Genetics of sudden cardiac death syndromes.
Genetics of sudden cardiac death syndromes.
复制标题
猝死综合征的遗传学。
DOI：
10.1097/hco.0b013e3283459893
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发表时间：
2011-05
影响因子：
2.3
通讯作者：
Knollmann BC
中科院分区：
文献类型：
--
作者：
Chopra N;Knollmann BC
综述遗传学领域的最新进展，包括发现新的候选基因，新的诊断策略和新的治疗心源性猝死综合征的方法。除了已知SCD基因的新突变外，还发现了一些以前未涉及SCD病因的新基因，特别是在长QT综合征（如KCNJ5、AKAP9、SNTA1）、特发性心室颤动（DPP6、KCNJ8）、扩张型心肌病（如NEBL）和肥厚性心肌病（如NEXN）中。遗传性SCD动物模型为几乎所有主要SCD综合征的细胞机制和发病机制提供了新的见解，这导致了一些新的药物治疗遗传性心律失常综合征患者（例如，儿茶酚胺能多态性室性心动过速）。此外，遗传因素对获得性心脏病的影响越来越被认识到。例如，21q21位点与心肌梗死后心室颤动密切相关。在这个位点附近是CXADR，一个编码病毒受体的基因，与心肌炎和扩张型心肌病有关。最后，心脏离子通道和蛋白质的常见变异可能导致常见的心脏表型。新的基因、机制和综合征的发现取得了重大进展，显著推进了遗传性SCD疾病的诊断和治疗。
To survey recent developments in the field of genetics encompassing discovery of new candidate genes, new diagnostic strategies and new therapies for sudden cardiac death (SCD) syndromes. In addition to new mutations in known SCD genes, several novel genes not previously implicated in SCD causation have been found, particularly in long QT syndrome (e.g., KCNJ5, AKAP9, SNTA1), idiopathic ventricular fibrillation (DPP6, KCNJ8), dilated cardiomyopathy (e.g., NEBL) and hypertrophic cardiomyopathy (e.g. NEXN). Genetic SCD animal models have provided novel insights in the cellular mechanism and pathogenesis of nearly all the major SCD syndromes, which has led to several new drug therapies for patients with genetic arrhythmia syndromes (e.g., flecainide in Catecholaminergic Polymorphic Ventricular Tachycardia). Furthermore, genetic contributions to acquired heart diseases are increasingly being recognized. For example, a 21q21 locus is strongly associated with ventricular fibrillation after myocardial infarction. Near this locus is CXADR, a gene encoding a viral receptor implicated in myocarditis and dilated cardiomyopathy. Finally, common variants in cardiac ion channels and proteins likely contribute to common cardiac phenotypes. Major strides have been made uncovering new genes, mechanisms and syndromes that have significantly advanced the diagnosis and treatment of genetic SCD disorders.