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Genetics of dilated cardiomyopathy

Diane Fatkin1, Robyn Otway, Zara Richmond

  • 1Molecular Cardiology Division, Victor Chang Cardiac Research Institute, 405 Liverpool Street, Darlinghurst, NSW 2010, Australia. d.fatkin@victorchang.edu.au

Heart Failure Clinics
|March 30, 2010
PubMed

Insights

Dilated cardiomyopathy (DCM) is a heart muscle disease causing enlarged ventricles and poor pumping. This review covers genetic factors, clinical aspects, and management of familial DCM.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Dilated cardiomyopathy (DCM) is a myocardial disorder characterized by ventricular enlargement and impaired systolic function.
  • DCM leads to heart failure, arrhythmias, thromboembolism, and premature death, incurring substantial healthcare costs.
  • While acquired factors are common causes, inherited genetic variants play a significant role in DCM etiology.

Purpose of the Study:

  • To review current understanding of familial dilated cardiomyopathy.
  • To outline molecular pathogenesis, clinical presentation, natural history, and management strategies for familial DCM.

Main Methods:

  • Literature review of familial dilated cardiomyopathy.
  • Synthesis of current concepts in molecular pathogenesis.
  • Analysis of clinical presentation and natural history.
  • Review of management approaches for familial DCM.

Main Results:

  • Familial DCM is increasingly recognized as a significant etiological factor.
  • Genetic variants contribute to cardiomyocyte dysfunction and survival.
  • Understanding of familial DCM pathogenesis, presentation, and natural history is evolving.

Conclusions:

  • Familial DCM requires comprehensive understanding for effective management.
  • Further research into genetic underpinnings is crucial.
  • Integrated approaches to diagnosis and treatment are necessary.

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