Korean J Transplant.  2023 Nov;37(Suppl 1):S250. 10.4285/ATW2023.F-8408.

Genetic screening of associated cardiac disease in a single center heart transplant cohort

• Lee SY
• Lim JH

• KMID: 2551879
• DOI: http://doi.org/10.4285/ATW2023.F-8408

Abstract

Background
This study aimed to characterize the genetic basis of heart failure in a single-center cohort of cardiac transplanted patients regardless of underlying etiology.
Methods
This retrospective study included a total of 126 adult patients who received heart transplantation in a single tertiary center from June 2014 to June 2023. The method of genetic screening was next-generation sequencing or whole exome sequencing. From November 2021, all the recipients underwent genetic screening regardless of underlying etiology, including ischemia and valvular heart disease. American College of Medical Genetics and Genomics (ACMG) criteria was used for classification of mutation.
Results
Total 71 genetic screening were done among 126 patients (56.3%). After refining the classification, we identified a pathogenic or likely pathogenic variant (PV/LPV) in 24 patients (33.8% of the tested and 19% of total cohort). Twenty-eight cases were classified as variant of unknown significance (VUS). In reference to the cause of cardiac failure in the 24 carriers of pathogenic variants, 15 were of dilated cardiomyopathy (DCM), 7 hypertrophic (HCM) and 1 restrictive cardiomyopathy. Even in the ischemic cases (n=19), 1 PV and 10 VUS were noted.
Conclusions
The genetic screening of a cardiac transplanted cohort identified a definite or very likely genetic cause in approximately 19% of recipients. Mutations detected in etiology other than the well-known genetic cardiomyopathy, such as DCM or HCM, could suggest possible genetic susceptibility to acquired cardiac diseases.