Denjoy Isabelle, Extramiana Fabrice, Lupoglazoff Jean-Marc, Leenhardt Antoine
Service de cardiologie, Hôpital Lariboisière, Paris.
Presse Med. 2007 Jul-Aug;36(7-8):1109-16. doi: 10.1016/j.lpm.2007.03.019. Epub 2007 Apr 18.
Brugada syndrome is characterized clinically by the onset of syncopes or sudden death related to ventricular tachyarrhythmias in patients with a structurally normal heart. Its electrocardiographic features include right bundle branch bloc and ST-segment elevations in the precordial leads V1-V3. The estimated prevalence is 1 per 1000 in Asian countries and probably lower elsewhere: Asia is probably a birthplace of the syndrome. Its transmission is autosomal dominant with variable penetrance. Mutations have been identified in a gene coding for the alpha subunit of the sodium channel (SCN5A) in only 25% of cases. These genetic abnormalities cause a reduction of the density of the sodium current and explain the aggravation of electrocardiographic abnormalities caused by antiarrhythmic sodium channel blockers. Prognosis is very serious in symptomatic patients: prevention of sudden death requires implantation of an automatic defibrillator. The treatment decision is much more difficult for asymptomatic subjects with no family history.
Brugada综合征在临床上的特征是,心脏结构正常的患者出现与室性快速心律失常相关的晕厥或猝死。其心电图特征包括右束支传导阻滞以及胸前导联V1-V3的ST段抬高。在亚洲国家,其估计患病率为千分之一,在其他地区可能更低:亚洲可能是该综合征的发源地。其遗传方式为常染色体显性遗传,外显率可变。仅在25%的病例中,已在编码钠通道α亚基(SCN5A)的基因中发现突变。这些基因异常导致钠电流密度降低,并解释了抗心律失常钠通道阻滞剂所引起的心电图异常加重的原因。有症状患者的预后非常严重:预防猝死需要植入自动除颤器。对于无家族史的无症状患者,治疗决策要困难得多。