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Similar burden of rare genetic variants in ischemic and non-ischemic dilated cardiomyopathy

Louie Cao1, Joshua Rushakoff1, Ian Williamson1

  • 1Smidt Heart Institute, Cedars-Sinai Medical Center, Los Angeles, CA, United States.

Frontiers in Cardiovascular Medicine
|May 14, 2025
PubMed

Insights

Rare disease-causing variants were similarly prevalent in patients with ischemic and non-ischemic dilated cardiomyopathy undergoing heart transplant. Genetic testing may benefit patients with ischemic dilated cardiomyopathy requiring heart transplant.

Area of Science:

  • Cardiology
  • Genetics
  • Genomics

Background:

  • Dilated cardiomyopathy (DCM) is a significant cause of heart failure requiring heart transplantation.
  • Distinguishing between ischemic and non-ischemic etiologies of DCM is crucial for management.
  • The role of rare genetic variants in ischemic DCM is less understood compared to non-ischemic DCM.

Purpose of the Study:

  • To determine the prevalence of rare, disease-causing variants in cardiomyopathy-associated genes.
  • To compare variant prevalence between patients with ischemic DCM and non-ischemic DCM undergoing heart transplant.
  • To assess the potential utility of genetic testing in advanced ischemic heart failure.

Main Methods:

  • A single-center cohort study included 60 adult patients undergoing heart transplant for DCM (left ventricular ejection fraction ≤50%).
  • Patients were categorized into ischemic DCM (n=16) and non-ischemic DCM (n=44) groups.
  • Whole-exome sequencing was performed to identify rare (MAF <0.1%) pathogenic or likely pathogenic variants in cardiomyopathy-associated genes.

Main Results:

  • The prevalence of disease-causing variants was similar between ischemic DCM (19%) and non-ischemic DCM (23%) groups.
  • In ischemic DCM, variants were identified in TTN and DMD genes.
  • In non-ischemic DCM, variants were found in TTN, FLNC, LMNA, MYH7, and RBM20 genes.

Conclusions:

  • Patients with ischemic DCM undergoing heart transplant have a comparable burden of rare genetic variants to those with non-ischemic DCM.
  • Genetic testing may be beneficial for patients with advanced ischemic heart failure requiring heart transplant.
  • These findings highlight the genetic underpinnings of DCM regardless of etiology.
Abstract

Keywords:
dilated cardiomyopathygenetic testingheart transplantationischemic cardiomyopathyischemic dilated cardiomyopathy

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