Key result
ALPK3 mutation linked to SCD in a young asymptomatic patient with tumor-like HCM.
Case Report (n=1)
ALPK3 mutations can cause sudden cardiac death in young, asymptomatic patients without dysmorphia and may present with gross pathology mimicking a primary cardiac tumor.
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May prompt ALPK3 evaluation in atypical young SCD; single case leaves open distinct tumor-mimicking phenotype.
Sudden cardiac death (SCD) is a known risk of hypertrophic cardiomyopathy (HCM), especially in asymptomatic and younger (<35 years old) populations. There are several mutations that cause HCM, most notably within the MYBPC3 and MYH7 genes. ALPK3 (alpha protein kinase 3) has been identified as a gene of interest in HCM, specifically associated with late-onset adult HCM or pediatric cases which typically present with musculoskeletal and facial deformities. In this report, we present a case of SCD due to HCM in a young, reportedly asymptomatic patient without dysmorphia that had a specific mutation of the ALPK3 gene and a striking gross pathological appearance previously undiscussed in literature.
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Williams et al. (2025) conducted a case report in Hypertrophic Cardiomyopathy (n=1). A young, asymptomatic patient without dysmorphia experienced sudden cardiac death due to hypertrophic cardiomyopathy associated with an ALPK3 gene mutation and a tumor-like pathological appearance.
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