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评估心搏骤停的遗传原因。

Assessment of genetic causes of cardiac arrest.

机构信息

Division of Cardiology, University of British Columbia, Vancouver, British Columbia, Canada.

出版信息

Can J Cardiol. 2013 Jan;29(1):100-10. doi: 10.1016/j.cjca.2012.07.002. Epub 2012 Nov 27.

Abstract

Unexplained cardiac arrest is defined as a cardiac arrest in the absence of coronary artery disease and overt structural heart disease, present in 5%-10% of cardiac arrest survivors. A genetic contribution to cardiac arrest is more common in this population, most commonly attributed to an inherited ion channel abnormality leading to familial syncope and sudden death. The common causes are Long QT and Brugada syndrome, catecholaminergic ventricular tachycardia, idiopathic ventricular fibrillation, and early repolarization syndrome. Latent structural causes include inherited cardiomyopathy such as arrhythmogenic right ventricular cardiomyopathy. We review these causes in detail and a structured approach to the investigation of these patients, which provides a diagnosis in approximately half of these patients. This allows for the initiation of disease-specific treatments and enables family screening.

摘要

不明原因的心脏骤停定义为在没有冠状动脉疾病和明显结构性心脏病的情况下发生的心脏骤停,占心脏骤停幸存者的 5%-10%。在这部分人群中,心脏骤停与遗传因素的相关性更高,最常见的是遗传性离子通道异常导致家族性晕厥和猝死。常见病因包括长 QT 综合征和 Brugada 综合征、儿茶酚胺能性室性心动过速、特发性室颤和早期复极综合征。潜在的结构性病因包括遗传性心肌病,如致心律失常性右心室心肌病。我们详细回顾这些病因,并对这些患者进行了系统的检查方法,约半数患者可明确诊断。这可以进行针对特定疾病的治疗,并进行家族筛查。

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