杂合型TECRL变异在3型儿茶酚胺能多态性室性心动过速中的致心律失常电位。

IF 8 1区医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS

JACC. Clinical electrophysiology Pub Date : 2025-04-01 DOI:10.1016/j.jacep.2024.12.015

Alessandra Pia Porretta MD, PhD , Mathieu Le Bloa MD , Zahurul Alam Bhuiyan MD, PhD , Nicole Sekarski MD , Isis Atallah MD , Cédric Le Caignec MD, PhD , Fabrice Extramiana MD, PhD , Etienne Pruvot MD

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引用次数: 0

摘要

TECRL是常染色体隐性形式的儿茶酚胺能多态性室性心动过速（CPVT）的致病基因，即所谓的3型CPVT。然而，在世界范围内仅报道了17个家族，没有描述有症状的杂合子携带者。我们在此报告了一个欧洲血统家庭的基因型和临床表型，其中包含一个新的TECRL致病变异，并首次在TECRL杂合变异携带者中发现cpvt样表型。由于这一新的证据，临床医生应该意识到，在临床诊断为CPVT的情况下，TECRL杂合变异携带者应该进行心脏评估和治疗介绍。

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Arrhythmogenic Potential of Heterozygous TECRL Variants in Type 3 Catecholaminergic Polymorphic Ventricular Tachycardia

TECRL is the causative gene of an autosomal-recessive form of catecholaminergic polymorphic ventricular tachycardia (CPVT), the so-called type 3 CPVT. However, only 17 families have been reported worldwide and no case of symptomatic heterozygous carriers has been described. We report herein genotypes and clinical phenotypes of a family of European ancestry harboring a new TECRL pathogenic variant and, for the first time, a CPVT-like phenotype in a TECRL heterozygous variant carrier. Due to this novel evidence, clinicians should be aware that TECRL heterozygous variant carriers should undergo cardiac assessment and therapy introduction in case of a CPVT clinical diagnosis.

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来源期刊

JACC. Clinical electrophysiology CARDIAC & CARDIOVASCULAR SYSTEMS-

CiteScore

10.30

自引率

5.70%

发文量

250

期刊介绍： JACC: Clinical Electrophysiology is one of a family of specialist journals launched by the renowned Journal of the American College of Cardiology (JACC). It encompasses all aspects of the epidemiology, pathogenesis, diagnosis and treatment of cardiac arrhythmias. Submissions of original research and state-of-the-art reviews from cardiology, cardiovascular surgery, neurology, outcomes research, and related fields are encouraged. Experimental and preclinical work that directly relates to diagnostic or therapeutic interventions are also encouraged. In general, case reports will not be considered for publication.