A Variant of Brugada Syndrome
A Variant of Brugada Syndrome
复制标题
布鲁格达综合征的一种变种
作者：
Maryna Popp Switzer;M. Teleb;E. Agunanne;A. Abbas
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。已经描述了导致这种疾病的多种基因突变。我们报告一位56岁的男性，在院外心脏骤停，经抢救后，发现其心电图具有典型的Brugada标准特征。基因检测结果为钠电压门控通道α亚基5（SCN 5A）基因杂合突变阳性，外显子6上存在p.Leu227Pro（L227P）变体。据我们所知，这是第一个描述的情况下，这种变异导致恶性心律失常与心脏骤停。
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 (SCN5A) 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.
影响因子：
24
作者：
Hu, Dan;Barajas-Martinez, Hector;Pfeiffer, Ryan;Dezi, Fabio;Pfeiffer, Jenna;Buch, Tapan;Betzenhauser, Matthew J.;Belardinelli, Luiz;Kahlig, Kristopher M.;Rajamani, Sridharan;DeAntonio, Harry J.;Myerburg, Robert J.;Ito, Hiroyuki;Deshmukh, Pramod;Marieb, Mark;Nam, Gi-Byoung;Bhatia, Atul;Hasdemir, Can;Haissaguerre, Michel;Veltmann, Christian;Schimpf, Rainer;Borggrefe, Martin;Viskin, Sami;Antzelevitch, Charles
通讯作者：
Antzelevitch, Charles
影响因子：
5.5
作者：
Kapplinger, Jamie D.;Tester, David J.;Alders, Marielle;Benito, Begona;Berthet, Myriam;Brugada, Josep;Brugada, Pedro;Fressart, Veronique;Guerchicoff, Alejandra;Harris-Kerr, Carole;Kamakura, Shiro;Kyndt, Florence;Koopmann, Tamara T.;Miyamoto, Yoshihiro;Pfeiffer, Ryan;Pollevick, Guido D.;Probst, Vincent;Zumhagen, Sven;Vatta, Matteo;Towbin, Jeffrey A.;Shimizu, Wataru;Schulze-Bahr, Eric;Antzelevitch, Charles;Salisbury, Benjamin A.;Guicheney, Pascale;Wilde, Arthur A. M.;Brugada, Ramon;Schott, Jean-Jacques;Ackerman, Michael J.
通讯作者：
Ackerman, Michael J.