遗传性心律失常心肌病:2007研究进展与专家共识

Inherited Arrhythmias Cardiomyopathies:2007 Advancement and Workshop Consensus

心脏电疾病的分类极端复杂,许多方面甚至相互矛盾。AHA在致心律失常心肌病的分类法中,建议把离子通道病合并到原发性心肌病中。2007年11月,美国国立心肺与血管研究所和罕见疾病办公室在Circulation杂志发表了关于由基因突变影响离子通道功能所致原发性心肌病的诊断、表型、分子机制和治疗手段的专家共识报告,针对这组日益复杂化的原发性心脏膜通道疾病提出了一个重要框架。现就其中的重点与新进展做一综述。内容包括:(1)Na+通道病;(2)K+通道突变引起的心律失常;(3)由于其它遗传性致心律失常机制引起的心律失常;(4)未来诊断和治疗的建议。

Classifications of electric heart diseases have proved to be exceedingly complex and in many respects contradictory. So it incorporates ion channelopathies as a primary cardiomyopathy in a recent American Heart Association Scientific Statement. In Nov. of 2007, the US National Heart, Lung, and Blood Institute and Office of Rare Diseases of NIH published a workshop consensus report about the diagnosis, phenotyping, molecular mechanisms, and therapeutic approaches for primary cardiomyopathies of gene mutations affecting ion channel function on Circulation. The report provides an important framework and overview to this increasingly heterogeneous group of primary cardiac membrane channel diseases. Present article reviews the key points and new advancements in this field including： （ 1 ） Na^＋ ehannelopathies ; （2） arrhythmias due to K^＋ channel mutations ; （ 3 ） arrhythmias due to other inherited arrhythmogenic mechanisms ; （4） recommendations to improve future diagnosis and management.