The modern view on the diagnosis and treatment of hypertrophic cardiomyopathy

Lysenko A.V.; Lednev P.V.; Salagaev G.I.; Sinyavin G.V.; Barinov E.V.; Grabuzdov A.M.; Belov Yu.V.

doi:https://doi.org/10.17116/kardio20191201138

Close metadata

Recommended articles:

Interventricular septum anatomy in obstructive hypertrophic cardiomyopathy. Russian Journal of Cardiology and Cardiovascular Surgery. 2025;(1):15-22

Long-term outcomes after ethanol septal ablation in the treatment of patients with hypertrophic cardiomyopathy. Russian Journal of Cardiology and Cardiovascular Surgery. 2025;(1):23-27

Clinical manifestation of apical hypertrophic cardiomyopathy by syncope in the elderly. Russian Journal of Cardiology and Cardiovascular Surgery. 2025;(2):237-243

Selection of optimal aortotomy in various cardiac surgeries. Russian Journal of Cardiology and Cardiovascular Surgery. 2025;(3):306-309

Septal myectomy in aortic valve replacement for severe aortic stenosis. Russian Journal of Cardiology and Cardiovascular Surgery. 2025;(3):326-334

Transapical myectomy in a child with hypertrophic cardiomyopathy. Russian Journal of Cardiology and Cardiovascular Surgery. 2025;(3):357-362

Redo surgical treatment of a patient with hypertrophic cardiomyopathy and recurrent left ventricular outflow tract obstruction. Pirogov Russian Journal of Surgery. 2025;(2):123-127

Analysis of differential gene expression in myocardial tissue from patients with hypertrophic cardiomyopathy. Molecular Genetics, Microbiology and Virology. 2025;(1):17-23

Clinical features of myocardial infarction in young patients. Part 2. Predictors of sudden cardiac death and recurrent cardiovascular events. Russian Journal of Preventive Medicine. 2025;(10):60-66

Meta-analysis on the relevance of septal myectomy in aortic valve replacement. Pirogov Russian Journal of Surgery. 2025;(10-2):94-99

Abstract:

Hypertrophic cardiomyopathy is a common genetic disease with prevalence near 0.2%. Natural course of disease can lead to onset and progression of heart failure, sudden cardiac death. Historical aspect, modern diagnostic methods (including molecular-genetic approach), medical and surgical treatment are reviewed in the article. Particular attention is paid to perspective diagnostic and curative strategies.

Keywords:

hypertrophic cardiomyopathy

cardiomyopathy

genetic diagnosis

sudden cardiac death

myocardial sarcomere

anterior systolic motion

septal myectomy

left ventricular outflow tract obstruction

Authors:

Lysenko A.V.

Pervyĭ MGMU im. I.M. Sechenova;
Moskovskiĭ NII pediatrii i detskoĭ khirurgii

Lednev P.V.

Otdelenie kardiokhirurgii kliniki aortal'noĭ i serdechno-sosudistoĭ khirurgii Pervogo MGMU im. I.M. Sechenova

Salagaev G.I.

Chair of Cardiovascular Surgery and Interventional Cardiology, I.M. Sechenov First Moscow State Medical University (head — MD R.N. Komarov), acad. B.V. Petrovsky Russian Research Center for Surgery (director — acad. of RAS Yu.V. Belov), Moscow, Russia

ORCID: 0000-0002-7210-8366

Sinyavin G.V.

Department of Cardiovascular Surgery and Interventional Cardiology, Sechenov First Moscow State Medical University, Moscow, Russia

Barinov E.V.

Sechenov First Moscow State Medical University, Moscow, Russia

Grabuzdov A.M.

Sechenov First Moscow State Medical University, Moscow, Russia

Belov Yu.V.

RNTsKh im. akad. B.V. Petrovskogo RAMN

SPIN RSCI: 2740-1439
Scopus AuthorID: 7101862336
ResearcherID: 7101862336
ORCID: 0000-0002-9280-8845

Close metadata

References:

Seidman JG, Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell. 2001;104(4):557-567.
Watkins H, Thierfelder L, Hwang DS, McKenna W, Seidman JG, Seidman CE. Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations. J Clin Invest. 1992;90(5):1666-1671. https://doi.org/10.1172/JCI116038
Ackerman MJ, Van Driest SL, Ommen SR, Will ML, Nishimura RA, Tajik AJ, et al. Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective. J Am Coll Cardiol. 2002;39(12):2042-2048.
Olivotto I, Cecchi F, Casey SA, Dolara A, Traverse JH, Maron BJ. Impact of atrial fibrillation on the clinical course of hypertrophic cardiomyopathy. Circulation. 2001;104(21):2517-2524.
Ho CY. Genetics and clinical destiny: improving care in hypertrophic cardiomyopathy. Circulation. 2010;122(23):2430-2440; discussion 2440. https://doi.org/10.1161/CIRCULATIONAHA.110.978924
Maron BJ, Olivotto I, Spirito P, Casey SA, Bellone P, Gohman TE, et al. Epidemiology of hypertrophic cardiomyopathy-related death: revisited in a large non-referral-based patient population. Circulation. 2000;102(8):858-864.
Bos JM, Towbin JA, Ackerman MJ. Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy. J Am Coll Cardiol. 2009;54(3):201-211. https://doi.org/10.1016/j.jacc.2009.02.075
Maron BJ, Niimura H, Casey SA, Soper MK, Wright GB, Seidman JG, et al. Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations. J Am Coll Cardiol. 2001;38(2):315-321.
Wheeler M, Pavlovic A, DeGoma E, Salisbury H, Brown C, Ashley EA. A new era in clinical genetic testing for hypertrophic cardiomyopathy. J Cardiovasc Transl Res. 2009;2(4):381-391. https://doi.org/10.1007/s12265-009-9139-0
Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. 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. 1995;92(4):785-789.
Petrone RK, Klues HG, Panza JA, Peterson EE, Maron BJ. Coexistence of mitral valve prolapse in a consecutive group of 528 patients with hypertrophic cardiomyopathy assessed with echocardiography. J Am Coll Cardiol. 1992;20(1):55-61.
Kirklin JW, Ellis FH. Surgical relief of diffuse subvalvular aortic stenosis. Circulation. 1961;24:739-742.
Morrow AG, Brockenbrough EC. Surgical treatment of idiopathic hypertrophic subaortic stenosis: technic and hemodynamic results of subaortic ventriculomyotomy. Ann Surg. 1961;154:181-189.
Cleland WP. The surgical management of obstructive cardiomyopathy. J Cardiovasc Surg (Torino). 1963;4:489-491.
Brock R. Functional obstruction of the left ventricle; acquired aortic subvalvar stenosis. Guys Hosp Rep. 1957;106(4):221-238.
Morrow AG, Braunwald E. Functional aortic stenosis; a malformation characterized by resistance to left ventricular outflow without anatomic obstruction. Circulation. 1959;20(2):181-189.
Braunwald E, Lambrew CT, Rockoff SD, Ross J, Morrow AG. Idiopathic hypertrophic subaortic stenosis. I. A description of the disease based upon an analysis of 64 patients. Circulation. 1964;30: suppl 4:3-119.
Teare D. Asymmetrical hypertrophy of the heart in young adults. Br Heart J. 1958;20(1):1-8.
Hollman A, Goodwin JF, Teare D, Renwick JW. A family with obstructive cardiomyopathy (asymmetrical hypertrophy). Br Heart J. 1960;22:449-456.
Maron BJ, Maron MS. Hypertrophic cardiomyopathy. Lancet Lond Engl. 2013;381(9862):242-255. https://doi.org/10.1016/S0140-6736(12)60397-3
Morrow AG, Fogarty TJ, Hannah H, Braunwald E. Operative treatment in idiopathic hypertrophic subaortic stenosis. Techniques, and the results of preoperative and postoperative clinical and hemodynamic assessments. Circulation. 1968;37(4):589-596.
Clark CE, Henry WL, Epstein SE. Familial prevalence and genetic transmission of idiopathic hypertrophic subaortic stenosis. N Engl J Med. 1973;289(14):709-714. https://doi.org/10.1056/NEJM197310042891402
O’Gara PT, Bonow RO, Maron BJ, Damske BA, Van Lingen A, Bacharach SL, et al. Myocardial perfusion abnormalities in patients with hypertrophic cardiomyopathy: assessment with thallium-201 emission computed tomography. Circulation. 1987;76(6):1214-1223.
Nienaber CA, Gambhir SS, Mody FV, Ratib O, Huang SC, Phelps ME, et al. Regional myocardial blood flow and glucose utilization in symptomatic patients with hypertrophic cardiomyopathy. Circulation. 1993;87(5):1580-1590.
Cecchi F, Olivotto I, Gistri R, Lorenzoni R, Chiriatti G, Camici PG. Coronary microvascular dysfunction and prognosis in hypertrophic cardiomyopathy. N Engl J Med. 2003;349(11):1027-1035. https://doi.org/10.1056/NEJMoa025050
Nagueh SF, Bierig SM, Budoff MJ, Desai M, Dilsizian V, Eidem B, et al. American Society of Echocardiography clinical recommendations for multimodality cardiovascular imaging of patients with hypertrophic cardiomyopathy: Endorsed by the American Society of Nuclear Cardiology, Society for Cardiovascular Magnetic Resonance, and Society of Cardiovascular Computed Tomography. J Am Soc Echocardiogr Off Publ Am Soc Echocardiogr. 2011;24(5):473-498. https://doi.org/10.1016/j.echo.2011.03.006
Wigle ED, Sasson Z, Henderson MA, Ruddy TD, Fulop J, Rakowski H, et al. Hypertrophic cardiomyopathy. The importance of the site and the extent of hypertrophy. A review. Prog Cardiovasc Dis. 1985;28(1):1-83.
Pollick C, Rakowski H, Wigle ED. Muscular subaortic stenosis: the quantitative relationship between systolic anterior motion and the pressure gradient. Circulation. 1984;69(1):43-49.
Spirito P, Maron BJ. Patterns of systolic anterior motion of the mitral valve in hypertrophic cardiomyopathy: assessment by two-dimensional echocardiography. Am J Cardiol. 1984;54(8):1039-1046.
Maron BJ, Harding AM, Spirito P, Roberts WC, Waller BF. Systolic anterior motion of the posterior mitral leaflet: a previously unrecognized cause of dynamic subaortic obstruction in patients with hypertrophic cardiomyopathy. Circulation. 1983;68(2):282-293.
Sherrid MV, Gunsburg DZ, Moldenhauer S, Pearle G. Systolic anterior motion begins at low left ventricular outflow tract velocity in obstructive hypertrophic cardiomyopathy. J Am Coll Cardiol. 2000;36(4):1344-1354.
Cape EG, Simons D, Jimoh A, Weyman AE, Yoganathan AP, Levine RA. Chordal geometry determines the shape and extent of systolic anterior mitral motion: in vitro studies. J Am Coll Cardiol. 1989;13(6):1438-1448.
Shah PM, Taylor RD, Wong M. Abnormal mitral valve coaptation in hypertrophic obstructive cardiomyopathy: proposed role in systolic anterior motion of mitral valve. Am J Cardiol. 1981;48(2):258-262.
Maron BJ. Hypertrophic cardiomyopathy: a systematic review. JAMA. 2002;287(10):1308-1320.
Maron BJ, McKenna WJ, Danielson GK, Kappenberger LJ, Kuhn HJ, Seidman CE, et al. American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines. J Am Coll Cardiol. 2003;42(9):1687-1713.
Klues HG, Schiffers A, Maron BJ. Phenotypic spectrum and patterns of left ventricular hypertrophy in hypertrophic cardiomyopathy: morphologic observations and significance as assessed by two-dimensional echocardiography in 600 patients. J Am Coll Cardiol. 1995;26(7):1699-1708. https://doi.org/10.1016/0735-1097(95)00390-8
Maron MS, Olivotto I, Betocchi S, Casey SA, Lesser JR, Losi MA, et al. Effect of left ventricular outflow tract obstruction on clinical outcome in hypertrophic cardiomyopathy. N Engl J Med. 2003;348(4):295-303. https://doi.org/10.1056/NEJMoa021332
Sherrid MV, Balaram S, Kim B, Axel L, Swistel DG. The Mitral Valve in Obstructive Hypertrophic Cardiomyopathy: A Test in Context. J Am Coll Cardiol. 2016;67(15):1846-1858. https://doi.org/10.1016/j.jacc.2016.01.071
Afonso LC, Bernal J, Bax JJ, Abraham TP. Echocardiography in hypertrophic cardiomyopathy: the role of conventional and emerging technologies. JACC Cardiovasc Imaging. 2008;1(6):787-800. https://doi.org/10.1016/j.jcmg.2008.09.002
Maron MS, Olivotto I, Zenovich AG, Link MS, Pandian NG, Kuvin JT, et al. Hypertrophic cardiomyopathy is predominantly a disease of left ventricular outflow tract obstruction. Circulation. 2006;114(21):2232-2239. https://doi.org/10.1161/CIRCULATIONAHA.106.644682
Panza JA, Petrone RK, Fananapazir L, Maron BJ. Utility of continuous wave Doppler echocardiography in the noninvasive assessment of left ventricular outflow tract pressure gradient in patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 1992;19(1):91-99.
Liew AC, Vassiliou VS, Cooper R, Raphael CE. Hypertrophic Cardiomyopathy-Past, Present and Future. J Clin Med. 2017;6(12). https://doi.org/10.3390/jcm6120118.
Schulz-Menger J, Abdel-Aty H, Busjahn A, Wassmuth R, Pilz B, Dietz R, et al. Left ventricular outflow tract planimetry by cardiovascular magnetic resonance differentiates obstructive from non-obstructive hypertrophic cardiomyopathy. J Cardiovasc Magn Reson Off J Soc Cardiovasc Magn Reson. 2006;8(5):741-746. https://doi.org/10.1080/10976640600737383
Masci PG, Dymarkowski S, Bogaert J. Valvular heart disease: what does cardiovascular MRI add? Eur Radiol. 2008;18(2):197-208. https://doi.org/10.1007/s00330-007-0731-x
Noureldin RA, Liu S, Nacif MS, Judge DP, Halushka MK, Abraham TP, et al. The diagnosis of hypertrophic cardiomyopathy by cardiovascular magnetic resonance. J Cardiovasc Magn Reson Off J Soc Cardiovasc Magn Reson. 2012;14:17. https://doi.org/10.1186/1532-429X-14-17
Bruder O, Wagner A, Jensen CJ, Schneider S, Ong P, Kispert E-M, et al. Myocardial scar visualized by cardiovascular magnetic resonance imaging predicts major adverse events in patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2010;56(11):875-887. https://doi.org/10.1016/j.jacc.2010.05.007
O’Hanlon R, Grasso A, Roughton M, Moon JC, Clark S, Wage R, et al. Prognostic significance of myocardial fibrosis in hypertrophic cardiomyopathy. J Am Coll Cardiol. 2010;56(11):867-874. https://doi.org/10.1016/j.jacc.2010.05.010
Weng Z, Yao J, Chan RH, He J, Yang X, Zhou Y, et al. Prognostic Value of LGE-CMR in HCM: A Meta-Analysis. JACC Cardiovasc Imaging. 2016;9(12):1392-1402. https://doi.org/10.1016/j.jcmg.2016.02.031
Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, et al., eds. GeneReviews. Seattle (WA): University of Washington, Seattle, 1993. Accessed March 28, 2018. https://www.ncbi.nlm.nih.gov/books/NBK1116/
Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, et al. 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: executive summary: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines. Circulation. 2011;124(24):2761-2796. https://doi.org/10.1161/CIR.0b013e318223e230
Ingles J, Sarina T, Yeates L, Hunt L, Macciocca I, McCormack L, et al. Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy. Genet Med Off J Am Coll Med Genet. 2013;15(12):972-977. https://doi.org/10.1038/gim.2013.44
ACCF/AHA Pocket Guideline Adapted from the 2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy November 2011ACCF/AHA Pocket Guideline Adapted from the 2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy November 2011
Maron MS, Rowin EJ, Lin D, Appelbaum E, Chan RH, Gibson CM, et al. Prevalence and clinical profile of myocardial crypts in hypertrophic cardiomyopathy. Circ Cardiovasc Imaging. 2012;5(4):441-447. https://doi.org/10.1161/CIRCIMAGING.112.972760
Ommen SR, Maron BJ, Olivotto I, Maron MS, Cecchi F, Betocchi S, et al. Long-term effects of surgical septal myectomy on survival in patients with obstructive hypertrophic cardiomyopathy. J Am Coll Cardiol. 2005;46(3):470-476. https://doi.org/10.1016/j.jacc.2005.02.090
Ferrazzi P, Spirito P, Iacovoni A, Calabrese A, Migliorati K, Simon C, et al. Transaortic Chordal Cutting: Mitral Valve Repair for Obstructive Hypertrophic Cardiomyopathy With Mild Septal Hypertrophy. J Am Coll Cardiol. 2015;66(15):1687-1696. https://doi.org/10.1016/j.jacc.2015.07.069
Sigwart U. Non-surgical myocardial reduction for hypertrophic obstructive cardiomyopathy. Lancet Lond Engl. 1995;346(8969):211-214.
Spirito P, Maron BJ. Perspectives on the role of new treatment strategies in hypertrophic obstructive cardiomyopathy. J Am Coll Cardiol. 1999;33(4):1071-1075.
Vriesendorp PA, Liebregts M, Steggerda RC, Schinkel AFL, Willems R, Ten Cate FJ, et al. Long-term outcomes after medical and invasive treatment in patients with hypertrophic cardiomyopathy. JACC Heart Fail. 2014;2(6):630-636. https://doi.org/10.1016/j.jchf.2014.06.012
McKenna WJ, Deanfield JE. Hypertrophic cardiomyopathy: an important cause of sudden death. Arch Dis Child. 1984;59(10):971-975.
Spirito P, Seidman CE, McKenna WJ, Maron BJ. The management of hypertrophic cardiomyopathy. N Engl J Med. 1997;336(11):775-785. https://doi.org/10.1056/NEJM199703133361107
Basso C, Thiene G, Corrado D, Buja G, Melacini P, Nava A. Hypertrophic cardiomyopathy and sudden death in the young: pathologic evidence of myocardial ischemia. Hum Pathol. 2000;31(8):988-998. https://doi.org/10.1053/hupa.2000.16659
Maron BJ, Wolfson JK, Epstein SE, Roberts WC. Intramural (“small vessel”) coronary artery disease in hypertrophic cardiomyopathy. J Am Coll Cardiol. 1986;8(3):545-557.
Vassiliou VS, Heng EL, Gatehouse PD, Donovan J, Raphael CE, Giri S, et al. Magnetic resonance imaging phantoms for quality-control of myocardial T1 and ECV mapping: specific formulation, long-term stability and variation with heart rate and temperature. J Cardiovasc Magn Reson Off J Soc Cardiovasc Magn Reson. 2016;18(1):62. https://doi.org/10.1186/s12968-016-0275-9
Lu M, Zhao S, Yin G, Jiang S, Zhao T, Chen X, et al. T1 mapping for detection of left ventricular myocardial fibrosis in hypertrophic cardiomyopathy: a preliminary study. Eur J Radiol. 2013;82(5):e225-231. https://doi.org/10.1016/j.ejrad.2012.12.014
Puntmann VO, Voigt T, Chen Z, Mayr M, Karim R, Rhode K, et al. Native T1 mapping in differentiation of normal myocardium from diffuse disease in hypertrophic and dilated cardiomyopathy. JACC Cardiovasc Imaging. 2013;6(4):475-484. https://doi.org/10.1016/j.jcmg.2012.08.019
Coppini R, Mazzoni L, Ferrantini C, Gentile F, Pioner JM, Laurino A, et al. Ranolazine Prevents Phenotype Development in a Mouse Model of Hypertrophic Cardiomyopathy. Circ Heart Fail. 2017;10(3). https://doi.org/10.1161/CIRCHEARTFAILURE.116.003565
Grillo MP, Erve JCL, Dick R, Driscoll JP, Haste N, Markova S, et al. In vitro and in vivo pharmacokinetic characterization of mavacamten, a first-in-class small molecule allosteric modulator of beta cardiac myosin. Xenobiotica Fate Foreign Compd Biol Syst. 2018 July;1-55. https://doi.org/10.1080/00498254.2018.1495856
Green EM, Wakimoto H, Anderson RL, Evanchik MJ, Gorham JM, Harrison BC, et al. A small-molecule inhibitor of sarcomere contractility suppresses hypertrophic cardiomyopathy in mice. Science. 2016;351(6273):617-621. https://doi.org/10.1126/science.aad3456