Identification of novel genetic variants in hypertrophic cardiomyopathy

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.