Life-threatening arrhythmias with autosomal recessive TECRL variants.-猫眼课题宝

DOI：

10.1093/europace/euaa376

发表时间：

2020-12

期刊：

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology

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通讯作者：

中科院分区：

其他

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作者：

G. Webster;E. Aburawi;M. Chaix;Stephanie F. Chandler;R. Foo;A. Islam;J. Kammeraad;J. Rioux;L. Al-Gazali;Md. Zahidus Sayeed;T. Xiao;Han Zhang;Lijian Xie;Cuilan Hou;Alexander Ing;K. Yap;A. Wilde;Z. Bhuiyan

目的在 TECRL 双等位基因变异的患者中观察到猝死和流产性猝死。然而，表型才刚刚开始被描述，长期随访后还没有药物治疗的数据。方法和结果进行了一项国际、多中心回顾性审查。我们报告与 TECRL 变异相关的新病例以及对先前发布的病例的长期随访。我们提供了 10 例病例和 37 名无症状杂合子携带者。出现心脏症状的中位年龄为 8 岁（范围 1-22 岁），病例随访平均为 10.3 年（标准差 8.3），其中 3 例因死亡而右删失。所有使用美托洛尔、比索洛尔或阿替洛尔的患者均因治疗失败而转为纳多洛尔或普萘洛尔。观察到长 QT 综合征和儿茶酚胺能多形性室性心动过速 (CPVT) 的典型表型。尽管具有相同的纯合变异，但在某些情况下我们还观察到不同的表型。 37 名杂合家庭成员均不具有心脏表型。结论具有双等位基因致病性 TECRL 变异的患者表现出不同的心律失常表型，包括典型的长 QT 综合征和 CPVT。在这种情况下，纳多洛尔和普萘洛尔可能是更好的β受体阻滞剂。杂合基因型患者不存在心脏病或猝死。

AIMS Sudden death and aborted sudden death have been observed in patients with biallelic variants in TECRL. However, phenotypes have only begun to be described and no data are available on medical therapy after long-term follow-up. METHODS AND RESULTS An international, multi-centre retrospective review was conducted. We report new cases associated with TECRL variants and long-term follow-up from previously published cases. We present 10 cases and 37 asymptomatic heterozygous carriers. Median age at onset of cardiac symptoms was 8 years (range 1-22 years) and cases were followed for an average of 10.3 years (standard deviation 8.3), right censored by death in three cases. All patients on metoprolol, bisoprolol, or atenolol were transitioned to nadolol or propranolol due to failure of therapy. Phenotypes typical of both long QT syndrome and catecholaminergic polymorphic ventricular tachycardia (CPVT) were observed. We also observed divergent phenotypes in some cases despite identical homozygous variants. None of 37 heterozygous family members had a cardiac phenotype. CONCLUSION Patients with biallelic pathogenic TECRL variants present with variable cardiac arrhythmia phenotypes, including those typical of long QT syndrome and CPVT. Nadolol and propranolol may be superior beta-blockers in this setting. No cardiac disease or sudden death was present in patients with a heterozygous genotype.

Life-threatening arrhythmias with autosomal recessive TECRL variants.

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