Switzer Maryna Popp, Teleb Mohamed, Agunanne Enoch, Abbas Aamer
Departments of Internal Medicine (Switzer, Teleb, Agunanne, Abbas) and Cardiology (Teleb, Agunanne, Abbas), Texas Tech University Health Sciences Center, El Paso, Texas.
Proc (Bayl Univ Med Cent). 2017 Jan;30(1):62-63. doi: 10.1080/08998280.2017.11929530.
Brugada syndrome is an inherited disorder that can present with syncope, cardiac arrest, or sudden cardiac death. Multiple genetic mutations have been described that cause this disease. We present a 56-year-old man who sustained an out-of-hospital cardiac arrest, was resuscitated, and was found to have typical features of the Brugada criteria on the electrocardiogram. Genetic testing was positive for a heterozygous mutation in the sodium voltage-gated channel alpha subunit 5 gene with a p. Leu227Pro (L227P) variant located on exon 6. To our knowledge, this is the first described case with this variant causing malignant arrhythmia with a cardiac arrest.
Brugada综合征是一种遗传性疾病，可表现为晕厥、心脏骤停或心源性猝死。已发现多种导致该疾病的基因突变。我们报告一名56岁男性，他在院外发生心脏骤停，经复苏后存活，心电图显示具有Brugada标准的典型特征。基因检测显示，钠电压门控通道α亚基5基因存在杂合突变，其位于第6外显子的p.Leu227Pro（L227P）变异呈阳性。据我们所知，这是首例报道的由该变异导致恶性心律失常并引发心脏骤停的病例。
