scholarly journals Life-threatening arrhythmias with autosomal recessive TECRL variants

EP Europace ◽  
2020 ◽  
Author(s):  
Gregory Webster ◽  
Elhadi H Aburawi ◽  
Marie A Chaix ◽  
Stephanie Chandler ◽  
Roger Foo ◽  
...  
Keyword(s):  
Sudden Death ◽  
Long Qt Syndrome ◽  
Polymorphic Ventricular Tachycardia ◽  
Long Qt ◽  
Cardiac Phenotype ◽  
Cardiac Symptoms ◽  
Long Term Follow Up ◽  
Qt Syndrome

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.

Abstract 15884: Life-threatening Arrhythmias With Autosomal Recessive TECRL Variants

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Gregory Webster ◽  
Elhadi H Aburawi ◽  
Marie Chaix ◽  
Stephanie Chandler ◽  
Roger Foo ◽  
...  
Keyword(s):  
Ventricular Tachycardia ◽  
Sudden Death ◽  
Long Qt Syndrome ◽  
Catecholaminergic Polymorphic Ventricular Tachycardia ◽  
Polymorphic Ventricular Tachycardia ◽  
Long Qt ◽  
Long Term Follow Up ◽  
Qt Syndrome

Introduction: Sudden death and aborted sudden death have been observed in patients with biallelic variants in TECRL . Phenotypes have only begun to be described and no data are available on medical therapy after long-term follow-up. Methods: An international, multicenter retrospective review was conducted. We report new cases associated with TECRL variants and long-term follow-up from previously published cases. Results: 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 (SD 8.3), right censored by death in 3 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 were observed. We also observed divergent phenotypes in some cases despite identical homozygous variants. None of 37 heterozygous family members had a cardiac phenotype. Conclusions: Patients with biallelic pathogenic TECRL variants present with variable cardiac arrhythmia phenotypes, including those typical of long QT syndrome and catecholaminergic polymorphic ventricular tachycardia. 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.

scholarly journals Long-Term Follow-Up of Patients With Long-QT Syndrome Treated With β-Blockers and Continuous Pacing

Circulation ◽  
1999 ◽  
Vol 100 (24) ◽  
pp. 2431-2436 ◽  
Author(s):  
Parvin C. Dorostkar ◽  
Michael Eldar ◽  
Bernard Belhassen ◽  
Melvin M. Scheinman
Keyword(s):  
Long Qt Syndrome ◽  
Long Qt ◽  
Long Term Follow Up ◽  
Β Blockers ◽  
Qt Syndrome

scholarly journals Long-term follow-up study of three patients with the long QT syndrome.

1992 ◽  
Vol 56 (10) ◽  
pp. 1025-1031 ◽  
Author(s):  
YUJI NAKAZATO ◽  
YASURO NAKATA ◽  
TAKASHI TOKANO ◽  
YASUHIKO OHNO ◽  
HARUTO FUJIOKA ◽  
...  
Keyword(s):  
Long Qt Syndrome ◽  
Long Qt ◽  
Follow Up Study ◽  
Long Term Follow Up ◽  
Qt Syndrome

scholarly journals Early Identification of Prolonged QT Interval for Prevention of Sudden Infant Death

2021 ◽  
Vol 9 ◽  
Author(s):  
Georgia Sarquella-Brugada ◽  
Oscar García-Algar ◽  
María Dolores Zambrano ◽  
Anna Fernández-Falgueres ◽  
Sebastian Sailer ◽  
...  
Keyword(s):  
Sudden Death ◽  
Genetic Analysis ◽  
Long Qt Syndrome ◽  
Early Identification ◽  
Sudden Infant ◽  
Clinical Value ◽  
Long Qt ◽  
Invasive Approach ◽  
Qt Syndrome

Introduction: Long QT syndrome is the main arrhythmogenic disease responsible for sudden death in infants, especially in the first days of life. Performing an electrocardiogram in newborns could enable early diagnosis and adoption of therapeutic measures focused on preventing lethal arrhythmogenic events. However, the inclusion of an electrocardiogram in neonatal screening protocols still remains a matter of discussion. To comprehensively analyse the potential clinical value of performing an electrocardiogram and subsequent follow-up in a cohort of newborns.Methods: Electrocardiograms were performed in 685 neonates within the first week of life. One year follow-up was performed if QTc > 450 ms identified. Comprehensive genetic analysis using massive sequencing was performed in all cases with QTc > 470 ms.Results: We identified 54 neonates with QTc > 450 ms/ <470 ms; all normalized QTc values within 6 months. Eight cases had QTc > 480 ms at birth and, if persistent, pharmacological treatment was administrated during follow-up. A rare variant was identified as the potential cause of long QT syndrome in five cases. Three cases showed a family history of sudden arrhythmogenic death.Conclusions: Our prospective study identifies 0.14% of cases with a definite long QT, supporting implementation of electrocardiograms in routine pediatric protocols. It is an effective, simple and non-invasive approach that can help prevent sudden death in neonates and their relatives. Genetic analyses help to unravel the cause of arrhythmogenic disease in diagnosing neonates. Further, clinical assessment and genetic analysis of relatives allowed early identification of family members at risk of arrhythmias helping to adopt preventive personalized measures.

scholarly journals Genetic variants associated with inherited cardiovascular disorders among 13,131 asymptomatic older adults of European descent

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Paul Lacaze ◽  
Robert Sebra ◽  
Moeen Riaz ◽  
Jodie Ingles ◽  
Jane Tiller ◽  
...  
Keyword(s):  
Cardiovascular Disease ◽  
Genetic Testing ◽  
Long Qt Syndrome ◽  
Polymorphic Ventricular Tachycardia ◽  
Prior History ◽  
Cardiovascular Disorders ◽  
Long Qt ◽  
History Of ◽  
Qt Syndrome

AbstractGenetic testing is used to optimise the management of inherited cardiovascular disorders that can cause sudden cardiac death. Yet more genotype–phenotype correlation studies from populations not ascertained on clinical symptoms or family history of disease are required to improve understanding of gene penetrance. We performed targeted sequencing of 25 genes used routinely in clinical genetic testing for inherited cardiovascular disorders in a population of 13,131 asymptomatic older individuals (mean age 75 years) enrolled in the ASPREE trial. Participants had no prior history of cardiovascular disease events, dementia or physical disability at enrolment. Variants were classified following ACMG/AMP standards. Sudden and rapid cardiac deaths were clinically adjudicated as ASPREE trial endpoints, and assessed during mean 4.7 years of follow-up. In total, 119 participants had pathogenic/deleterious variants in one of the 25 genes analysed (carrier rate of 1 in 110 or 0.9%). Participants carried variants associated with hypertrophic cardiomyopathy (N = 24), dilated cardiomyopathy (N = 29), arrhythmogenic right-ventricular cardiomyopathy (N = 22), catecholaminergic polymorphic ventricular tachycardia (N = 4), aortopathies (N = 1), and long-QT syndrome (N = 39). Among 119 carriers, two died from presumed sudden/rapid cardiac deaths during follow-up (1.7%); both with pathogenic variants in long-QT syndrome genes (KCNQ1, SCN5A). Among non-carriers, the rate of sudden/rapid cardiac deaths was significantly lower (0.08%, 11/12936, p < 0.001). Variants associated with inherited cardiovascular disorders are found in asymptomatic individuals aged 70 years and older without a history of cardiovascular disease.

Parents' long-term adjustment to the genetic test results of minors at risk for Long QT Syndrome

2004 ◽  
Author(s):  
K. S. W. H. Hendriks ◽  
F. J. M. Grosfeld ◽  
A. A. M. Wilde ◽  
J. van den Bout ◽  
I. M. van Langen ◽  
...  
Keyword(s):  
At Risk ◽  
Long Qt Syndrome ◽  
Genetic Test ◽  
Test Results ◽  
Long Qt ◽  
Genetic Test Results ◽  
Qt Syndrome

A rare indication of permanent pacemaker implantation in children: congenital long QT syndrome

2020 ◽  
Vol 30 (12) ◽  
pp. 1880-1881
Author(s):  
Mehmet Taşar ◽  
Nur Dikmen Yaman ◽  
Huseyin Dursin ◽  
Murat Şimşek ◽  
Senem Özgür
Keyword(s):  
Sudden Death ◽  
Long Qt Syndrome ◽  
Pacemaker Implantation ◽  
Torsades De Pointes ◽  
Permanent Pacemaker ◽  
Long Qt ◽  
Permanent Pacemaker Implantation ◽  
Qt Syndrome ◽  
Congenital Lqts ◽  
Congenital Long Qt Syndrome

AbstractCongenital Long QT Syndrome (LQTS) is a dangerous arrhythmic disorder that can be diagnosed in children with bradycardia. It is characterised by a prolonged QT interval and torsades de pointes that may cause sudden death. Long QT syndrome is an ion channelopathy with complex molecular and physiological infrastructure. Unlike the acquired type, congenital LQTS has a genetic inheritance and it may be diagnosed by syncope, stress in activity, cardiac dysfunction, sudden death or sometimes incidentally. Permanent pacemaker implantation is required for LQTS with resistant bradycardia even in children to resolve symptoms and avoid sudden death.

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