一种新型SCN5A突变（c.589G>A）与间歇性心房停搏和传导系统疾病相关。
A Novel SCN5A Mutation (c.589G>A) Is Associated With Intermittent Atrial Standstill and Conduction System Disease.
作者信息
Kohli Utkarsh, Nayak Hemal M
机构信息
Division of Pediatric Cardiology, Department of Pediatrics, West Virginia University School of Medicine and West Virginia University Children's Heart Center, Morgantown, West Virginia, USA.
Division of Cardiology, University of Texas Health, San Antonio, Texas, USA.
出版信息
JACC Case Rep. 2025 May 28;30(12):103509. doi: 10.1016/j.jaccas.2025.103509.
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.
背景
SCN5A相关的传导系统疾病虽广为人知，但特征描述不足。
病例摘要
我们报告一例23岁年轻女性病例，她是新型SCN5A基因c.589G>A（p.Asp197Asn）序列变异的杂合携带者。该患者的表型特征包括传导异常，表现为右束支传导阻滞、左前分支传导阻滞，基线时PR间期延长，以及运动后有症状性停搏和交界性心律，可能是由于心房停搏所致。她的父亲携带相同的序列变异，也有左前分支传导阻滞和PR间期延长。该患者的心电图异常在7年的随访期内未进展。
讨论
这种新型SCN5A序列变异的上述表型效应以前尚未有过特征描述。我们推测该突变通过减慢心肌传导速度发挥作用。
要点
新型SCN5A基因c.589G>A（p.Asp197Asn）序列变异与传导异常和间歇性心房停搏有关。
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