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The Diagnostic Value of Copy Number Variants in Genetic Cardiomyopathies and Channelopathies

Valerio Caputo1,2, Virginia Veronica Visconti3, Enrica Marchionni4

  • 1Department of Life, Health and Environmental Sciences, University of L'Aquila, 67100 L'Aquila, Italy.

Journal of Cardiovascular Development and Disease
|July 25, 2025
PubMed

Insights

Sudden cardiac death is often genetic. This review explores copy number variants in cardiomyopathies, suggesting their inclusion in genetic testing to improve diagnosis for these heart muscle diseases.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Sudden cardiac death (SCD) has a significant genetic basis, primarily linked to cardiomyopathies and channelopathies.
  • Genetic variants, including single nucleotide and insertion/deletion types, contribute to heritable cardiomyopathies but present diagnostic challenges due to heterogeneity and incomplete penetrance.
  • Current genetic testing for cardiomyopathies yields diagnoses in only 28-40% of cases, highlighting the need for expanded investigation.

Purpose of the Study:

  • To review copy number variants (CNVs) identified in cardiomyopathies.
  • To evaluate the diagnostic yield of CNVs in cardiomyopathies.
  • To advocate for the integration of CNV analysis into routine genetic testing for cardiomyopathies and channelopathies.

Main Methods:

  • Literature review of studies reporting CNVs in cardiomyopathies.
  • Analysis of diagnostic yield associated with identified CNVs.
  • Discussion of next-generation sequencing technologies for CNV detection.

Main Results:

  • Structural variants, particularly CNVs, are increasingly recognized as important contributors to cardiomyopathies.
  • The inclusion of CNV analysis may significantly enhance the diagnostic yield of genetic testing for these conditions.
  • Advances in sequencing technology facilitate the detection of CNVs.

Conclusions:

  • Copy number variants represent a critical, often overlooked, component of the genetic architecture of cardiomyopathies.
  • Incorporating CNV analysis into standard genetic testing protocols is essential for improving diagnostic accuracy and patient management.
  • Further research and technological integration are necessary to fully leverage CNVs in understanding and diagnosing inherited heart conditions.

Keywords:
Brugada syndrome (BrS)arrhythmogenic cardiomyopathy (ACM)cardiomyopathies (CMPs)catecholaminergic polymorphic ventricular tachycardia (CPVT)channelopathies (CNPs)copy number variants (CNVs)dilated cardiomyopathy (DCM)genetic testinghypertrophic cardiomyopathy (HCM)long QT syndrome (LQTS)

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