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BRIEF RESEARCH REPORT article
Front. Cardiovasc. Med.
Sec. Heart Failure and Transplantation
Volume 12 - 2025 | doi: 10.3389/fcvm.2025.1542653
Similar Burden of Rare Genetic Variants in Ischemic and Nonischemic Dilated Cardiomyopathy
Provisionally accepted
Louie Cao 1
Joshua Rushakoff 2 Ian Williamson 1,3
Anja Karlstaedt 1,3 Michelle Kittleson 1,3 Lawrence Czer 1,3
Evan Paul Kransdorf 1,3*- 1 Cedars Sinai Medical Center, Los Angeles, California, United States
- 2 Duke University Medical Center, Duke University, Durham, North Carolina, United States
- 3 Smidt Heart Institute, Cedars Sinai Medical Center, Los Angeles, United States
Background: To determine the prevalence of rare disease-causing variants in cardiomyopathyassociated genes in a cohort of patients with ischemic and nonischemic dilated cardiomyopathy undergoing heart transplant.We conducted a single-center cohort study of 60 adult patients with left ventricular ejection fraction ≤ 50% and left ventricular end-diastolic dimension ≥ 95 th percentile for sex/height who underwent heart transplant between January 2017 and December 2023 and consented to participate in a cardiac tissue biobank. We evaluated the prevalence of rare (minor allele frequency <0.1%) disease-causing (pathogenic or likely pathogenic by American College of Genetics and Genomics criteria) variants in cardiomyopathy-associated genes.Results: 60 subjects fulfilled the inclusion criteria: 16 with ischemic dilated cardiomyopathy (median [IQR] age 65 [64-68] years, 88% men) and 44 with nonischemic dilated cardiomyopathy (median [IQR] age 53 [39-65] years, 80% men). We found that the prevalence of diseasecausing variants was similar between patients with ischemic dilated cardiomyopathy (3/16 or 19%; 95% credible interval 6%-36%) and those with nonischemic dilated cardiomyopathy (10/44 or 23%; 95% credible interval 12%-33%). Variants in the ischemic dilated cardiomyopathy group were found in the TTN and DMD genes. Variants in the nonischemic dilated cardiomyopathy group were found in the TTN, FLNC, LMNA, MYH7, and RBM20 genes.Patients with ischemic dilated cardiomyopathy undergoing heart transplant possessed a similar burden of rare disease-causing variants as those with nonischemic dilated cardiomyopathy. Our results suggest that genetic testing may be beneficial in patients with
Keywords: ischemic cardiomyopathy, dilated cardiomyopathy, Heart Transplantation, Genetic Testing, Ischemic dilated cardiomyopathy
Received: 10 Dec 2024; Accepted: 03 Apr 2025.
Copyright: © 2025 Cao, Rushakoff, Williamson, Karlstaedt, Kittleson, Czer and Kransdorf. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence:
Evan Paul Kransdorf, Smidt Heart Institute, Cedars Sinai Medical Center, Los Angeles, United States
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