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Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review

Caterina Micolonghi1, Federica Perrone1,2, Marco Fabiani1,3

  • 1Department of Experimental Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00161 Rome, Italy.

International Journal of Molecular Sciences
|September 28, 2024
PubMed

Insights

This review explores minor genes in hereditary cardiomyopathies (CMPs), such as arrhythmogenic cardiomyopathy (ACM), dilated cardiomyopathy (DCM), and hypertrophic cardiomyopathy (HCM). Understanding these genetic factors improves diagnostic accuracy and treatment for heart conditions.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genomic Medicine

Background:

  • Hereditary cardiomyopathies (CMPs), including arrhythmogenic cardiomyopathy (ACM), dilated cardiomyopathy (DCM), and hypertrophic cardiomyopathy (HCM), are significant causes of cardiovascular morbidity and mortality.
  • Genetic factors are primary drivers of CMPs, with next-generation sequencing (NGS) identifying numerous causative variants.
  • While core genes are routinely screened, the role of minor genes in CMPs remains less understood.

Purpose of the Study:

  • To review current evidence on the involvement of minor genes in the pathogenesis and prognosis of hereditary cardiomyopathies.
  • To provide a comprehensive overview of the genetic landscape of minor genes implicated in CMPs.
  • To offer guidance for clinical practice and future research directions.

Main Methods:

  • Comprehensive literature review of recent studies on hereditary cardiomyopathies.
  • Analysis of genetic databases (ClinGen, ClinVar) and resources (GeneReviews).
  • Evaluation of diagnostic guidelines and clinical referral data.

Main Results:

  • Minor genes, though less characterized, harbor variants that may contribute to CMP mechanisms and influence patient outcomes.
  • An increasing body of evidence supports the clinical significance of variants in these less-studied genes.
  • Individual assessment based on clinical context is crucial for interpreting the pathogenicity of minor gene variants.

Conclusions:

  • Further research is essential to elucidate the precise roles of minor genes in hereditary cardiomyopathies.
  • Enhanced understanding of these genetic factors will improve diagnostic precision.
  • Future studies will facilitate the development of targeted therapeutic strategies for CMP patients.

Keywords:
ACMARVCDCMHCMcardiomyopathiesgenetics

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