Article
SCN5A Cardiomyopathy: from Ion Channel Dysfunction To Clinical Disease.
Current cardiology reports - 9 Oct 2025
Heymans Astrid B M, Bianchi Lorenzo, Volders Paul G A, van der Crabben Saskia N, Verdonschot Job A J
Abstract excerpt
PURPOSE OF REVIEW: Although SCN5A variants are an established cause of arrhythmia and conduction disease, their association with dilated cardiomyopathy (DCM) is less studied. This review summarizes recent insights into SCN5A-related cardiomyopathy, focusing on genotype-phenotype correlations, overlap with arrhythmia, and implications for management. RECENT FINDINGS: Both gain- and loss-of-function SCN5A variants...
Topics
- Humans
- Animals
- Mice
- NAV1.5 Voltage-Gated Sodium Channel
- Cardiomyopathies
- Ion Channels
- Gain of Function Mutation
- Loss of Function Mutation
- Phenotype
- Genetic Association Studies
- Arrhythmias, Cardiac