM, Habib G, Moulin G (2010) Measurement of trabeculated left ventricular mass using cardiac magnetic resonance imaging in the diagnosis of left ventricular non-compaction. Eur Heart J 31(9):1098–1104PubMedCrossRef Jacquier A, Thuny F, Jop B, Giorgi R, Cohen F, Gaubert JY, Vidal V, Bartoli JM, Habib G, Moulin G (2010) Measurement of trabeculated left ventricular mass using cardiac magnetic resonance imaging in the diagnosis of left ventricular non-compaction. Eur Heart J 31(9):1098–1104PubMedCrossRef
84.
go back to reference Grigoratos C, Barison A, Ivanov A, Andreini D, Amzulescu MS, Mazurkiewicz L, De Luca A, Grzybowski J, Masci PG, Marczak M, Heitner JF, Schwitter J, Gerber BL, Emdin M, Aquaro GD (2019) Meta-analysis of the prognostic role of late gadolinium enhancement and global systolic impairment in left ventricular noncompaction. JACC Cardiovasc Imaging 12(11 Pt 1):2141–2151. https://doi.org/10.1016/j.jcmg.2018.12.029. Epub 2019 Mar 13 PMID: 30878415 Grigoratos C, Barison A, Ivanov A, Andreini D, Amzulescu MS, Mazurkiewicz L, De Luca A, Grzybowski J, Masci PG, Marczak M, Heitner JF, Schwitter J, Gerber BL, Emdin M, Aquaro GD (2019) Meta-analysis of the prognostic role of late gadolinium enhancement and global systolic impairment in left ventricular noncompaction. JACC Cardiovasc Imaging 12(11 Pt 1):2141–2151. https://​doi.​org/​10.​1016/​j.​jcmg.​2018.​12.​029. Epub 2019 Mar 13 PMID: 30878415
85.
go back to reference Sidhu MS, Uthamalingam S, Ahmed W, Engel LC, Vorasettakarnkij Y, Lee AM, Hoffmann U, Brady T, Abbara S, Ghoshhajra BB (2014) Defining left ventricular noncompaction using cardiac computed tomography. J Thorac Imaging 29(1):60–66PubMedCrossRef Sidhu MS, Uthamalingam S, Ahmed W, Engel LC, Vorasettakarnkij Y, Lee AM, Hoffmann U, Brady T, Abbara S, Ghoshhajra BB (2014) Defining left ventricular noncompaction using cardiac computed tomography. J Thorac Imaging 29(1):60–66PubMedCrossRef
86.
go back to reference Chebrolu LH, Mehta AM, Nanda NC (2017) Noncompaction cardiomyopathy: the role of advanced multimodality imaging techniques in diagnosis and assessment. Echocardiography 34(2):279–289PubMedCrossRef Chebrolu LH, Mehta AM, Nanda NC (2017) Noncompaction cardiomyopathy: the role of advanced multimodality imaging techniques in diagnosis and assessment. Echocardiography 34(2):279–289PubMedCrossRef
88.
go back to reference Olejniczak M, Schwartz M, Webber E, Shaffer A, Perry TE (2020) Viral myocarditis-incidence, diagnosis and management. J Cardiothorac Vasc Anesth 34(6):1591–1601PubMedCrossRef Olejniczak M, Schwartz M, Webber E, Shaffer A, Perry TE (2020) Viral myocarditis-incidence, diagnosis and management. J Cardiothorac Vasc Anesth 34(6):1591–1601PubMedCrossRef
90.
go back to reference Caforio AL, Pankuweit S, Arbustini E, Basso C, Gimeno-Blanes J, Felix SB, Fu M, Heliö T, Heymans S, Jahns R, Klingel K, Linhart A, Maisch B, McKenna W, Mogensen J, Pinto YM, Ristic A, Schultheiss HP, Seggewiss H, Tavazzi L, Thiene G, Yilmaz A, Charron P, Elliott PM, European Society of Cardiology Working Group on Myocardial and Pericardial Diseases (2013) Current state of knowledge on aetiology, diagnosis, management, and therapy of myocarditis: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 34(33):2636–2648, 2648a-2648d Caforio AL, Pankuweit S, Arbustini E, Basso C, Gimeno-Blanes J, Felix SB, Fu M, Heliö T, Heymans S, Jahns R, Klingel K, Linhart A, Maisch B, McKenna W, Mogensen J, Pinto YM, Ristic A, Schultheiss HP, Seggewiss H, Tavazzi L, Thiene G, Yilmaz A, Charron P, Elliott PM, European Society of Cardiology Working Group on Myocardial and Pericardial Diseases (2013) Current state of knowledge on aetiology, diagnosis, management, and therapy of myocarditis: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J 34(33):2636–2648, 2648a-2648d
91.
go back to reference Ammirati E, Frigerio M, Adler ED, Basso C, Birnie DH, Brambatti M, Friedrich MG, Klingel K, Lehtonen J, Moslehi JJ, Pedrotti P, Rimoldi OE, Schultheiss HP, Tschöpe C, Cooper LT Jr, Camici PG (2020) Management of acute myocarditis and chronic inflammatory cardiomyopathy: an expert consensus document. Circ Heart Fail 13(11):e007405PubMedPubMedCentralCrossRef Ammirati E, Frigerio M, Adler ED, Basso C, Birnie DH, Brambatti M, Friedrich MG, Klingel K, Lehtonen J, Moslehi JJ, Pedrotti P, Rimoldi OE, Schultheiss HP, Tschöpe C, Cooper LT Jr, Camici PG (2020) Management of acute myocarditis and chronic inflammatory cardiomyopathy: an expert consensus document. Circ Heart Fail 13(11):e007405PubMedPubMedCentralCrossRef
94.
go back to reference Ferreira VM, Schulz-Menger J, Holmvang G, Kramer CM, Carbone I, Sechtem U, Kindermann I, Gutberlet M, Cooper LT, Liu P, Friedrich MG (2018) Cardiovascular magnetic resonance in nonischemic myocardial inflammation: expert recommendations. J Am Coll Cardiol 72(24):3158–3176PubMedCrossRef Ferreira VM, Schulz-Menger J, Holmvang G, Kramer CM, Carbone I, Sechtem U, Kindermann I, Gutberlet M, Cooper LT, Liu P, Friedrich MG (2018) Cardiovascular magnetic resonance in nonischemic myocardial inflammation: expert recommendations. J Am Coll Cardiol 72(24):3158–3176PubMedCrossRef
96.
go back to reference Lota AS, Hazebroek MR, Theotokis P, Wassall R, Salmi S, Halliday BP, Tayal U, Verdonschot J, Meena D, Owen R, de Marvao A, Iacob A, Yazdani M, Hammersley DJ, Jones RE, Wage R, Buchan R, Vivian F, Hafouda Y, Noseda M, Gregson J, Mittal T, Wong J, Robertus JL, Baksi AJ, Vassiliou V, Tzoulaki I, Pantazis A, Cleland JGF, Barton PJR, Cook SA, Pennell DJ, Garcia-Pavia P, Cooper LT Jr, Heymans S, Ware JS, Prasad SK (2022) Genetic architecture of acute myocarditis and the overlap with inherited cardiomyopathy. Circulation 146(15):1123–1134PubMedPubMedCentralCrossRef Lota AS, Hazebroek MR, Theotokis P, Wassall R, Salmi S, Halliday BP, Tayal U, Verdonschot J, Meena D, Owen R, de Marvao A, Iacob A, Yazdani M, Hammersley DJ, Jones RE, Wage R, Buchan R, Vivian F, Hafouda Y, Noseda M, Gregson J, Mittal T, Wong J, Robertus JL, Baksi AJ, Vassiliou V, Tzoulaki I, Pantazis A, Cleland JGF, Barton PJR, Cook SA, Pennell DJ, Garcia-Pavia P, Cooper LT Jr, Heymans S, Ware JS, Prasad SK (2022) Genetic architecture of acute myocarditis and the overlap with inherited cardiomyopathy. Circulation 146(15):1123–1134PubMedPubMedCentralCrossRef
97.
go back to reference Ammirati E, Raimondi F, Piriou N, Sardo Infirri L, Mohiddin SA, Mazzanti A, Shenoy C, Cavallari UA, Imazio M, Aquaro GD, Olivotto I, Pedrotti P, Sekhri N, Van de Heyning CM, Broeckx G, Peretto G, Guttmann O, Dellegrottaglie S, Scatteia A, Gentile P, Merlo M, Goldberg RI, Reyentovich A, Sciamanna C, Klaassen S, Poller W, Trankle CR, Abbate A, Keren A, Horowitz-Cederboim S, Cadrin-Tourigny J, Tadros R, Annoni GA, Bonoldi E, Toquet C, Marteau L, Probst V, Trochu JN, Kissopoulou A, Grosu A, Kukavica D, Trancuccio A, Gil C, Tini G, Pedrazzini M, Torchio M, Sinagra G, Gimeno JR, Bernasconi D, Valsecchi MG, Klingel K, Adler ED, Camici PG, Cooper LT Jr (2022) Acute myocarditis associated with desmosomal gene variants. JACC Heart Fail 10(10):714–727PubMedCrossRef Ammirati E, Raimondi F, Piriou N, Sardo Infirri L, Mohiddin SA, Mazzanti A, Shenoy C, Cavallari UA, Imazio M, Aquaro GD, Olivotto I, Pedrotti P, Sekhri N, Van de Heyning CM, Broeckx G, Peretto G, Guttmann O, Dellegrottaglie S, Scatteia A, Gentile P, Merlo M, Goldberg RI, Reyentovich A, Sciamanna C, Klaassen S, Poller W, Trankle CR, Abbate A, Keren A, Horowitz-Cederboim S, Cadrin-Tourigny J, Tadros R, Annoni GA, Bonoldi E, Toquet C, Marteau L, Probst V, Trochu JN, Kissopoulou A, Grosu A, Kukavica D, Trancuccio A, Gil C, Tini G, Pedrazzini M, Torchio M, Sinagra G, Gimeno JR, Bernasconi D, Valsecchi MG, Klingel K, Adler ED, Camici PG, Cooper LT Jr (2022) Acute myocarditis associated with desmosomal gene variants. JACC Heart Fail 10(10):714–727PubMedCrossRef
98.
go back to reference Dias A, Núñez Gil IJ, Santoro F, Madias JE, Pelliccia F, Brunetti ND, Salmoirago-Blotcher E, Sharkey SW, Eitel I, Akashi YJ, El-Battrawy I, Franco E, Akin I, Jaguszewski M, Dawson D, Figueredo VM, Napp CL, Christensen TE, Hebert K, Ben-Dor I, Ozaki Y, García-Garcia HM, Kajita AK, Akasaka T, Kurisu S, Lerman A, Waksman R. Takotsubo syndrome: state-of-the-art review by an expert panel–Part 2. Cardiovascular Revascularization Medicine 17 Nov 2018 Epub Dias A, Núñez Gil IJ, Santoro F, Madias JE, Pelliccia F, Brunetti ND, Salmoirago-Blotcher E, Sharkey SW, Eitel I, Akashi YJ, El-Battrawy I, Franco E, Akin I, Jaguszewski M, Dawson D, Figueredo VM, Napp CL, Christensen TE, Hebert K, Ben-Dor I, Ozaki Y, García-Garcia HM, Kajita AK, Akasaka T, Kurisu S, Lerman A, Waksman R. Takotsubo syndrome: state-of-the-art review by an expert panel–Part 2. Cardiovascular Revascularization Medicine 17 Nov 2018 Epub
99.
go back to reference Ieva R, Santoro F, Ferraretti A, Spennati G, De Gennaro L, Di Biase M, Brunetti ND (2013) Hyper-acute precipitating mechanism of Tako-Tsubo cardiomyopathy: in the beginning was basal hyperkinesis? Int J Cardiol 167(3):e55–e57PubMedCrossRef Ieva R, Santoro F, Ferraretti A, Spennati G, De Gennaro L, Di Biase M, Brunetti ND (2013) Hyper-acute precipitating mechanism of Tako-Tsubo cardiomyopathy: in the beginning was basal hyperkinesis? Int J Cardiol 167(3):e55–e57PubMedCrossRef
100.
go back to reference Rawish E, Stiermaier T, Santoro F, Brunetti ND, Eitel I (2021) Current knowledge and future challenges in takotsubo syndrome: part 1-pathophysiology and diagnosis. J Clin Med 10(3):479PubMedPubMedCentralCrossRef Rawish E, Stiermaier T, Santoro F, Brunetti ND, Eitel I (2021) Current knowledge and future challenges in takotsubo syndrome: part 1-pathophysiology and diagnosis. J Clin Med 10(3):479PubMedPubMedCentralCrossRef
101.
go back to reference Santoro F, Stiermaier T, Tarantino N, Guastafierro F, Graf T, Moller C, Di Martino LFM, Thiele H, Di Biase M, Eitel I, Brunetti ND (2018) Impact of persistent ST elevation on outcome in patients with takotsubo syndrome. Results from the GErman Italian STress Cardiomyopathy (GEIST) registry. Int J Cardiol 255:140–144 Santoro F, Stiermaier T, Tarantino N, Guastafierro F, Graf T, Moller C, Di Martino LFM, Thiele H, Di Biase M, Eitel I, Brunetti ND (2018) Impact of persistent ST elevation on outcome in patients with takotsubo syndrome. Results from the GErman Italian STress Cardiomyopathy (GEIST) registry. Int J Cardiol 255:140–144
102.
go back to reference Santoro F, Núñez Gil IJ, Stiermaier T, El-Battrawy I, Guerra F, Novo G, Guastafierro F, Tarantino N, Novo S, Mariano E, Romeo F, Romeo F, Capucci A, Bahlmann E, Zingaro M, Cannone M, Caldarola P, Marchetti MF, Montisci R, Meloni L, Thiele H, Di Biase M, Almendro-Delia M, Sionis A, Akin I, Eitel I, Brunetti ND (2019) Assessment of the German and Italian stress cardiomyopathy score for risk stratification for in-hospital complications in patients with takotsubo syndrome. JAMA Cardiol 4(9):892–899PubMedPubMedCentralCrossRef Santoro F, Núñez Gil IJ, Stiermaier T, El-Battrawy I, Guerra F, Novo G, Guastafierro F, Tarantino N, Novo S, Mariano E, Romeo F, Romeo F, Capucci A, Bahlmann E, Zingaro M, Cannone M, Caldarola P, Marchetti MF, Montisci R, Meloni L, Thiele H, Di Biase M, Almendro-Delia M, Sionis A, Akin I, Eitel I, Brunetti ND (2019) Assessment of the German and Italian stress cardiomyopathy score for risk stratification for in-hospital complications in patients with takotsubo syndrome. JAMA Cardiol 4(9):892–899PubMedPubMedCentralCrossRef
103.
go back to reference Santoro F, Carapelle E, Cieza Ortiz SI, Musaico F, Ferraretti A, d’Orsi G, Specchio LM, Di Biase M, Brunetti ND (2013) Potential links between neurological disease and Tako-Tsubo cardiomyopathy: a literature review. Int J Cardiol 168(2):688–691PubMedCrossRef Santoro F, Carapelle E, Cieza Ortiz SI, Musaico F, Ferraretti A, d’Orsi G, Specchio LM, Di Biase M, Brunetti ND (2013) Potential links between neurological disease and Tako-Tsubo cardiomyopathy: a literature review. Int J Cardiol 168(2):688–691PubMedCrossRef
104.
go back to reference Santoro F, Ferraretti A, Ieva R, Musaico F, Fanelli M, Tarantino N, Scarcia M, Caldarola P, Di Biase M, Brunetti ND (2016) Renal impairment and outcome in patients with takotsubo cardiomyopathy. Am J Emerg Med 34(3):548–552PubMedCrossRef Santoro F, Ferraretti A, Ieva R, Musaico F, Fanelli M, Tarantino N, Scarcia M, Caldarola P, Di Biase M, Brunetti ND (2016) Renal impairment and outcome in patients with takotsubo cardiomyopathy. Am J Emerg Med 34(3):548–552PubMedCrossRef
105.
go back to reference Tarantino N, Santoro F, Di Biase L et al (2020) Chromogranin-A serum levels in patients with takotsubo syndrome and ST elevation acute myocardial infarction. Int J Cardiol S0167–5273(20):33525–33527 Tarantino N, Santoro F, Di Biase L et al (2020) Chromogranin-A serum levels in patients with takotsubo syndrome and ST elevation acute myocardial infarction. Int J Cardiol S0167–5273(20):33525–33527
106.
go back to reference Vriz O, Minisini R, Citro R, Guerra V, Zito C, De Luca G, Pavan D, Pirisi M, Limongelli G, Bossone E (2011) Analysis of beta1 and beta2-adrenergic receptors polymorphism in patients with apical ballooning cardiomyopathy. Acta Cardiol 66(6):787–790PubMedCrossRef Vriz O, Minisini R, Citro R, Guerra V, Zito C, De Luca G, Pavan D, Pirisi M, Limongelli G, Bossone E (2011) Analysis of beta1 and beta2-adrenergic receptors polymorphism in patients with apical ballooning cardiomyopathy. Acta Cardiol 66(6):787–790PubMedCrossRef
107.
go back to reference Mori H, Ishikawa S, Kojima S, Hayashi J, Watanabe Y, Hoffman JI, Okino H (1993) Increased responsiveness of left ventricular apical myocardium to adrenergic stimuli. Cardiovasc Res 27(2):192–198PubMedCrossRef Mori H, Ishikawa S, Kojima S, Hayashi J, Watanabe Y, Hoffman JI, Okino H (1993) Increased responsiveness of left ventricular apical myocardium to adrenergic stimuli. Cardiovasc Res 27(2):192–198PubMedCrossRef
108.
go back to reference Santoro F, Costantino MD, Guastafierro F, Triggiani G, Ferraretti A, Tarantino N, Saguner A, Di Biase M, Brunetti ND (2018) Inflammatory patterns in takotsubo cardiomyopathy and acute coronary syndrome: a propensity score matched analysis. Atherosclerosis 274:157–161PubMedCrossRef Santoro F, Costantino MD, Guastafierro F, Triggiani G, Ferraretti A, Tarantino N, Saguner A, Di Biase M, Brunetti ND (2018) Inflammatory patterns in takotsubo cardiomyopathy and acute coronary syndrome: a propensity score matched analysis. Atherosclerosis 274:157–161PubMedCrossRef
109.
go back to reference Scally C, Abbas H, Ahearn T, Srinivasan J, Mezincescu A, Rudd A, Spath N, Yucel-Finn A, Yuecel R, Oldroyd K, Dospinescu C, Horgan G, Broadhurst P, Henning A, Newby DE, Semple S, Wilson HM, Dawson DK (2019) Myocardial and systemic inflammation in acute stress-induced (takotsubo) cardiomyopathy. Circulation 139(13):1581–1592PubMedPubMedCentralCrossRef Scally C, Abbas H, Ahearn T, Srinivasan J, Mezincescu A, Rudd A, Spath N, Yucel-Finn A, Yuecel R, Oldroyd K, Dospinescu C, Horgan G, Broadhurst P, Henning A, Newby DE, Semple S, Wilson HM, Dawson DK (2019) Myocardial and systemic inflammation in acute stress-induced (takotsubo) cardiomyopathy. Circulation 139(13):1581–1592PubMedPubMedCentralCrossRef
110.
go back to reference Zilberman L, Zalik A, Fugenfirov I, Shimoni S, George J, Goland S (2021) Residual alterations of cardiac and endothelial function in patients who recovered from takotsubo cardiomyopathy. Clin Cardiol 44(6):797–804PubMedPubMedCentralCrossRef Zilberman L, Zalik A, Fugenfirov I, Shimoni S, George J, Goland S (2021) Residual alterations of cardiac and endothelial function in patients who recovered from takotsubo cardiomyopathy. Clin Cardiol 44(6):797–804PubMedPubMedCentralCrossRef
111.
go back to reference Rivero F, Cuesta J, García-Guimaraes M, Bastante T, Alvarado T, Antuña P, Alfonso F (2017) Time-related microcirculatory dysfunction in patients with takotsubo cardiomyopathy. JAMA Cardiol 2(6):699–700PubMedPubMedCentralCrossRef Rivero F, Cuesta J, García-Guimaraes M, Bastante T, Alvarado T, Antuña P, Alfonso F (2017) Time-related microcirculatory dysfunction in patients with takotsubo cardiomyopathy. JAMA Cardiol 2(6):699–700PubMedPubMedCentralCrossRef
112.
go back to reference Ghadri JR, Wittstein IS, Prasad A, Sharkey S, Dote K, Akashi YJ, Cammann VL, Crea F, Galiuto L, Desmet W, Yoshida T, Manfredini R, Eitel I, Kosuge M, Nef HM, Deshmukh A, Lerman A, Bossone E, Citro R, Ueyama T, Corrado D, Kurisu S, Ruschitzka F, Winchester D, Lyon AR, Omerovic E, Bax JJ, Meimoun P, Tarantini G, Rihal C, Y-Hassan S, Migliore F, Horowitz JD, Shimokawa H, Lüscher TF, Templin C (2018) International expert consensus document on takotsubo syndrome (Part I): clinical characteristics, diagnostic criteria, and pathophysiology. Eur Heart J 39(22):2032–2046 Ghadri JR, Wittstein IS, Prasad A, Sharkey S, Dote K, Akashi YJ, Cammann VL, Crea F, Galiuto L, Desmet W, Yoshida T, Manfredini R, Eitel I, Kosuge M, Nef HM, Deshmukh A, Lerman A, Bossone E, Citro R, Ueyama T, Corrado D, Kurisu S, Ruschitzka F, Winchester D, Lyon AR, Omerovic E, Bax JJ, Meimoun P, Tarantini G, Rihal C, Y-Hassan S, Migliore F, Horowitz JD, Shimokawa H, Lüscher TF, Templin C (2018) International expert consensus document on takotsubo syndrome (Part I): clinical characteristics, diagnostic criteria, and pathophysiology. Eur Heart J 39(22):2032–2046
113.
go back to reference Eitel I, von Knobelsdorff-Brenkenhoff F, Bernhardt P, Carbone I, Muellerleile K, Aldrovandi A, Francone M, Desch S, Gutberlet M, Strohm O, Schuler G, Schulz-Menger J, Thiele H, Friedrich MG (2011) Clinical characteristics and cardiovascular magnetic resonance findings in stress (takotsubo) cardiomyopathy. JAMA 306(3):277–286PubMedCrossRef Eitel I, von Knobelsdorff-Brenkenhoff F, Bernhardt P, Carbone I, Muellerleile K, Aldrovandi A, Francone M, Desch S, Gutberlet M, Strohm O, Schuler G, Schulz-Menger J, Thiele H, Friedrich MG (2011) Clinical characteristics and cardiovascular magnetic resonance findings in stress (takotsubo) cardiomyopathy. JAMA 306(3):277–286PubMedCrossRef
Metadata
Title
Multidisciplinary approach in cardiomyopathies: From genetics to advanced imaging
Authors
Francesco Santoro
Enrica Vitale
Ilaria Ragnatela
Rosa Cetera
Alessandra Leopzzi
Adriana Mallardi
Annalisa Matera
Marco Mele
Michele Correale
Natale Daniele Brunetti
Publication date
02-12-2023
Publisher
Springer US
Published in
Heart Failure Reviews / Issue 2/2024
Print ISSN: 1382-4147
Electronic ISSN: 1573-7322
DOI
https://doi.org/10.1007/s10741-023-10373-8

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