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Genetic polymorphisms in dilated cardiomyopathy

Johann Daniel Stambader1, Livia Dorn, Gregor Mikuz

  • 1Institute of Pathology, Medical University of Innsbruck, Muellerstrasse 44, A-6020 Innsbruck, Austria.

Frontiers in Bioscience (Scholar Edition)
|December 29, 2009
PubMed

Insights

Dilated cardiomyopathies (DCM) involve heart dilation and pump issues. This review systematically analyzed 60 genes and 97 studies to understand the role of genetic polymorphisms in DCM.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Dilated cardiomyopathies (DCM) are a significant cause of heart failure, characterized by cardiac dilation and impaired pump function.
  • The etiology and pathogenesis of DCM are multifactorial and often remain unidentified, despite a known incidence of 6/100,000 annually.
  • Recent research highlights the role of altered gene products, particularly cytoskeletal proteins, and genes influencing clinical course in DCM.

Purpose of the Study:

  • To systematically review and analyze the role of genetic polymorphisms in the development and progression of Dilated Cardiomyopathies.
  • To consolidate findings from peer-reviewed literature on genes associated with DCM.

Main Methods:

  • Systematic review of peer-reviewed articles published in scientific journals.
  • Analysis focused on genetic polymorphisms related to Dilated Cardiomyopathies.
  • Inclusion of 97 original studies and examination of 60 selected genes implicated in DCM.

Main Results:

  • Identified specific gene alterations, including those coding for cytoskeletal proteins, as causative factors in DCM.
  • Highlighted genes activated post-disease onset that can modulate the clinical trajectory of DCM.
  • Synthesized evidence from a large body of research on genetic polymorphisms and DCM.

Conclusions:

  • Genetic polymorphisms play a significant role in the etiology and pathogenesis of Dilated Cardiomyopathies.
  • Further research into specific genes and their variants is crucial for understanding DCM.
  • This systematic review provides a comprehensive overview of current genetic knowledge regarding DCM.

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