Life-threatening arrhythmias with autosomal recessive TECRL variants.
Gregory WebsterElhadi Husein AburawiMarie-A ChaixStephanie F ChandlerRoger Sik Yin FooA K M Monwarul IslamJanneke A E KammeraadJohn D RiouxLihadh Al-GazaliMd Zahidus SayeedTingting XiaoHan ZhangLijian XieCuilan HouAlexander IngKai Lee YapArthur A M WildeZahurul A BhuiyanPublished in: 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 (2021)
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.