Life-threatening arrhythmias with autosomal recessive TECRL variants

Gregory Webster*, Elhadi H. Aburawi, Marie A. Chaix, Stephanie Chandler, Roger Foo, A. K.M.Monwarul Islam, Janneke A.E. Kammeraad, John D. Rioux, Lihadh Al-Gazali, Md Zahidus Sayeed, Tingting Xiao, Han Zhang, Lijian Xie, Cuilan Hou, Alexander Ing, Kai Lee Yap, Arthur A.M. Wilde, Zahurul A. Bhuiyan

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

16 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)781-788
Number of pages8
Issue number5
Early online date25 Dec 2020
Publication statusPublished - 1 May 2021

Bibliographical note

Funding Information:
This work was supported by the National Heart, Lung and Blood Institute at the National Institutes of Health (grant number K23HL130554); the American Heart Association Mentored Clinical and Population Research Award (17MCPRP33660457) and the American Heart Association Strategic Focused Research Network grant for Sudden Death (Dallas, TX); the Netherlands CardioVascular Research Initiative; the Dutch Heart Foundation; Dutch Federation of University Medical Centres; the Netherlands Organisation for Health Research and Development; the Royal Netherlands Academy of Sciences (PREDICT-2); and the Swiss Heart Foundation (number: 29283).

Publisher Copyright:
© The Author(s) 2020.


Dive into the research topics of 'Life-threatening arrhythmias with autosomal recessive TECRL variants'. Together they form a unique fingerprint.

Cite this