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猝死之后仍存活:一例纳克索斯病病例报告

Living after sudden death: A case report of Naxos disease.

作者信息

Noain Jose Alberto Garcia, Golet Amparo Cantin, Calzada Jorge Navarro, Mellado Ascension Muñoz, Duarte Julian Mozota

机构信息

Emergency Department, University Clinic Hospital "Lozano Blesa", Spain.

出版信息

Indian J Crit Care Med. 2012 Oct;16(4):207-9. doi: 10.4103/0972-5229.106503.

Abstract

Naxos disease is a recessive inherited condition with arrhythmogenic right ventricular dysplasia (ARVD) and a peculiar cutaneous phenotype (woolly hair and a palmoplantar keratoderma). Woolly hair appears from birth, palmoplantar keratoderma develops during childhood and cardiomyopathy is clinically manifested by adolescence. Patients present with syncope, sustained ventricular tachycardia or sudden death. We report a case of a 14 year old boy from Spain, who was admitted into our emergency room after being resuscitated from cardiac arrest, secondary to malignant ventricular tachycardia that developed while he was playing basketball.

摘要

纳克索斯病是一种隐性遗传性疾病,伴有致心律失常性右心室发育不良(ARVD)和一种特殊的皮肤表型(羊毛状头发和掌跖角化病)。羊毛状头发从出生就出现,掌跖角化病在儿童期发展,心肌病在青春期出现临床表现。患者表现为晕厥、持续性室性心动过速或猝死。我们报告一例来自西班牙的14岁男孩,他在打篮球时发生恶性室性心动过速,心脏骤停后经复苏被送入我们的急诊室。

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