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复杂性房性心律失常作为儿茶酚胺能多形性室性心动过速的首发表现:一名携带2型兰尼碱受体基因新突变患者的不寻常病程

Complex atrial arrhythmias as first manifestation of catecholaminergic polymorphic ventricular tachycardia: an unusual course in a patient with a new mutation in ryanodine receptor type 2 gene.

作者信息

Lawrenz Wolfgang, Krogmann Otto N, Wieczorek Marcus

机构信息

1Clinic for Pediatric Cardiology,Congenital Heart Disease,Heart Center Duisburg,Duisburg,Germany.

2Clinic for Electrophysiology,Evangelic Hospital Dinslaken,Dinslaken,Germany.

出版信息

Cardiol Young. 2014 Aug;24(4):741-4. doi: 10.1017/S1047951113001091. Epub 2013 Aug 28.

Abstract

Catecholaminergic polymorphic ventricular tachycardia is a rare life-threatening arrhythmogenic disorder. An association with paroxysmal atrial fibrillation and other atrial arrhythmias has been described, but in all published cases the initial manifestation of the disease was ventricular arrhythmia. This is the first report about a patient who presented with complex atrial tachycardia and sinus node dysfunction about 1 year before the typical ventricular arrhythmias were observed, leading to the diagnosis of catecholaminergic polymorphic ventricular tachycardia. In this girl, a mutation of the ryanodine receptor type 2 gene, which has not been described so far, was discovered.

摘要

儿茶酚胺能多形性室性心动过速是一种罕见的危及生命的致心律失常性疾病。已有报道称其与阵发性心房颤动及其他房性心律失常有关,但在所有已发表的病例中,该疾病的初始表现均为室性心律失常。本文首次报道了一名患者,在观察到典型室性心律失常约1年前,先出现了复杂房性心动过速和窦房结功能障碍,最终诊断为儿茶酚胺能多形性室性心动过速。在这个女孩身上,发现了迄今尚未见报道的2型兰尼碱受体基因突变。

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