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Genetic bases of dilated cardiomyopathy

Marco Araco1, Marco Merlo, Gerald Carr-White

  • 1aDepartment of Cardiology, Guys and St Thomas NHS Trust, London, United Kingdom bDivision of Cardiology, Cardiovascular Department, Ospedali Riuniti and University of Trieste, Trieste, Italy.

Journal of Cardiovascular Medicine (Hagerstown, Md.)
|September 24, 2016
PubMed

Insights

Dilated cardiomyopathy (DCM) is the most common heart muscle disease, often caused by genetic mutations. This review explores the diverse genes and cellular pathways involved in DCM

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Cardiomyopathies are diverse heart muscle diseases with a known genetic basis.
  • Dilated cardiomyopathy (DCM) is the most prevalent form, marked by ventricular dilation and impaired systolic function.

Purpose of the Study:

  • To review major genes implicated in DCM.
  • To focus on the pathophysiologic mechanisms underlying DCM.
  • To highlight recent discoveries in DCM research.

Main Methods:

  • Literature review of genetic mutations in DCM.
  • Analysis of cellular pathways involved in DCM pathogenesis.
  • Synthesis of recent scientific findings on DCM.

Main Results:

  • Over 40 genes associated with DCM have been identified.
  • Mutations affect proteins in various cellular structures and pathways.
  • Diverse pathophysiologic mechanisms contribute to DCM development.

Conclusions:

  • Genetic factors play a crucial role in DCM.
  • Understanding affected pathways is key to DCM pathogenesis.
  • Ongoing research continues to uncover new insights into DCM.

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