Diagnostic yield and predictive value on left ventricular remodelling of genetic testing in dilated cardiomyopathy.

ABSTRACT:

Aims

We assessed the diagnostic yield of genetic testing and the relationship of left ventricular (LV) reverse remodelling (LVRR) with the presence of DNA pathogenic (P) or likely pathogenic (LP) variants in patients with dilated cardiomyopathy (DCM).

Methods and results

From 680 outpatients followed at the Heart Failure Outpatient Clinic of our institution, we selected subjects with a diagnosis of DCM as defined by LV ejection fraction (LVEF) ≤40% and LV dilatation not explained by coronary artery disease or other causes. All patients were offered genetic investigation of 42 disease-associated DCM genes with next-generation sequencing. Seventy patients fulfilled the definition of DCM and 66 underwent genetic investigation. We identified 18 P/LP variants in 16 patients, with

SUBMITTER: Bertero E 

PROVIDER: S-EPMC10375121 | biostudies-literature | 2023 Aug

REPOSITORIES: biostudies-literature