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Patients with hypertrophic cardiomyopathy (HCM) harboring pathogenic or likely pathogenic MYBPC3 variants were evaluated for incident atrial fibrillation in the Sarcomeric Human Cardiomyopathy Registry. Among 1 040 adult HCM patients without baseline AF, 659 carried MYBPC3 variants and were followed for a mean of 7.2 years. Overall, 19% developed new‐onset AF; compared to MYH7 variant carriers, MYBPC3 carriers exhibited a lower adjusted risk (hazard ratio A (p.Glu258Lys) are established drivers of HCM, their direct contribution to AF susceptibility is not fully elucidated.
Current evidence is limited to a single large cohort study without independent replication or segregation of AF within families. Functional assays of cMyBP-C have elucidated HCM mechanisms but have not directly addressed atrial electrophysiology or arrhythmic risk. Further studies integrating genotype–phenotype correlations, family segregation, and atrial‐specific functional assessments are required to clarify the clinical utility of MYBPC3 genotyping for AF risk stratification.
Gene–Disease AssociationLimited659 MYBPC3 variant carriers followed for incident AF over 7.2 years with 19% event rate ([PMID:30354366]); no replication or segregation data Genetic EvidenceLimitedSingle cohort of HCM patients with MYBPC3 variants; no familial segregation of AF Functional EvidenceLimitedExisting functional studies address HCM mechanisms but lack atrial‐specific electrophysiologic data |