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Inherited cardiomyopathies: molecular genetics and clinical genetic testing in the postgenomic era

Polakit Teekakirikul1, Melissa A Kelly, Heidi L Rehm

  • 1Department of Genetics, Harvard Medical School, Boston, Massachusetts, USA.

The Journal of Molecular Diagnostics : JMD
|January 1, 2013
PubMed

Insights

Inherited cardiomyopathies are genetic heart muscle diseases. Genetic testing advances, like next-generation sequencing, improve diagnosis but challenges remain in variant interpretation.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Inherited cardiomyopathies encompass a group of genetic heart muscle diseases including hypertrophic, dilated, arrhythmogenic right ventricular, left ventricular noncompaction, and restrictive types.
  • These conditions carry a significant genetic basis and are a major cause of sudden cardiac death, necessitating genetic identification of pathogenic variants.

Purpose of the Study:

  • To provide an overview of inherited cardiomyopathies, focusing on their genetic underpinnings.
  • To discuss the advancements and challenges in genetic diagnostic testing for these conditions in the postgenomic era.

Main Methods:

  • Review of current literature on inherited cardiomyopathies, genetic etiology, and diagnostic technologies.
  • Focus on the impact of next-generation sequencing on clinical genetic testing.

Main Results:

  • Clinical genetic testing is crucial for identifying at-risk individuals but faces challenges like locus heterogeneity, allelic heterogeneity, variable penetrance, and phenotypic overlap.
  • Next-generation sequencing has made comprehensive genetic testing feasible, significantly shortening diagnostic timelines for complex cases.

Conclusions:

  • Despite advancements, interpreting genetic variants in cardiomyopathy genes remains a challenge, leading to inconclusive results.
  • Genetic testing, particularly with next-generation sequencing, is transforming the diagnosis and management of inherited cardiomyopathies.

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