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The role of genetics in cardiovascular disease: arrhythmogenic cardiomyopathy

Cynthia A James1, Petros Syrris2, J Peter van Tintelen3

  • 1Division of Cardiology, Department of Medicine, Johns Hopkins University, Carnegie 568D, 600 N. Wolfe St., Baltimore, MD 21287-0409, USA.

European Heart Journal
|March 20, 2020
PubMed

Insights

Arrhythmogenic cardiomyopathy (ACM) is an inherited heart condition. Genetic factors and environmental exposures like exercise contribute to disease risk, guiding better family care and genetic testing.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Arrhythmogenic cardiomyopathy (ACM) is a heritable heart muscle disease.
  • It leads to ventricular arrhythmias, dysfunction, and sudden cardiac death risk, especially in young individuals and athletes.

Purpose of the Study:

  • To review the genetic basis and molecular mechanisms of ACM.
  • To discuss a threshold model for ACM inheritance.
  • To outline genetics-informed clinical care strategies for ACM families.

Main Methods:

  • Literature review of current ACM research.
  • Analysis of genetic architecture and pathogenic mechanisms.
  • Discussion of clinical genetics integration and genotype utility.

Main Results:

  • ACM pathogenesis involves complex genetic factors and environmental influences.
  • A multifactorial threshold model explains disease expression.
  • Genotype information is crucial for ACM management and family screening.

Conclusions:

  • Understanding ACM genetics is key to improving patient care.
  • Genotype-guided management and predictive testing enhance family support.
  • Integrating genetic discoveries advances ACM research and clinical practice.

Keywords:
Arrhythmogenic right ventricular cardiomyopathyArrhythmogenic cardiomyopathyCardiovascular geneticsGenetic counselling

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