Genetic and Metabolic MedicineTier 1Topic overview

Inherited cardiac diseases

Framing

  • Inherited cardiac diseases span structural (hypertrophic cardiomyopathy) and primary electrical (long QT syndrome, Brugada syndrome) disorders, unified by a genetic basis and an associated risk of sudden cardiac death - making family screening and risk stratification (rather than treatment of symptoms alone) central to management across this group
  • Identification of an affected individual should prompt cascade family screening, given the autosomal dominant inheritance pattern typical of most of these conditions and the potential to identify and protect at-risk relatives before a sentinel event occurs

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