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Hypertrophic cardiomyopathy

Published online by Cambridge University Press:  13 January 2017

Maully Shah
Maully Shah*
Affiliation:
Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, United States of America
*
Correspondence to: M. Shah, MBBS, The Cardiac Center, The Children’s Hospital of Philadelphia, 34th and Civic Center Boulevard, Philadelphia, PA 19104, United States of America. Tel: 267 425 6603; Fax: 215 590 1340; E-mail: Shahm@email.chop.edu
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Abstract

Hypertrophic cardiomyopathy is a common, inherited heart disease with a heterogeneous clinical presentation and natural history. Recently, advances in diagnosis and treatment options have been instrumental in decreasing the frequency of adverse clinical events; however, complete elimination of sudden cardiac death still remains an elusive gain. This article discusses several aspects of this condition in the young: epidemiology, clinical phenotypes, risk factors, prevention of sudden cardiac death, and risks of athletic participation.

Keywords

Hypertrophic cardiomyopathysudden deathchildrenathletes
Type
Original Articles
Information
Cardiology in the Young , Volume 27 , Supplement S1: Sudden Cardiac Arrest in the Young: A Contemporary Perspective , January 2017 , pp. S25 - S30
Copyright
© Cambridge University Press 2017 

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References

1. Teare, D. Asymmetric hypertrophy of the heart in young adults. Br Heart J 1958; 20: 1–8.Google Scholar
2. Braunwald, E, Brockenbrough, EC, Morrow, AG. Hypertrophic subaortic stenosis – a broadened concept. Circulation 1962; 26: 161–165.Google Scholar
3. Maron, BJ, Maron, MS. Hypertrophic cardiomyopathy. Lancet 2013; 381: 242–255.Google Scholar
4. Maron, BJ, Maron, MS, Semsarian, C. Genetics of hypertrophic cardiomyopathy after 20 years: clinical perspectives. J Am Coll Cardiol 2012; 60: 705–715.Google Scholar
5. Seidman, CE, Seidman, JG. Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal history. Circ Res 2011; 108: 743–750.CrossRefGoogle ScholarPubMed
6. Bos, JM, Towbin, JA, Ackerman, MJ. Diagnostic, prognostic, and therapeutic implications of genetic testing for hypertrophic cardiomyopathy. J Am Coll Cardiol 2009; 54: 201–211.Google Scholar
7. Ingles, J, Sarina, T, Yeates, L, et al. Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy. Genet Med 2013; 15: 972–977.Google Scholar
8. Niimura, H, Bachinski, LL, Sangwatanaroj, S, et al. Mutations in the gene for cardiac myosinbinding protein C and late-onset familial hypertrophic cardiomyopathy. N Engl J Med 1998; 338: 1248–1257.Google Scholar
9. Maron, BJ, Olivotto, I, Spirito, P, et al. Epidemiology of hypertrophic cardiomyopathy-related death: revisited in a large non-referral-based patient population. Circulation 2000; 102: 858–864.Google Scholar
10. Maron, BJ, Casey, SA, Poliac, LC, Gohman, TE, Almquist, AK, Aeppli, DM. Clinical course of hypertrophic cardiomyopathy in a regional United States cohort. JAMA 1999; 281: 650–655.Google Scholar
11. Shah, PM, Adelman, AG, Wigle, ED, et al. The natural (and unnatural) history of hypertrophicobstructive cardiomyopathy. Circ Res 1974; 35 (Suppl II): 179–195.Google Scholar
12. Hardarson, T, De la Calzada, CS, Curiel, R, Goodwin, JF. Prognosis and mortality of hypertrophic obstructive cardiomyopathy. Lancet 1973; 2: 1462–1467.Google Scholar
13. McKenna, WJ, Deanfield, JE. Hypertrophic cardiomyopathy: an important cause of sudden death. Arch Dis Child 1984; 59: 971–975.Google Scholar
14. Maron, BJ. Hypertrophic cardiomyopathy: a systematic review. JAMA 2002; 287: 1308–1320.Google Scholar
15. Maron, BJ, Rowin, EJ, Casey, SA, et al. Risk stratification and outcome of patients with hypertrophic cardiomyopathy over 60 years of age. Circulation 2013; 127: 585–593.Google Scholar
16. Gersh, BJ, Maron, BJ, Bonow, RO, et al. 2011 ACCF/AHA guidelines 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. Developed in collaboration with the American Association for Thoracic Surgery, American Society of Echocardiography, American Society of Nuclear Cardiology, Heart Failure Society of America, Heart Rhythm Society, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons. J Am Coll Cardiol 2011; 58: e212–e260.Google Scholar
17. Maron, BJ, Maron, MS. Contemporary strategies for risk stratification and prevention of sudden death with the implantable defibrillator in hypertrophic cardiomyopathy. Heart Rhythm 2016; 13: 1155–1165.Google Scholar
18. Decker, JA, Rossano, JW, Smith, EO, et al. Risk factors and mode of death in isolated hypertrophic cardiomyopathy in children. J Am Coll Cardiol 2009; 54: 250–254.Google Scholar
19. Ostman-Smith, I, Wettrell, G, Keeton, B, Riesenfeld, T, Holmgren, D, Ergander, U. Echocardiographic and electrocardiographic identification of those children with hypertrophic cardiomyopathy who should be considered at high-risk of dying suddenly. Cardiol Young 2005; 15: 632–642.Google Scholar
20. Ostman-Smith, I, Wisten, A, Nylander, E, et al. Electrocardiographic amplitudes: a new risk factor for sudden death in hypertrophic cardiomyopathy. Eur Heart J 2010; 31: 439–449.Google Scholar
21. Maron, BJ, Spirito, P, Ackerman, MJ, et al. Prevention of sudden cardiac death with the implantable cardioverter-defibrillator in children and adolescents with hypertrophic cardiomyopathy. J Am Coll Cardiol 2013; 61: 1527–1535.Google Scholar
22. Maron, BJ, Doerer, JJ, Haas, TS, Tierney, DM, Mueller, FO. Sudden deaths in young competitive athletes: analysis of 1866 deaths in the United States, 1980-2006. Circulation 2009; 119: 1085–1092.Google Scholar
23. Eckart, RE, Scoville, SL, Campbell, CL, et al. Sudden death in young adults: a 25-year review of autopsies in military recruits. Ann Intern Med 2004; 141: 829–834.Google Scholar
24. Meyer, L, Stubbs, B, Fahrenbruch, C, et al. Incidence, causes, and survival trends from cardiovascular-related sudden cardiac arrest in children and young adults 0 to 35 years of age: a 30-year review. Circulation 2012; 126: 1363–1372.CrossRefGoogle Scholar
25. Pelliccia, F, Cianfrocca, C, Pristipino, C, et al. Cumulative exercise-induced left ventricular systolic and diastolic dysfunction in hypertrophic cardiomyopathy. Int J Cardiol 2007; 122: 76–78.CrossRefGoogle ScholarPubMed
26. Sakata, K, Ino, H, Fujino, N, et al. Exercise-induced systolic dysfunction in patients with non-obstructive hypertrophic cardiomyopathy and mutations in the cardiac troponin genes. Heart 2008; 94: 1282–1287.CrossRefGoogle ScholarPubMed
27. Mitchell, JH, Maron, BJ, Epstein, SE. 16th Bethesda Conference: cardiovascular abnormalities in the athlete: recommendations regarding eligibility for competition. J Am Coll Cardiol 1985; 6: 1186–1232.Google Scholar
28. Maron, BJ, Zipes, DP. Introduction: eligibility recommendations for competitive athletes with cardiovascular abnormalities-general considerations. J Am Coll Cardiol 2005; 45: 1318–1321.Google Scholar
29. Maron, BJ, Udelson, JE, Bonow, RO, et al. American Heart Association Electrocardiography and Arrhythmias Committee of the Council on Clinical Cardiology, Council on Cardiovascular Disease in the Young, Council on Cardiovascular and Stroke Nursing, Council on Functional Genomics and Translational Biology, and the American College of Cardiology. Eligibility and disqualification recommendations for competitive athletes with cardiovascular abnormalities: Task Force 3: hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy and other cardiomyopathies, and myocarditis: a scientific statement from the American Heart Association and American College of Cardiology. Circulation 2015; 132: e273–e280.Google Scholar
30. Pelliccia, A, Fagard, R, Bjørnstad, HH, et al. Study Group of Sports Cardiology of the Working Group of Cardiac Rehabilitation and Exercise Physiology; Working Group of Myocardial and Pericardial Diseases of the European Society of Cardiology. Recommendations for competitive sports participation in athletes with cardiovascular disease: a consensus document from the Study Group of Sports Cardiology of the Working Group of Cardiac Rehabilitation and Exercise Physiology and the Working Group of Myocardial and Pericardial Diseases of the European Society of Cardiology. Eur Heart J 2005; 26: 1422–1445.Google Scholar
31. Reineck, E, Rolston, B, Bragg-Gresham, JL, et al. Physical activity and other health behaviors in adults with hypertrophic cardiomyopathy. Am J Cardiol 2013; 111: 1034–1039.Google Scholar
32. Maron, BJ, Klues, HG. Surviving competitive athletics with hypertrophic cardiomyopathy. Am J Cardiol 1994; 73: 1098–1104.CrossRefGoogle ScholarPubMed
32. Konhilas, JP, Watson, PA, Maass, A, et al. Exercise can prevent and reverse the severity of hypertrophic cardiomyopathy. Circ Res 2006; 98: 540–548.Google Scholar
34. Watson, PA, Reusch, JE, McCune, SA, et al. Restoration of CREB function is linked to completion and stabilization of adaptive cardiac hypertrophy in response to exercise. Am J Physiol Heart Circ Physiol 2007; 293: H246–H259.Google Scholar
35. Maron, BJ, Estes, NA 3rd, Maron, MS, Almquist, AK, Link, MS, Udelson, JE. Primary prevention of sudden death as a novel treatment strategy in hypertrophic cardiomyopathy. Circulation 2003; 107: 2872–2875.Google Scholar
36. Estes, NA 3rd, Link, MS, Cannom, D, et al. Expert Consensus Conference on Arrhythmias in the Athlete of the North American Society of Pacing and Electrophysiololgy. Report of the NASPE policy conference on arrhythmias and the athlete. J Cardiovasc Electrophysiol 2001; 12: 1208–1219.Google Scholar
37. Lampert, R, Olshansky, B, Heidbuchel, H, et al. Safety of sports for athletes with implantable cardioverter-defibrillators: results of a prospective, multinational registry. Circulation 2013; 127: 2021–2030.Google Scholar