Porretta Alessandra Pia, Davoine Emeline, Superti-Furga Andrea, Bhuiyan Zahurul Alam, Domenichini Giulia, Herrera Siklody Claudia, Pascale Patrizio, Haddad Christelle, Schläpfer Jürg, Pruvot Étienne
Service de cardiologie, Département cœur-vaisseaux, CHUV, 1011 Lausanne.
Université de Pavie, 27100 Pavie, Italie.
Rev Med Suisse. 2020 Jun 3;16(696):1148-1152.
The gene SCN5A encodes the cardiac sodium channel which, through the conduction of Na+ current into the cell, generates the fast upstroke of the action potential of cardiomyocytes. Pathogenic variants of SCN5A have been causally associated to several hereditary cardiac diseases including, among others, Brugada syndrome, congenital long QT syndrome and sinus node dysfunction. Recently, overlap syndromes have been described that are characterized by the simultaneous expression of mixed clinical phenotypes among two or more hereditary cardiac diseases associated to the gene SCN5A (HCD-SCN5A). For this reason, it is time to rethink about HCD-SCN5A as different expressions of the same complex spectrum encompassing multiple clinical phenotypes with pronounced overlaps instead of as distinct clinical entities.
基因SCN5A编码心脏钠通道,该通道通过将Na+电流传导到细胞中,产生心肌细胞动作电位的快速上升支。SCN5A的致病变异已被证实与多种遗传性心脏病有因果关系,其中包括Brugada综合征、先天性长QT综合征和窦房结功能障碍等。最近,有人描述了重叠综合征,其特征是在与基因SCN5A相关的两种或更多种遗传性心脏病(HCD-SCN5A)中同时出现混合临床表型。因此,现在是时候将HCD-SCN5A重新视为同一复杂谱系的不同表现形式,该谱系包含多个有明显重叠的临床表型,而不是不同的临床实体。