Clinical Review

Inherited cardiomyopathies

BMJ 2011; 343 doi: http://dx.doi.org/10.1136/bmj.d6966 (Published 21 November 2011) Cite this as: BMJ 2011;343:d6966
  1. Hariharan Raju, cardiology fellow1,
  2. Corinna Alberg, project manager2,
  3. Gurdeep S Sagoo, epidemiologist2,
  4. Hilary Burton, director2,
  5. Elijah R Behr, senior lecturer and honorary consultant cardiologist1
  1. 1Cardiac and Vascular Division, St George’s University of London, London SW17 0RE, UK
  2. 2PHG Foundation, Cambridge, UK
  1. Correspondence to: E R Behr ebehr{at}sgul.ac.uk
  • Accepted 11 October 2011

Summary points

  • Primary care doctors play a key role in identifying those at risk of inherited cardiomyopathy

  • People who present with symptoms of heart disease, relatives of an affected person, those with a family history of premature sudden death, and those with incidental electrocardiographic abnormalities are at risk of cardiomyopathy

  • Most cardiomyopathies are inherited in an autosomal dominant manner

  • Disease severity varies owing to variable penetrance

  • Specialists should evaluate suspected cases, and pathways to specialist care should be tailored to local healthcare systems

  • Mutation analysis allows accurate identification of carriers, but diagnosis and risk prediction still rely on clinical markers

Inherited cardiac conditions include primary electrical, myocardial, and structural heart diseases, in addition to vascular conditions. The presentation, diagnosis, and management of the different categories of inherited cardiac disease vary greatly. In this review we focus on inherited heart muscle disorders, known as cardiomyopathies. Collectively, they affect about one in 390 people (table).1 However, the true prevalence of each condition is difficult to determine because evidence of disease may be subtle in asymptomatic patients.2 3 4

Sources and selection criteria

We reviewed the literature using OMIM (online mendelian inheritance in man, a database of human genes and genetic disorders); Gene Reviews; and National Institutes of Health PubMed searches using key words “hypertrophic cardiomyopathy”, “dilated cardiomyopathy”, “arrhythmogenic right ventricular cardiomyopathy”, and “sudden cardiac death”. This was supplemented with references from the authors’ personal archives.

View this table:

Reported prevalence of inherited cardiomyopathies1

Cardiomyopathies can lead to sudden death as a result of fatal ventricular arrhythmias.5 Disease of the heart muscle may also progress with age and lead to heart failure.2 6 Early diagnosis and modification of risk factors for premature death may prevent such outcomes and are important. The diagnostic process has improved in recent years, with advances in clinical cardiological evaluation,2 …

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