Gregory Webster1, Elhadi H Aburawi2, Marie A Chaix3, Stephanie Chandler1, Roger Foo4, A K M Monwarul Islam5, Janneke A E Kammeraad6, John D Rioux7,8, Lihadh Al-Gazali2, Md Zahidus Sayeed9, Tingting Xiao10, Han Zhang10, Lijian Xie10, Cuilan Hou10, Alexander Ing11, Kai Lee Yap11, Arthur A M Wilde12, Zahurul A Bhuiyan13. 1. Division of Cardiology, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. 2. Department of Pediatrics, College of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates. 3. Adult Congenital Centre, Department of Medicine, Montreal Heart institute, Université de Montréal, Montreal, Québec, Canada. 4. Department of Cardiology, National University Hospital, Singapore 119074. 5. Department of Noninvasive Cardiology, National Institute of Cardiovascular Diseases, Dhaka, Bangladesh. 6. Department of Pediatric Cardiology, Erasmus Medical Center-Sophia Children's Hospital, Rotterdam, The Netherlands. 7. Department of Medicine, Université de Montréal, Montreal, Québec, Canada. 8. Research Center, Department of Medicine, Montreal Heart Institute, Montreal, Québec, Canada. 9. Department of Cardiology, Rajshahi Medical College, Rajshahi, Bangladesh. 10. Department of Cardiology, Shanghai Children's Hospital, Shanghai Jiaotong University, No. 355 Luding Road, Shanghai 200062, China. 11. Department of Pathology, Ann & Robert H. Lurie Children's Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL, USA. 12. Department of Clinical and Experimental Cardiology, Heart Center, Amsterdam University Medical Centres, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. 13. Unit of Cardiogenetics Research, Division of Genetic Medicine, University Hospital Lausanne (CHUV), Lausanne, Switzerland.
Abstract
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. Published on behalf of the European Society of Cardiology. All rights reserved.
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. Published on behalf of the European Society of Cardiology. All rights reserved.
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