Identification of novel genetic variants in hypertrophic cardiomyopathy.

Document Type

Article

Publication Date

11-2025

Publication Title

Cardiology in the young

Abstract

Mutations in genes encoding sarcomeric proteins account for 50-60% of familial hypertrophic cardiomyopathy cases. However, the molecular pathogenesis in approximately one-third of patients remains unidentified. We describe the case of a 15-year-old female who presented with intermittent palpitations and had a significant paternal cardiovascular history. She was diagnosed with hypertrophic cardiomyopathy, confirmed by echocardiogram and cardiac MRI. Genetic testing revealed a variant of unknown significance in exon 7 of the FHL1 gene and exon 43 of the ANK2 gene.

Volume

35

Issue

11

First Page

2389

Last Page

2392

DOI

10.1017/S1047951125109931

ISSN

1467-1107

PubMed ID

41111317

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