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Hypertrophic cardiomyopathy: management, risk stratification, and prevention of sudden death
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  1. William J McKenna,
  2. Elijah R Behr
  1. Correspondence to:
    William J McKenna, MD, Department of Cardiological Sciences, St George's Hospital Medical School, Cranmer Road, London SW17 0RE, UK;
    wmckenna{at}sghms.ac.uk

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Hypertrophic cardiomyopathy (HCM) is an inherited cardiac muscle disorder disease that affects sarcomeric proteins, resulting in small vessel disease, myocyte and myofibrillar disorganisation, and fibrosis with or without myocardial hypertrophy. These features may result in significant cardiac symptoms and are a potential substrate for arrhythmias. Before the identification of disease causing genes the World Health Organization defined HCM as the presence of left or biventricular hypertrophy in the absence of any cardiac or systemic cause.w1 When these criteria are applied to a western population the estimated prevalence of HCM is approximately 1 in 500.1w2 Morphological evidence of left ventricular hypertrophy, however, may be absent in up to 20% of gene carriers.w3 Adults are often asymptomatic but their estimated mortality rate may nonetheless be as high as 1–2% per annum.2w4 This article will present the natural history of HCM and relate it to the need for medical intervention to alleviate symptoms and prevent sudden death.

NATURAL HISTORY AND PROGNOSIS

The expression of disease is age related, occurring during or soon after periods of rapid somatic growth. Detectable cardiovascular abnormalities usually develop during adolescence.w5 For this reason the regular evaluation of the offspring of carriers during puberty and early adulthood is necessary for diagnosis and risk stratification. HCM has been described in infants and young children but data are limited. Children diagnosed before 14 years of age have a worse prognosis once they reach adolescence and early adulthood with a 2–4% annual incidence of sudden death.3 The development of clinical features of HCM in the elderly is associated with myosin binding protein C (MyBPC) mutations.w6 Although MyBPC disease appears benign in that presentation is in the later decades, once disease develops patients are at risk of all the recognised complications of HCM including arrhythmia, stroke, and sudden …

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    1 Richardson P, McKenna W, Bristow M, et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies [news] [see comments]. Circulation 1996;93:841-842.

    2 Nistri S, Thiene G, Basso C, Corrado D, Scognamglio R, Maron BJ. Preparticipation Military Screening and Echocardiographic (phenotypic) Prevalence of Hypertrophic Cardiomyopathy. Eur Heart J 1999;20:16-16.(Abstract)

    3 McKenna WJ, Spirito P, Desnos M, Dubourg O, Komajda M. Experience from clinical genetics in hypertrophic cardiomyopathy: proposal for new diagnostic criteria in adult members of affected families. Heart 1997;77:130-132.

    4 Maron BJ, Casey SA, Poliac LC, Gohman TE, Almquist AK, Aeppli DM. Clinical course of hypertrophic cardiomyopathy in a regional United States cohort [published erratum appears in JAMA 1999 Jun 23-30;281(24):2288]. JAMA 1999;281:650-655.

    5 Maron BJ, Spirito P, Wesley Y, Arce J. Development and progression of left ventricular hypertrophy in children with hypertrophic cardiomyopathy. N.Engl.J Med. 1986;315:610-614.

    6 Niimura H, Bachinski LL, Sangwatanaroj S, et al. Mutations in the gene for cardiac myosin-binding protein C and late- onset familial hypertrophic cardiomyopathy [see comments]. N.Engl.J Med. 1998;338:1248-1257.

    7 Moolman JA, Reith S, Uhl K, et al. A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance [In Process Citation]. Circulation 2000.Mar.28.;101.(12.):1396.-402.101:1396-1402.

    8 McKenna W, Elliott PM. Hypertrophic Cardiomyopathy. In: Comprehensive Cardiovascular Medicine. Topol EJ. ed. Lipincott-Raven, Philadelphia, New York, 1998;775-798.

    9 Stafford WJ, Trohman RG, Bilsker M, Zaman L, Castellanos A, Myerburg RJ. Cardiac arrest in an adolescent with atrial fibrillation and hypertrophic cardiomyopathy. J Am.Coll.Cardiol. 1986;7:701-704.

    10 Maron BJ, Bonow RO, Cannon RO, Leon MB, Epstein SE. Hypertrophic cardiomyopathy. Interrelations of clinical manifestations, pathophysiology, and therapy (2). N.Engl.J.Med. 1987; 316:844-852.

    11 Pollick C, Kimball B, Henderson M, Wigle ED. Disopyramide in hypertrophic cardiomyopathy. I. Hemodynamic assessment after intravenous administration [see comments]. Am.J Cardiol. 1988;62:1248-1251.

    12 Robbins RC, Stinson EB. Long-term results of left ventricular myotomy and myectomy for obstructive hypertrophic cardiomyopathy. J.Thorac.Cardiovasc.Surg. 1996;111:586-594.

    13 Kappenberger L, Linde C, Daubert C, et al. Pacing in hypertrophic obstructive cardiomyopathy. A randomized crossover study. PIC Study Group. Eur.Heart J 1997;18:1249-1256.

    14 Linde C, Gadler F, Kappenberger L, Ryden L. Placebo effect of pacemaker implantation in obstructive hypertrophic cardiomyopathy. PIC Study Group. Pacing In Cardiomyopathy. Am.J Cardiol. 1999;83:903-907.

    15 Sadoul N, Simon JP, de Chillou C, et al. Dual chamber pacemaker therapy in obstructive hypertrophic cardiomyopathy. Circulation 1995;92:1062-1064.

    16 Knight CJ. Five years of percutaneous transluminal septal myocardial ablation. Heart 2000.Mar.;83.(3.):255.-6.83:255-256.

    17 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.

    18 Doi Y, Kitaoka H. Hypertrophic cardiomyopathy in the elderly: significance of atrial fibrillation. J Cardiol.2001.;37.Suppl.1.:133.-8.37 Suppl 1:133-8.:133-138.

    19 Olivotto I, Maron BJ, Cecchi F. Clinical significance of atrial fibrillation in hypertrophic cardiomyopathy. Curr.Cardiol.Rep.2001.Mar.;3.(2.):141.-6.3:141-146.

    20 Krikler DM, Davies MJ, Rowland E, Goodwin JF, Evans RC, Shaw DB. Sudden death in hypertrophic cardiomyopathy: associated accessory atrioventricular pathways. Br.Heart J 1980;43:245-251.

    21 Maron BJ, Roberts WC, Epstein SE. Sudden death in hypertrophic cardiomyopathy: a profile of 78 patients. Circulation 1982;65:1388-1394.

    22 Spirito P, Rapezzi C, Autore C, et al. Prognosis of asymptomatic patients with hypertrophic cardiomyopathy and nonsustained ventricular tachycardia [see comments]. Circulation 1994;90:2743-2747.

    23 Counihan PJ, Frenneaux MP, Webb DJ, McKenna WJ. Abnormal vascular responses to supine exercise in hypertrophic cardiomyopathy. Circulation 1991;84:686-696.

    24 Frenneaux MP, Counihan PJ, Caforio AL, Chikamori T, McKenna WJ. Abnormal blood pressure response during exercise in hypertrophic cardiomyopathy [see comments]. Circulation 1990; 82:1995-2002.

    25 Lele SS, Scalia G, Thomson H, et al. Mechanism of exercise hypotension in patients with ischemic heart disease. Role of neurocardiogenically mediated vasodilation. Circulation 1994;90:2701-2709.

    26 Dilsizian V, Bonow RO, Epstein SE, Fananapazir L. Myocardial ischemia detected by thallium scintigraphy is frequently related to cardiac arrest and syncope in young patients with hypertrophic cardiomyopathy [see comments]. J Am.Coll.Cardiol. 1993;22:796-804.

    27 Yamada M, Elliott PM, Kaski JC, et al. Dipyridamole stress thallium-201 perfusion abnormalities in patients with hypertrophic cardiomyopathy. Relationship to clinical presentation and outcome. Eur Heart J 1998;19:500-507.

    28 Yetman AT, McCrindle BW, MacDonald C, Freedom RM, Gow R. Myocardial bridging in children with hypertrophic cardiomyopathy--a risk factor for sudden death [see comments]. N.Engl.J Med. 1998;339:1201-1209.

    29 Atiga WL, Fananapazir L, McAreavey D, Calkins H, Berger RD. Temporal Repolarization Lability in Hypertrophic Cardiomyopathy Caused by beta-Myosin Heavy-Chain Gene Mutations. Circulation 2000.Mar.21.;101.(11.):1237.-1242.101:1237-1242.

    30 Fananapazir L, Chang AC, Epstein SE, McAreavey D. Prognostic determinants in hypertrophic cardiomyopathy. Prospective evaluation of a therapeutic strategy based on clinical, Holter, hemodynamic, and electrophysiological findings. Circulation 1992;86:730-740.

    31 Varnava AM, Elliott PM, Baboonian C, Davison F, Davies MJ, McKenna WJ. Hypertrophic Cardiomyopathy: Histopathological Features of Sudden Death in Cardiac Troponin T Disease. Circulation 2001;104:1380-1384.

    32 Blair E, Redwood C, Ashrafian H, et al. Mutations in the gamma(2) subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis. Hum.Mol.Genet.2001.May.15.;10.(11.):1215.-20.10:1215-1220.

    33 Gollob MH, Green MS, Tang AS, et al. Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. N.Engl.J Med.2001.Jun.14.;344.(24.):1823.-31.344:1823-1831.

    34 Wilson WR, Greer GE, Grubb BP. Implantable cardioverter-defibrillators in children: a single-institutional experience. Ann.Thorac.Surg. 1998;65:775-778.

    35 Ostman-Smith I, Wettrell G, Riesenfeld T. A cohort study of childhood hypertrophic cardiomyopathy: improved survival following high-dose beta-adrenoceptor antagonist treatment. J Am.Coll.Cardiol. 1999;34:1813-1822.

     

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