[青少年儿茶酚胺能多态性室性心动过速的临床、心电图和遗传诊断]。

María Concepción Rocha-Arrieta, Antonio Arias-Díaz, Carlos Alberto Quiróz-Romero, Yermis Rocha-Arrieta
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引用次数: 0

摘要

儿茶酚胺能多态性室性心动过速是最致命的通道病之一,其特征是由压力或身体活动引发的室性心律失常。我们报告了一个青少年因运动诱发的复发性晕厥咨询的病例。在诊断方法中,达到了儿茶酚胺能多态性室性心动过速,心脏ryanodine受体基因发生突变,杂合c.14311G>a(p.v4771I外显子100),抗心律失常药物和植入式心律转复除颤器是必要的,并有令人满意的发展。临床怀疑、压力测试和基因测试对于及时诊断和管理这种病理至关重要。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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[Catecholaminergic polymorphic ventricular tachycardia in adolescents: a clinical, electrocardiographic and genetic diagnosis].

Catecholaminergic polymorphic ventricular tachycardia is one of the most lethal channelopathies, characterized by ventricular arrhythmias triggered by stress or physical activity. We present the case of an adolescent who consulted for recurrent syncope precipitated by exercise. In the diagnostic approach, catecholaminergic polymorphic ventricular tachycardia was reached, with a mutation in the cardiac ryanodine receptor gene, Heterozygous c.14311G> A (p.v4771I exon 100), antiarrhythmic drugs and implantable cardioverter-defibrillator were necessary with satisfactory evolution. Clinical suspicion, stress test and genetic tests are essential for a timely diagnosis and management of this pathology.

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CiteScore
0.40
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审稿时长
4 weeks
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