KCNQ1 and GJA1 Variants Associated With Arrhythmogenic Right Ventricular Cardiomyopathy With a Lethal Outcome.

ABSTRACT:

Background

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is mainly caused by desmosomal variants. Nondesmosomal ARVC is rare.

Case summary

A 31-year-old athlete experienced sudden cardiac death. Autopsy revealed ARVC and syndactyly. Genetic testing identified a heterozygous pathogenic KCNQ1 variant associated with long QT syndrome, and a heterozygous likely pathogenic GJA1 variant encoding connexin-43, a gap junction protein. No relative had ARVC or prolonged QTc interval; however, GJA1-positive relatives had either syndactyly or a gait disorder; both of these pathologies are associated with GJA1.

Discussion

Connexin-43 is essential for desmosomal function; however, ARVC causation has not been established. Cascade genetic and clinical testing suggests that th

SUBMITTER: Tramer L 

PROVIDER: S-EPMC12540297 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature