Smits J P P, Wilde Arthur A M
Academic Medical Center University of Amsterdam Department of Clinical and Experimental Cardiology, M-0-052 P.O. Box 22700 1100 DE Amsterdam, The Netherlands E-Mail:
Herzschrittmacherther Elektrophysiol. 2002 Sep;13(3):142-8. doi: 10.1007/s00399-002-0350-9.
The Brugada syndrome (BS) is an autosomal dominant inherited cardiac disease characterized by an electrocardiogram (ECG) with a varying degree of ST-segment elevation in the right precordial leads, and (non-)specific conduction disorders. Patients often present with (aborted) sudden cardiac death due to ventricular tachy-arrhythmias. In a minority of patients, mutations in the gene encoding the cardiac sodium channel (SCN5A) can be found. The Brugada syndrome is therefore considered to be an ion channel disease. Genetic heterogeneity has been demonstrated but other causally related genes await identification. A genotype-phenotype relationship in Brugada syndrome as in the long QT syndrome was until recently unknown. The first step towards the establishment of such a relationship seems to be the recent observation of more prevalent conduction abnormalities in patients with an SCN5A mutation. Further establishment of a genotype-phenotype relationship in Brugada syndrome may simplify genetic screening, increase our basic understanding of the pathophysiology of this disease and make a more accurate discussion of the disease possible. In this paper we discuss the possible phenotypical features which may be expected to be determined by differences in genotype in Brugada syndrome.
Brugada综合征（BS）是一种常染色体显性遗传性心脏病，其特征为心电图（ECG）表现为右胸前导联ST段抬高程度各异，以及（非）特异性传导障碍。患者常因室性快速心律失常而出现（未遂的）心源性猝死。少数患者可检测到编码心脏钠通道（SCN5A）的基因突变。因此，Brugada综合征被认为是一种离子通道疾病。虽然已经证实存在遗传异质性，但其他相关致病基因仍有待确定。直到最近，Brugada综合征的基因型-表型关系仍不为人知，就如同长QT综合征一样。建立这种关系的第一步似乎是最近观察到SCN5A基因突变患者中传导异常更为普遍。进一步确立Brugada综合征的基因型-表型关系可能会简化基因筛查，增进我们对该疾病病理生理学的基本认识，并使对该疾病进行更准确的讨论成为可能。在本文中，我们将讨论Brugada综合征中可能因基因型差异而预期出现的表型特征。
