Brugada Ramon, Brugada Pedro, Brugada Josep
Montreal Heart Institute, Montreal, Canada QC H1T 1C8.
J Electrocardiol. 2006 Oct;39(4 Suppl):S115-8. doi: 10.1016/j.jelectrocard.2006.05.014. Epub 2006 Aug 28.
Brugada syndrome is characterized by the presence of an electrocardiographic pattern of ST-segment elevation in leads V1 to V3 and a history of sudden cardiac death in the absence of structural heart disease [Brugada P, Brugada J. Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report. J Am Coll Cardiol 1992;20(6):1391]. The disease usually affects individuals in their 40s, at the prime of their life, and the appearance of cardiac arrest in these otherwise healthy individuals brings an important burden to families and to health care. Brugada syndrome is in several instances a familial disease, caused by mutations in SCN5A in up to 25% of the individuals [Chen Q, Kirsch GE, Zhang D, Brugada R, Brugada J, Brugada P, et al. Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature 1998;392(6673):293]. The identification of the electrocardiographic pattern in an individual will therefore trigger an important cascade of events in the families. Several family members, including children, will be under the scrutiny of a cardiologist to decide on preventive measures, especially if there is a history of sudden death in the family. The presence of abnormal repolarization patterns, which in otherwise sporadic individuals might be classified under normal variations, have become a diagnostic challenge for clinicians facing a family with the disease [Hong K, Brugada J, Oliva A, Berruezo-Sanchez A, Potenza D, Pollevick GD, et al. Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations. Circulation 2004;110(19):3023].
Brugada综合征的特征是V1至V3导联出现ST段抬高的心电图模式，且在无结构性心脏病的情况下有心脏性猝死病史[Brugada P, Brugada J. 右束支传导阻滞、持续性ST段抬高与心脏性猝死：一种独特的临床和心电图综合征。多中心报告。《美国心脏病学会杂志》1992年；20(6):1391]。该疾病通常影响40多岁处于人生黄金时期的个体，这些原本健康的个体发生心脏骤停给家庭和医疗保健带来了沉重负担。在多种情况下，Brugada综合征是一种家族性疾病，高达25%的个体由SCN5A基因突变引起[Chen Q, Kirsch GE, Zhang D, Brugada R, Brugada J, Brugada P, 等。特发性心室颤动的遗传基础和分子机制。《自然》1998年；392(6673):293]。因此，个体心电图模式的识别将在家族中引发一系列重要事件。包括儿童在内的几名家庭成员将接受心脏病专家的仔细检查，以决定预防措施，尤其是在家族中有猝死病史的情况下。异常复极模式的存在，在其他散发性个体中可能被归类为正常变异，这已成为面对患有该疾病家族的临床医生的诊断挑战[Hong K, Brugada J, Oliva A, Berruezo-Sanchez A, Potenza D, Pollevick GD, 等。心电图参数和阿义马林试验在诊断由SCN5A基因突变引起的Brugada综合征中的价值。《循环》2004年；110(19):3023]。
