Genetics of congenital long QT syndrome and Brugada syndrome.
The inherited cardiac arrhythmias including congenital and acquired long QT syndrome (LQTS), Brugada syndrome, progressive cardiac conduction defect, catecholaminergic polymorphic ventricular tachycardia, arrhythmogenic right ventricular cardiomyopathy, familial atrial fibrillation, familial sick sinus syndrome and short QT syndrome, are linked to mutations in genes encoding for ion channels or other membrane components. Eleven forms of congenital LQTS have been identified and these are caused by mutations in genes of the potassium, sodium and calcium channels or membrane adapter. Genotype-phenotype correlations have been rigorously investigated, especially in the LQT1, LQT2 and LQT3 forms, which constitute more than 90% of genotyped patients. On the other hand, causative mutations were identified much less in patients with Brugada syndrome, therefore data on genotype-phenotype relationships are limited.
National Cardiovascular Center, Division of Cardiology, Department of Internal Medicine, 5-7-1 Fujishiro-dai, Suita, Osaka, 565-8565 Japan. wshimizu@hsp.ncvc.go.jp
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