JACC. Case reports · 2025
A Novel SCN5A Mutation (c.589G>A) Is Associated With Intermittent Atrial Standstill and Conduction System Disease.
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Kohli Utkarsh, Nayak Hemal M
Аннотация
BACKGROUND: SCN5A-associated conduction system disease, though well known, is poorly characterized.
CASE SUMMARY: We report a case of a 23-year-old young woman who is a heterozygous carrier of a novel SCN5A c.589G>A (p.Asp197Asn) sequence variation. Phenotypic features in this patient include conduction abnormalities characterized by right bundle branch block, left anterior fascicular block, and a prolonged PR interval at baseline along with symptomatic postexertional pauses and junctional rhythm, likely due to atrial standstill. Her father, who carries the same sequence variation, also has left anterior fascicular block and a prolonged PR interval. The electrocardiographic abnormalities seen in this patient have not progressed over a 7-year follow-up period.
DISCUSSION: The above-mentioned phenotypic effects of this novel SCN5A sequence variation have not been characterized before. We hypothesize that the mutation mechanistically acts by slowing down myocardial conduction velocity.
TAKE-HOME MESSAGE: A novel SCN5A c.589G>A (p.Asp197Asn) sequence variation is associated with conduction abnormalities and intermittent atrial standstill.
CASE SUMMARY: We report a case of a 23-year-old young woman who is a heterozygous carrier of a novel SCN5A c.589G>A (p.Asp197Asn) sequence variation. Phenotypic features in this patient include conduction abnormalities characterized by right bundle branch block, left anterior fascicular block, and a prolonged PR interval at baseline along with symptomatic postexertional pauses and junctional rhythm, likely due to atrial standstill. Her father, who carries the same sequence variation, also has left anterior fascicular block and a prolonged PR interval. The electrocardiographic abnormalities seen in this patient have not progressed over a 7-year follow-up period.
DISCUSSION: The above-mentioned phenotypic effects of this novel SCN5A sequence variation have not been characterized before. We hypothesize that the mutation mechanistically acts by slowing down myocardial conduction velocity.
TAKE-HOME MESSAGE: A novel SCN5A c.589G>A (p.Asp197Asn) sequence variation is associated with conduction abnormalities and intermittent atrial standstill.