Thierfelder L
Max-Delbrück-Centrum für Molekulare Medizin (MDC), Berlin.
Z Kardiol. 2000;89 Suppl 3:1-5.
Cardiac arrhythmias are common causes of morbidity and mortality in clinical medicine. Much has been learned about cellular mechanisms of arrhythmogenesis in the past but genetic components have only recently been recognized for some heritable forms of arrhythmias. The long QT syndrome and the Brugada syndrome are both caused by molecular defects in ion channel proteins. Cardiac arrhythmias can also be associated with structural heart diseases. For example, sinus node dysfunction or AV-block can precede some forms of inherited dilated cardiomyopathy. A distinct genetic form of hypertrophic cardiomyopathy is associated with the Wolff-Parkinson-White syndrome and maps to chromosome 7q35. Arrhythmogenic right ventricular cardiomyopathy has a strong genetic basis and often manifests with ventricular tachycardia. Atrial fibrillation can also occur as familial disease and may be allelic with dilated cardiomyopathy as both diseases can be closely linked to chromosome 10q2.
心律失常是临床医学中发病和死亡的常见原因。过去人们对心律失常发生的细胞机制已有很多了解，但直到最近，一些遗传性心律失常的遗传成分才被认识到。长QT综合征和Brugada综合征均由离子通道蛋白的分子缺陷引起。心律失常也可能与结构性心脏病有关。例如，某些形式的遗传性扩张型心肌病之前可能出现窦房结功能障碍或房室传导阻滞。一种独特的遗传性肥厚型心肌病与预激综合征相关，并定位于染色体7q35。致心律失常性右室心肌病有很强的遗传基础，常表现为室性心动过速。心房颤动也可作为家族性疾病发生，并且可能与扩张型心肌病等位，因为这两种疾病都可能与染色体10q2密切相关。
