Key result
Genetic testing in an adolescent with HCM reveals FHL1 and ANK2 variants of unknown significance.
Why the study?
The molecular pathogenesis of hypertrophic cardiomyopathy remains unidentified in approximately one-third of patients, despite mutations in sarcomeric protein genes accounting for 50-60% of familial cases.
Case Report (n=1)
Identified novel variants of unknown significance in the FHL1 and ANK2 genes in a pediatric patient with 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.
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Yeo et al. (2025) conducted a case report in Hypertrophic cardiomyopathy (n=1). Genetic testing was evaluated on Identification of genetic variants. Genetic testing in a 15-year-old female with hypertrophic cardiomyopathy revealed variants of unknown significance in exon 7 of the FHL1 gene and exon 43 of the ANK2 gene.
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