Skip to main content
Top
Published in:

07-08-2024 | Cardiomyopathy

Familial Screening for Cardiomyopathies and Arrhythmias

Authors: Jessica Stansauk, Leslie McCallen, Dustin Nash, Kathryn Chatfield

Published in: Current Pediatrics Reports | Issue 3/2024

Login to get access

Abstract

Purpose of Review

Cardiomyopathies and Heritable arrhythmias are common diagnoses in Cardiology. We discuss the different forms of cardiomyopathy and the most common heritable arrhythmias as well as the methods and timing of screening for potentially at-risk family members.

Recent Findings

Genetic discovery continues to drive the field of cardiology in cardiomyopathies and arrhythmias. Genotype can impact medical management recommendations but is not always straightforward in its interpretation.

Summary

Medical knowledge regarding cardiomyopathies continues to evolve. Molecular testing is an increasingly important part of medical care for individuals and their families. Regardless of whether a genetic etiology can be identified in the proband, screening of at-risk family members remains an important part of comprehensive medical care given the current limitations of genetic testing in cardiomyopathies.
Literature
1.
go back to reference Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, et al. Contemporary Definitions and Classification of the Cardiomyopathies. Circulation. 2006;113(14):1807–16.CrossRefPubMed Maron BJ, Towbin JA, Thiene G, Antzelevitch C, Corrado D, Arnett D, et al. Contemporary Definitions and Classification of the Cardiomyopathies. Circulation. 2006;113(14):1807–16.CrossRefPubMed
2.
go back to reference McKenna WJ, Maron BJ, Thiene G. Classification, Epidemiology, and Global Burden of Cardiomyopathies. Circ Res. 2017;121(7):722–30.CrossRefPubMed McKenna WJ, Maron BJ, Thiene G. Classification, Epidemiology, and Global Burden of Cardiomyopathies. Circ Res. 2017;121(7):722–30.CrossRefPubMed
3.
go back to reference Geisterfer-Lowrance AA, Kass S, Tanigawa G, Vosberg HP, McKenna W, Seidman CE, Seidman JG. A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell. 1990;62:999–1006.CrossRefPubMed Geisterfer-Lowrance AA, Kass S, Tanigawa G, Vosberg HP, McKenna W, Seidman CE, Seidman JG. A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation. Cell. 1990;62:999–1006.CrossRefPubMed
4.
go back to reference Fatkin D, Calkins H, Elliott P, James CA, Peters S, Kovacic JC. Contemporary and Future Approaches to Precision Medicine in Inherited Cardiomyopathies. J Am Coll Cardiol. 2021;77(20):2551–72. Important paper on molecular testing in cardiomyopathies Fatkin D, Calkins H, Elliott P, James CA, Peters S, Kovacic JC. Contemporary and Future Approaches to Precision Medicine in Inherited Cardiomyopathies. J Am Coll Cardiol. 2021;77(20):2551–72. Important paper on molecular testing in cardiomyopathies
5.
go back to reference Lipshultz SE, Law YM, Asante-Korang A, Austin ED, Dipchand AI, Everitt MD, et al. Cardiomyopathy in Children: Classification and Diagnosis: A Scientific Statement From the American Heart Association. Circulation. 2019;140(1):e9–68.CrossRefPubMed Lipshultz SE, Law YM, Asante-Korang A, Austin ED, Dipchand AI, Everitt MD, et al. Cardiomyopathy in Children: Classification and Diagnosis: A Scientific Statement From the American Heart Association. Circulation. 2019;140(1):e9–68.CrossRefPubMed
6.
go back to reference Llerena-Velastegui J, Velastegui-Zurita S, Santander-Fuentes C, Dominguez-Gavilanes D, Roa-Guerra A, Clara A, et al. Advances and Challenges in the Diagnosis and Management of Left Ventricular Noncompaction in Adults: A Literature Review. Curr Probl Cardiol. 2024;49(6):102571–81. A recent review of LVNC Llerena-Velastegui J, Velastegui-Zurita S, Santander-Fuentes C, Dominguez-Gavilanes D, Roa-Guerra A, Clara A, et al. Advances and Challenges in the Diagnosis and Management of Left Ventricular Noncompaction in Adults: A Literature Review. Curr Probl Cardiol. 2024;49(6):102571–81.  A recent review of LVNC
8.
go back to reference Kaski JP, Norrish G, Gimeno Blanes JR, Charron P, Elliott P, Tavazzi L, Tendera M, Laroche C, Maggioni AP, Baban A, Khraiche D, Ziolkowska L, Limongelli G, Ojala T, Gorenflo M, Anastasakis A, Mostafa S, Caforio ALP, Paediatric Cardiomyopathy Registry Invesgators EORP. Cardiomyopathies in children and adolescents: aeology, management, and outcomes in the European Society of Cardiology EURObservaonal Research Programme Cardiomyopathy and Myocardis Registry. European heart journal. 2024;45(16):1443–54. https://doi.org/10.1093/eurheartj/ehae109.CrossRefPubMed Kaski JP, Norrish G, Gimeno Blanes JR, Charron P, Elliott P, Tavazzi L, Tendera M, Laroche C, Maggioni AP, Baban A, Khraiche D, Ziolkowska L, Limongelli G, Ojala T, Gorenflo M, Anastasakis A, Mostafa S, Caforio ALP, Paediatric Cardiomyopathy Registry Invesgators EORP. Cardiomyopathies in children and adolescents: aeology, management, and outcomes in the European Society of Cardiology EURObservaonal Research Programme Cardiomyopathy and Myocardis Registry. European heart journal. 2024;45(16):1443–54. https://​doi.​org/​10.​1093/​eurheartj/​ehae109.CrossRefPubMed
9.
go back to reference Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, et al. Genetic Evaluation of Cardiomyopathy—A Heart Failure Society of America Practice Guideline. J Cardiac Fail. 2018;24(5):281–302.CrossRef Hershberger RE, Givertz MM, Ho CY, Judge DP, Kantor PF, McBride KL, et al. Genetic Evaluation of Cardiomyopathy—A Heart Failure Society of America Practice Guideline. J Cardiac Fail. 2018;24(5):281–302.CrossRef
11.
go back to reference Maron BJ, Desai MY, Nishimura RA, Spirito P, Rakowski H, Towbin JA, et al. Diagnosis and Evaluation of Hypertrophic Cardiomyopathy. J Am Coll Cardiol. 2022;79(4):372–89.CrossRefPubMed Maron BJ, Desai MY, Nishimura RA, Spirito P, Rakowski H, Towbin JA, et al. Diagnosis and Evaluation of Hypertrophic Cardiomyopathy. J Am Coll Cardiol. 2022;79(4):372–89.CrossRefPubMed
12.
13.
go back to reference Bhonsale A, te Riele ASJM, Sawant AC, Groeneweg JA, James CA, Murray B, et al. Cardiac phenotype and long-term prognosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia patients with late presentation. Heart Rhythm. 2017;14(6):883–91.CrossRefPubMed Bhonsale A, te Riele ASJM, Sawant AC, Groeneweg JA, James CA, Murray B, et al. Cardiac phenotype and long-term prognosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia patients with late presentation. Heart Rhythm. 2017;14(6):883–91.CrossRefPubMed
14.
go back to reference Protonotarios N, Tsatsopoulou A. Naxos disease and Carvajal syndrome. Cardiovascular Pathology. 2004;13(4):185–94.CrossRefPubMed Protonotarios N, Tsatsopoulou A. Naxos disease and Carvajal syndrome. Cardiovascular Pathology. 2004;13(4):185–94.CrossRefPubMed
15.
go back to reference Krahn AD, Wilde AAM, Calkins H, La Gerche A, Cadrin-Tourigny J, Roberts JD, et al. Arrhythmogenic right ventricular cardiomyopathy. JACC Clin Electrophysiol [Internet]. 2022;8(4):533–53. Important paper on ARVC Krahn AD, Wilde AAM, Calkins H, La Gerche A, Cadrin-Tourigny J, Roberts JD, et al. Arrhythmogenic right ventricular cardiomyopathy. JACC Clin Electrophysiol [Internet]. 2022;8(4):533–53.  Important paper on ARVC
16.
go back to reference Sweeney J, Tichnell C, Christian S, Pendelton C, Murray B, Roter D, Jamal L, Calkins H, James C. Characterizing decision-making surrounding exercise in ARVC: analysis of decisional conflict, decisional regret, and shared decision-making. Circ Genom Precis Med. 2023;16:e004133–e004133.CrossRefPubMedPubMedCentral Sweeney J, Tichnell C, Christian S, Pendelton C, Murray B, Roter D, Jamal L, Calkins H, James C. Characterizing decision-making surrounding exercise in ARVC: analysis of decisional conflict, decisional regret, and shared decision-making. Circ Genom Precis Med. 2023;16:e004133–e004133.CrossRefPubMedPubMedCentral
17.
go back to reference Costa S, Koch K, Gasperetti A, Akdis D, Brunckhorst C, Fu G, Tanner F, Ruschitzka F, Duru F, Saguner A. Changes in exercise capacity and ventricular function in arrhythmogenic right ventricular cardiomyopathy: the impact of sports restriction during follow-up. J Clin Med. 2022;11. https://doi.org/10.3390/jcm11051150. Costa S, Koch K, Gasperetti A, Akdis D, Brunckhorst C, Fu G, Tanner F, Ruschitzka F, Duru F, Saguner A. Changes in exercise capacity and ventricular function in arrhythmogenic right ventricular cardiomyopathy: the impact of sports restriction during follow-up. J Clin Med. 2022;11. https://​doi.​org/​10.​3390/​jcm11051150.
18.
go back to reference Orphanou N, Papatheodorou E, Anastasakis A. Dilated cardiomyopathy in the era of precision medicine: latest concepts and developments. Heart Fail Rev. 2021;27(4):1173–91.CrossRefPubMedPubMedCentral Orphanou N, Papatheodorou E, Anastasakis A. Dilated cardiomyopathy in the era of precision medicine: latest concepts and developments. Heart Fail Rev. 2021;27(4):1173–91.CrossRefPubMedPubMedCentral
19.
go back to reference Voinescu OR, Ionescu BI, Militaru S, Afana AS, Sascau R, Vasiliu L, et al. Genetic Characterization of Dilated Cardiomyopathy in Romanian Adult Patients. Int J Mole Sci. 2024;25(5):2562.CrossRef Voinescu OR, Ionescu BI, Militaru S, Afana AS, Sascau R, Vasiliu L, et al. Genetic Characterization of Dilated Cardiomyopathy in Romanian Adult Patients. Int J Mole Sci. 2024;25(5):2562.CrossRef
20.
go back to reference Peters S, Johnson R, Birch S, Zentner D, Hershberger RE, Fatkin D. Familial Dilated Cardiomyopathy. Heart, Lung and Circulation. 2020;29(4):566–74.CrossRef Peters S, Johnson R, Birch S, Zentner D, Hershberger RE, Fatkin D. Familial Dilated Cardiomyopathy. Heart, Lung and Circulation. 2020;29(4):566–74.CrossRef
21.
22.
go back to reference Llerena-Velastegui J, Velastegui-Zurita S, Santander-Fuentes C, Dominguez-Gavilanes D, Roa-Guerra A, Clara A, et al. Advances and challenges in the diagnosis and management of left ventricular noncompaction in adults: a literature review. Curr Probl Cardiol. 2024;49(6):102571–1. A recent review of LVNC Llerena-Velastegui J, Velastegui-Zurita S, Santander-Fuentes C, Dominguez-Gavilanes D, Roa-Guerra A, Clara A, et al. Advances and challenges in the diagnosis and management of left ventricular noncompaction in adults: a literature review. Curr Probl Cardiol. 2024;49(6):102571–1.  A recent review of LVNC
26.
go back to reference Janzen ML, Davies B, Laksman ZWM, Roberts JD, Sanatani S, Steinberg C, Tadros R, Cadrin-Tourigny J, MacIntyre C, Atallah J, Fournier A, Green MS, Hamilton R, Khan HR, Kimber S, White S, Joza J, Makanjee B, Ilhan E, Lee D, Hansom S, Hadjis A, Arbour L, Leather R, Seifer C, Angaran P, Simpson CS, Healey JS, Gardner M, Talajic M, Krahn AD. Management of inherited arrhythmia syndromes: a HiRO Consensus Handbook on Process of Care. CJC Open. 2023;5(4):268–84. https://doi.org/10.1016/j.cjco.2023.02.006.CrossRefPubMedPubMedCentral Janzen ML, Davies B, Laksman ZWM, Roberts JD, Sanatani S, Steinberg C, Tadros R, Cadrin-Tourigny J, MacIntyre C, Atallah J, Fournier A, Green MS, Hamilton R, Khan HR, Kimber S, White S, Joza J, Makanjee B, Ilhan E, Lee D, Hansom S, Hadjis A, Arbour L, Leather R, Seifer C, Angaran P, Simpson CS, Healey JS, Gardner M, Talajic M, Krahn AD. Management of inherited arrhythmia syndromes: a HiRO Consensus Handbook on Process of Care. CJC Open. 2023;5(4):268–84. https://​doi.​org/​10.​1016/​j.​cjco.​2023.​02.​006.CrossRefPubMedPubMedCentral
28.
go back to reference Mazzanti A, Maragna R, Vacanti G, Monteforte N, Bloise R, Marino M, Braghieri L, Gambelli P, Memmi M, Pagan E, Morini M, Malovini A, Ortiz M, Sacilotto L, Bellazzi R, Monserrat L, Napolitano C, Bagnardi V, Priori SG. Interplay between genetic substrate, QTc duration, and arrhythmia risk in patients with long QT syndrome. J Am Coll Cardiol. 2018. Mazzanti A, Maragna R, Vacanti G, Monteforte N, Bloise R, Marino M, Braghieri L, Gambelli P, Memmi M, Pagan E, Morini M, Malovini A, Ortiz M, Sacilotto L, Bellazzi R, Monserrat L, Napolitano C, Bagnardi V, Priori SG. Interplay between genetic substrate, QTc duration, and arrhythmia risk in patients with long QT syndrome. J Am Coll Cardiol. 2018.
30.
go back to reference Pannone L, Bisignani A, Osei R, Gauthey A, Sorgente A, Monaco C, Della Rocca DG, Del Monte A, Strazdas A, Mojica J, Al Housari M, Miraglia V, Mouram S, Vetta G, Paparella G, Ramak R, Overeinder I, Bala G, Almorad A, Ströker E, Pappaert G, Sieira J, de Ravel T, La Meir M, Sarkozy A, Brugada P, Chierchia GB, Van Dooren S, de Asmundis C. Genetic testing in brugada syndrome: a 30-year experience. Circ Arrhythm Electrophysiol. 2024;17(4):e012374. https://doi.org/10.1161/CIRCEP.123.012374. A recent review of genetic testing in Brugada Syndrome Pannone L, Bisignani A, Osei R, Gauthey A, Sorgente A, Monaco C, Della Rocca DG, Del Monte A, Strazdas A, Mojica J, Al Housari M, Miraglia V, Mouram S, Vetta G, Paparella G, Ramak R, Overeinder I, Bala G, Almorad A, Ströker E, Pappaert G, Sieira J, de Ravel T, La Meir M, Sarkozy A, Brugada P, Chierchia GB, Van Dooren S, de Asmundis C. Genetic testing in brugada syndrome: a 30-year experience. Circ Arrhythm Electrophysiol. 2024;17(4):e012374. https://​doi.​org/​10.​1161/​CIRCEP.​123.​012374.  A recent review of genetic testing in Brugada Syndrome
31.
go back to reference Peltenburg PJ, Gibson H, Wilde AAM, van der Werf C, Clur S-AB, Blom NA. Prognosis and clinical management of asymptomatic family members with RYR2-mediated catecholaminergic polymorphic ventricular tachycardia: a review. Cardiology in the Young. Published online 2024:1–8. https://doi.org/10.1017/S1047951124000714. Peltenburg PJ, Gibson H, Wilde AAM, van der Werf C, Clur S-AB, Blom NA. Prognosis and clinical management of asymptomatic family members with RYR2-mediated catecholaminergic polymorphic ventricular tachycardia: a review. Cardiology in the Young. Published online 2024:1–8. https://​doi.​org/​10.​1017/​S104795112400071​4.
32.
go back to reference Peltenburg PJ, Pultoo SNJ, Tobert KE, et al. Repeatability of ventricular arrhythmia characteristics on the exercise-stress test in RYR2-mediated catecholaminergic polymorphic ventricular tachycardia. Europace. 2023;25:619–26.CrossRefPubMed Peltenburg PJ, Pultoo SNJ, Tobert KE, et al. Repeatability of ventricular arrhythmia characteristics on the exercise-stress test in RYR2-mediated catecholaminergic polymorphic ventricular tachycardia. Europace. 2023;25:619–26.CrossRefPubMed
33.
go back to reference Ng K, Titus EW, Lieve KV, et al. An international multicenter evaluation of inheritance patterns, arrhythmic risks, and underlying mechanisms of CASQ2-catecholaminergic polymorphic ventricular tachycardia. Circ. 2020;142:932–47.CrossRef Ng K, Titus EW, Lieve KV, et al. An international multicenter evaluation of inheritance patterns, arrhythmic risks, and underlying mechanisms of CASQ2-catecholaminergic polymorphic ventricular tachycardia. Circ. 2020;142:932–47.CrossRef
Metadata
Title
Familial Screening for Cardiomyopathies and Arrhythmias
Authors
Jessica Stansauk
Leslie McCallen
Dustin Nash
Kathryn Chatfield
Publication date
07-08-2024

Other articles of this Issue 3/2024

Current Pediatrics Reports 3/2024 Go to the issue

A quick guide to ECGs

Improve your ECG interpretation skills with this comprehensive, rapid, interactive course. Expert advice provides detailed feedback as you work through 50 ECGs covering the most common cardiac presentations to ensure your practice stays up to date. 

PD Dr. Carsten W. Israel
Developed by: Springer Medizin
Start the cases

Keynote webinar | Spotlight on medication adherence

  • Webinar | 27-06-2024 | 18:00 (CEST)

Medication non-adherence is a major barrier to effective healthcare delivery; half of all patients do not follow their doctor’s recommendations or treatment plan.

Our experts explain the fundamentals with a practical discussion of how to manage non-adherence in two common scenarios: hypertension and asthma control.

Prof. Kevin Dolgin
Prof. Florian Limbourg
Prof. Anoop Chauhan
Developed by: Springer Medicine
Watch now