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Insights into Imaging
Published in: Insights into Imaging 6/2018

Open Access 01-12-2018 | Pictorial Review

Phenotypes of hypertrophic cardiomyopathy. An illustrative review of MRI findings

Authors: Rafaela Soler, Cristina Méndez, Esther Rodríguez, Roberto Barriales, Juan Pablo Ochoa, Lorenzo Monserrat

Published in: Insights into Imaging | Issue 6/2018

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Abstract

Objective

The purpose of this article is to review how cardiac MRI provides the clinician with detailed information about the hypertrophic cardiomyopathy (HCM) phenotypes, assessing its morphological and functional consequences.

Conclusion

An understanding of cardiac MRI manifestations of HCM phenotypes will aid early diagnosis recognition and its functional consequences.

Teaching Points

• The phenotypic variability of HCM expands beyond myocardial hypertrophy, to include morphological and functional manifestations, ranging from subtle anomalies to remodelling of the LV with progressive dilatation and thinning of its wall.
• The stages of HCM, which are based on the clinical evidence of disease progression, include subclinical HCM, the classic HCM phenothype, adverse remodelling and overt dysfunction, or end-stage HCM.
• Cardiac MRI provides the clinician with detailed information regarding the HCM phenotypes and enables the assessment of its functional consequences.
Literature
1.
American College of Cardiology Foundation/American Heart Association Task Force on Practice, American Association for Thoracic Surgery, American Society of Echocardiography et al (2011) ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the american college of cardiology foundation/american heart association task force on practice guidelines. J Thorac Cardiovasc Surg 142:e153–e203CrossRef
2.
Authors/Task Force members, Elliott PM, Anastasakis A et al (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. Eur Heart J 35:2733–2779CrossRef
3.
Baxi AJ, Restrepo CS, Vargas D, Marmol-Velez A, Ocazionez D, Murillo H (2016) Hypertrophic cardiomyopathy from a to Z: genetics, pathophysiology, imaging, and management. Radiographics 36:335–354CrossRef
4.
Lopes LR, Zekavati A, Syrris P et al (2013) Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing. J Med Genet 50:228–239CrossRef
5.
Maron BJ, Maron MS, Semsarian C (2012) Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives. J Am Coll Cardiol 60:705–715CrossRef
6.
Hughes SE (2004) The pathology of hypertrophic cardiomyopathy. Histopathology 44:412–427CrossRef
7.
Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE (1995) Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA study. Coronary artery risk development in (young) adults. Circulation 92:785–789CrossRef
8.
Bogaert J, Olivotto I (2014) MR imaging in hypertrophic cardiomyopathy: from magnet to bedside. Radiology 273:329–348CrossRef
9.
Efthimiadis GK, Pagourelias ED, Hadjimiltiades S, Meditskou S, Karvounis H, McKenna WJ (2015) Feasibility and significance of preclinical diagnosis in hypertrophic cardiomyopathy. Cardiol Rev 23:297–302PubMed
10.
Moon JC, McKenna WJ (2012) Myocardial crypts: a prephenotypic marker of hypertrophic cardiomyopathy? Circ Cardiovasc Imaging 5:431–432CrossRef
11.
Maron MS, Olivotto I, Harrigan C et al (2011) Mitral valve abnormalities identified by cardiovascular magnetic resonance represent a primary phenotypic expression of hypertrophic cardiomyopathy. Circulation 124:40–47CrossRef
12.
Captur G, Lopes LR, Patel V et al (2014) Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression. Circ Cardiovasc Genet 7:241–248CrossRef
13.
Choudhury L, Rigolin VH, Bonow RO (2017) Integrated imaging in hypertrophic cardiomyopathy. Am J Cardiol 119:328–339CrossRef
14.
Chan RH, Maron BJ, Olivotto I et al (2014) Prognostic value of quantitative contrast-enhanced cardiovascular magnetic resonance for the evaluation of sudden death risk in patients with hypertrophic cardiomyopathy. Circulation 130:484–495CrossRef
15.
O’Hanlon R, Grasso A, Roughton M et al (2010) Prognostic significance of myocardial fibrosis in hypertrophic cardiomyopathy. J Am Coll Cardiol 56:867–874CrossRef
16.
Olivotto I, Cecchi F, Poggesi C, Yacoub MH (2012) Patterns of disease progression in hypertrophic cardiomyopathy: an individualized approach to clinical staging. Circ Heart Fail 5(4):535–546CrossRef
17.
Ho CY, Abbasi SA, Neilan TG et al (2013) T1 measurements identify extracellular volume expansion in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy. Circ Cardiovasc Imaging 6:415–422CrossRef
18.
Rowin EJ, Maron MS, Lesser JR, Maron BJ (2012) CMR with late gadolinium enhancement in genotype positive-phenotype negative hypertrophic cardiomyopathy. JACC Cardiovasc Imaging 5:119–122CrossRef
19.
Maron MS, Maron BJ (2015) Clinical impact of contemporary cardiovascular magnetic resonance imaging in hypertrophic cardiomyopathy. Circulation 132:292–298CrossRef
20.
Germans T, Wilde AA, Dijkmans PA et al (2006) Structural abnormalities of the inferoseptal left ventricular wall detected by cardiac magnetic resonance imaging in carriers of hypertrophic cardiomyopathy mutations. J Am Coll Cardiol 48:2518–2513CrossRef
21.
Deva DP, Williams LK, Care M et al (2013) Deep basal inferoseptal crypts occur more commonly in patients with hypertrophic cardiomyopathy due to disease causing myofilament mutations. Radiology 269:68–76CrossRef
22.
Maron MS, Rowin EJ, Lin D et al (2012) Prevalence and clinical profile of myocardial crypts in hypertrophic cardiomyopathy. Circ Cardiovasc Imaging 5:441–447CrossRef
23.
Cresti A, Cannarile P, Aldi E et al (2018) Multimodality imaging and clinical significance of congenital ventricular outpouchings: recesses, diverticula, aneurysms, clefts, and crypts. J Cardiovasc Echogr 28:9–17CrossRef
24.
Basso C, Marra P, Thiene G (2014) Myocardial clefts, crypts, or crevices once again, you see only what you look for. Circ Cardiovasc Imaging 17:217–219CrossRef
25.
Jiang L, Levine RA, King ME, Weyman AE (1987) An integrated mechanism for systolic anterior motion of the mitral valve in hypertrophic cardiomyopathy based on echocardiographic observations. Am Heart J 113:633–644CrossRef
26.
Klues HG, Proschan MA, Dollar AL, Spirito P, Roberts WC, Maron BJ (1993) Echocardiographic assessment of mitral valve size in obstructive hypertrophic cardiomyopathy. Anatomic validation from mitral valve specimen. Circulation 88:548–555CrossRef
27.
Maron MS (2012) Clinical utility of cardiovascular magnetic resonance in hypertrophic cardiomyopathy. J Cardiovasc Magn Reson 14:13CrossRef
28.
Tarkiainen M, Sipola P, Jalanko M et al (2016) Cardiovascular magnetic resonance of mitral valve length in hypertrophic cardiomyopathy. J Cardiovasc Magn Reson 18:33CrossRef
29.
Oechslin E, Jenni R (2011) Left ventricular non-compaction revisited: a distinct phenotype with genetic heterogeneity? Eur Heart J 32:1446–1456CrossRef
30.
Petersen SE, Selvanayagam JB, Francis JM et al (2005) Differentiation of athlete’s heart from pathological forms of cardiac hypertrophy by means of geometric indices derived from cardiovascular magnetic resonance. J Cardiovasc Magn Reson 7:551–558CrossRef
31.
Maron BJ, Pelliccia A, Spirito P (1995) Cardiac disease in young trained athletes. Insights into methods for distinguishing athlete’s heart from structural heart disease, with particular emphasis on hypertrophic cardiomyopathy. Circulation 91:1596–1601CrossRef
32.
Swoboda PP, McDiarmid AK, Erhayiem B et al (2016) Assessing myocardial extracellular volume by T1 mapping to distinguish hypertrophic cardiomyopathy from athlete’s heart. J Am Coll Cardiol 67:2189–2190CrossRef
33.
Maron BJ, Spirito P, Wesley Y, Arce J (1986) Development and progression of left ventricular hypertrophy in children with hypertrophic cardiomyopathy. N Engl J Med 315:610–614CrossRef
34.
Moon JC, Fisher NG, McKenna WJ, Pennell DJ (2004) Detection of apical hypertrophic cardiomyopathy by cardiovascular magnetic resonance in patients with non-diagnostic echocardiography. Heart 90:645–649CrossRef
35.
Maron MS, Maron BJ, Harrigan C et al (2009) Hypertrophic cardiomyopathy phenotype revisited after 50 years with cardiovascular magnetic resonance. J Am Coll Cardiol 54:220–228CrossRef
36.
Maron MS, Finley JJ, Bos JM et al (2008) Prevalence, clinical significance, and natural history of left ventricular apical aneurysms in hypertrophic cardiomyopathy. Circulation 118:1541–1549CrossRef
37.
Maron MS, Hauser TH, Dubrow E et al (2007) Right ventricular involvement in hypertrophic cardiomyopathy. Am J Cardiol 100:1293–1298CrossRef
38.
Tsang TS, Barnes ME, Gersh BJ, Bailey KR, Seward JB (2002) Left atrial volume as a morphophysiologic expression of left ventricular diastolic dysfunction and relation to cardiovascular risk burden. Am J Cardiol 90:1284–1289CrossRef
39.
Wu V, Chyou JY, Chung S, Bhagavatula S, Axel L (2014) Evaluation of diastolic function by three-dimensional volume tracking of the mitral annulus with cardiovascular magnetic resonance: comparison with tissue Doppler imaging. J Cardiovasc Magn Reson 16:71CrossRef
40.
Shehata ML, Cheng S, Osman NF, Bluemke DA, Lima JA (2009) Myocardial tissue tagging with cardiovascular magnetic resonance. J Cardiovasc Magn Reson 11:55CrossRef
41.
Patel P, Dhillon A, Popovic ZB et al (2015) Left ventricular outflow tract obstruction in hypertrophic cardiomyopathy patients without severe septal hypertrophy: implications of mitral valve and papillary muscle abnormalities assessed using cardiac magnetic resonance and echocardiography. Circ Cardiovasc Imaging 8:e003132PubMed
42.
Gruner C, Chan RH, Crean A et al (2014) Significance of left ventricular apical-basal muscle bundle identified by cardiovascular magnetic resonance imaging in patients with hypertrophic cardiomyopathy. Eur Heart J 35:2706–2713CrossRef
43.
Schulz-Menger J, Abdel-Aty H, Busjahn A et al (2006) Left ventricular outflow tract planimetry by cardiovascular magnetic resonance differentiates obstructive from non-obstructive hypertrophic cardiomyopathy. J Cardiovasc Magn Reson 8:741–746CrossRef
44.
O’Mahony C, Jichi F, Pavlou M et al (2014) A novel clinical risk prediction model for sudden cardiac death in hypertrophic cardiomyopathy (HCM risk-SCD). Eur Heart J 35:2010–2020CrossRef
45.
Nistri S, Olivotto I, Betocchi S et al (2006) Prognostic significance of left atrial size in patients with hypertrophic cardiomyopathy (from the Italian registry for hypertrophic cardiomyopathy). Am J Cardiol 98:960–965CrossRef
46.
Spirito P, Autore C, Formisano F et al (2014) Risk of sudden death and outcome in patients with hypertrophic cardiomyopathy with benign presentation and without risk factors. Am J Cardiol 113:1550–1555CrossRef
47.
Maceira AM, Cosín-Sales J, Roughton M, Prasad SK, Pennell DJ (2010) Reference left atrial dimensions and volumes by steady state free precession cardiovascular magnetic resonance. J Cardiovasc Magn Reson 12:65CrossRef
48.
Olivotto I, Cecchi F, Casey SA, Dolara A, Traverse JH, Maron BJ (2001) Impact of atrial fibrillation on the clinical course of hypertrophic cardiomyopathy. Circulation 104:2517–2524CrossRef
49.
Maron MS, Olivotto I, Maron BJ et al (2009) The case for myocardial ischemia in hypertrophic cardiomyopathy. J Am Coll Cardiol 54:866–875CrossRef
50.
Knaapen P, Germans T, Camici PG et al (2008) Determinants of coronary microvascular dysfunction in symptomatic hypertrophic cardiomyopathy. Am J Physiol Heart Circ Physiol 294:H986–H993CrossRef
51.
Cecchi F, Olivotto I, Gistri R, Lorenzoni R, Chiriatti G, Camici PG (2003) Coronary microvascular dysfunction and prognosis in hypertrophic cardiomyopathy. N Engl J Med 349:1027–3105CrossRef
52.
Olivotto I, Girolami F, Sciagrà R et al (2011) Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations. J Am Coll Cardiol 58:839–848CrossRef
53.
Romero-Farina G, Candell-Riera J, Galve E et al (2004) Do myocardial perfusion SPECT and radionuclide angiography studies in adult patients with hypertrophic cardiomyopathy have prognostic implications? J Nucl Cardiol 11:578–586CrossRef
54.
Petersen SE, Jerosch-Herold M, Hudsmith LE et al (2007) Evidence for microvascular dysfunction in hypertrophic cardiomyopathy: new insights from multiparametric magnetic resonance imaging. Circulation 115:2418–2425CrossRef
55.
Olivotto I, Maron BJ, Appelbaum E et al (2010) Spectrum and clinical significance of systolic function and myocardial fibrosis assessed by cardiovascular magnetic resonance in hypertrophic cardiomyopathy. Am J Cardiol 106:261–267CrossRef
56.
Ho CY, López B, Coelho-Filho OR et al (2010) Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy. N Engl J Med 363:552–563CrossRef
57.
Bruder O, Wagner A, Jensen CJ et al (2010) Myocardial scar visualized by cardiovascular magnetic resonance imaging predicts major adverse events in patients with hypertrophic cardiomyopathy. J Am Coll Cardiol 56:875–887CrossRef
58.
Rubinshtein R, Glockner JF, Ommen SR et al (2010) Characteristics and clinical significance of late gadolinium enhancement by contrast-enhanced magnetic resonance imaging in patients with hypertrophic cardiomyopathy. Circ Heart Fail 3:51–58CrossRef
59.
Tyan CC, Armstrong S, Scholl D et al (2013) Stress hypoperfusion and tissue injury in hypertrophic cardiomyopathy: spatial characterization using high-resolution 3-tesla magnetic resonance imaging. Circ Cardiovasc Imaging 6:229–238CrossRef
60.
Puntmann VO, Voigt T, Chen Z et al (2013) Native T1 mapping in differentiation of normal myocardium from diffuse disease in hypertrophic and dilated cardiomyopathy. JACC Cardiovasc Imaging 6:475–484CrossRef
61.
Dass S, Suttie JJ, Piechnik SK et al (2012) Myocardial tissue characterization using magnetic resonance noncontrast t1 mapping in hypertrophic and dilated cardiomyopathy. Circ Cardiovasc Imaging 5:726–733CrossRef
62.
Sado DM, Flett AS, Banypersad SM et al (2012) Cardiovascular magnetic resonance measurement of myocardial extracellular volume in health and disease. Heart 98:1436–1441CrossRef
63.
Rodrigues JC, Rohan S, Ghosh Dastidar A et al (2017) Hypertensive heart disease versus hypertrophic cardiomyopathy: multi-parametric cardiovascular magnetic resonance discriminators when end-diastolic wall thickness ≥ 15 mm. Eur Radiol 27:1125–1135CrossRef
64.
Sado DM, White SK, Piechnik SK et al (2013) Identification and assessment of Anderson-Fabry disease by cardiovascular magnetic resonance noncontrast myocardial T1 mapping. Circ Cardiovasc Imaging 6:392–398CrossRef
65.
Fontana M, Banypersad SM, Treibel TA et al (2014) Native T1 mapping in transthyretin amyloidosis. JACC Cardiovasc Imaging 7:157–165CrossRef
66.
Maron BJ, Maron MS (2016) LGE means better selection of HCM patients for primary prevention implantable defibrillators. JACC Cardiovasc Imaging 9:1403–1406CrossRef
67.
Christiaans I, van Engelen K, van Langen IM et al (2010) Risk stratification for sudden cardiac death in hypertrophic cardiomyopathy: systematic review of clinical risk markers. Europace 12:313–321CrossRef
68.
He D, Ye M, Zhang L, Jiang B (2018) Prognostic significance of late gadolinium enhancement on cardiac magnetic resonance in patients with hypertrophic cardiomyopathy. Heart Lung 47:122–126CrossRef
69.
Rowin EJ, Maron MS (2016) The role of cardiac MRI in the diagnosis and risk stratification of hypertrophic cardiomyopathy. Arrhythm Electrophysiol Rev 5:197–202CrossRef
70.
Todiere G, Pisciella L, Barison A et al (2014) Abnormal T2-STIR magnetic resonance in hypertrophic cardiomyopathy: a marker of advanced disease and electrical myocardial instability. PLoS One 9:e111366CrossRef
71.
Gommans DHF, Cramer GE, Bakker J et al (2018) High T2-weighted signal intensity for risk prediction of sudden cardiac death in hypertrophic cardiomyopathy. Int J Cardiovasc Imaging 34:113–120CrossRef
72.
Harris KM, Spirito P, Maron MS et al (2006) Prevalence, clinical profile, and significance of left ventricular remodeling in the end-stage phase of hypertrophic cardiomyopathy. Circulation 114:216–225CrossRef
73.
Maron BJ, Spirito P (1998) Implications of left ventricular remodeling in hypertrophic cardiomyopathy. Am J Cardiol 81:1339–1344CrossRef
Metadata
Title
Phenotypes of hypertrophic cardiomyopathy. An illustrative review of MRI findings
Authors
Rafaela Soler
Cristina Méndez
Esther Rodríguez
Roberto Barriales
Juan Pablo Ochoa
Lorenzo Monserrat
Publication date
01-12-2018
Publisher
Springer Berlin Heidelberg
Published in
Insights into Imaging / Issue 6/2018
Electronic ISSN: 1869-4101
DOI
https://doi.org/10.1007/s13244-018-0656-8

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