Division of Cardiology, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Department of Pediatrics, College of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates.
Europace. 2021 May 21;23(5):781-788. doi: 10.1093/europace/euaa376.
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.
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.
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.
在具有双等位基因变异的 TECRL 患者中观察到猝死和猝死未遂。然而，仅开始描述表型，并且在长期随访后没有关于医学治疗的数据。
进行了一项国际性的多中心回顾性研究。我们报告了与 TECRL 变体相关的新病例和来自先前发表的病例的长期随访结果。我们报告了 10 例和 37 例无症状杂合子携带者。心脏症状发作的中位年龄为 8 岁（范围 1-22 岁），平均随访时间为 10.3 年（标准差为 8.3 年），3 例因死亡而右删失。由于治疗失败，所有接受美托洛尔、比索洛尔或阿替洛尔治疗的患者均转换为纳多洛尔或普萘洛尔。观察到既有长 QT 综合征又有儿茶酚胺多形性室性心动过速（CPVT）典型表型的病例。尽管存在相同的纯合变体，但我们也观察到一些病例存在不同的表型。37 名杂合子家族成员中无一例有心脏表型。
具有双等位基因致病性 TECRL 变体的患者表现出不同的心律失常表型，包括长 QT 综合征和 CPVT 典型表型。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。杂合基因型的患者无心脏疾病或猝死。
