Heather L Williams, Tara Mahar · 2025 · The American journal of forensic medicine and pathology · added 2026-04-24
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 no Show more
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. Show less