Article Text

Hypertrophic cardiomyopathy: management, risk stratification, and prevention of sudden death
  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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  • Supported by the British Heart Foundation

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