Diagnostic yield of genetic testing in a multinational heterogeneous cohort of 2088 DCM patients.

ABSTRACT:

Background

Familial dilated cardiomyopathy (DCM) causes heart failure and may lead to heart transplantation. DCM is typically a monogenic disorder with autosomal dominant inheritance. Currently disease-causing variants have been reported in over 60 genes that encode proteins in sarcomeres, nuclear lamina, desmosomes, cytoskeleton, and mitochondria. Over half of the patients undergoing comprehensive genetic testing are left without a molecular diagnosis even when patient selection follows strict DCM criteria.

Methods and results

This study was a retrospective review of patients referred for genetic testing at Blueprint Genetics due to suspected inherited DCM. Next generation sequencing panels included 23-316 genes associated with cardiomyopathies and other monogenic cardiac d

SUBMITTER: Helio K 

PROVIDER: S-EPMC10546047 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature