Myocardial ultrastructure can augment genetic testing for sporadic dilated cardiomyopathy with initial heart failure.

ABSTRACT:

Aims

The aim of the present study was to consider whether the ultrastructural features of cardiomyocytes in dilated cardiomyopathy can be used to guide genetic testing.

Methods and results

Endomyocardial biopsy and whole-exome sequencing were performed in 32 consecutive sporadic dilated cardiomyopathy patients [51.0 (40.0-64.0) years, 75% men] in initial phases of decompensated heart failure. The predicted pathogenicity of ultrarare (minor allele frequency ≤0.0005), non-synonymous variants was determined using the American College of Medical Genetics guidelines. Focusing on 75 cardiomyopathy-susceptibility and 41 arrhythmia-susceptibility genes, we identified 404 gene variants, of which 15 were considered pathogenic or likely pathogenic in 14 patients (44% of 32). There were

SUBMITTER: Saito T 

PROVIDER: S-EPMC8712817 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature