Mutations in the <i>TCAP</i> gene may lead to restrictive phenotype hypertrophic cardiomyopathy with poor prognosis: case report.

ABSTRACT:

Background

Genetic disorders are a significant cause of cardiomyopathies. Mutations in the TCAP gene (OMIM #604488) encoding the Z-disc protein Telethonin associated with a mixed phenotype of hypertrophic and restrictive cardiomyopathy with poor prognosis have not yet been reported.

Case summary

A 47-year-old male presented with heart failure symptoms over a year, which had worsened in the past week. He has a familial history of cardiomyopathy, as his mother was diagnosed with restrictive cardiomyopathy (RCM). Transthoracic echocardiography and cardiac magnetic resonance imaging (CMR) revealed non-obstructive hypertrophic cardiomyopathy (HCM) with severe diastolic dysfunction, biatrial enlargement, preserved ejection fraction, and normal chamber size. Endomyocardial b

SUBMITTER: Hu Y 

PROVIDER: S-EPMC12053251 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature