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.

Abstract 1778: Electrocardiographic and Genetic Screening for Long QT Syndrome: Results from a Prospective Study on 44,596 Neonates

Circulation ◽  
2007 ◽  
Vol 116 (suppl_16) ◽  
Author(s):  
Marco Stramba-Badiale ◽  
Lia Crotti ◽  
Karine Goulene ◽  
Matteo Pedrazzini ◽  
Savina Mannarino ◽  
...  
Keyword(s):  
Sudden Death ◽  
Genetic Analysis ◽  
Prospective Study ◽  
Long Qt Syndrome ◽  
Qt Interval ◽  
Family Members ◽  
Long Qt ◽  
Prolonged Qt ◽  
Qt Syndrome ◽  
A Prospective Study

Background. The long QT syndrome (LQTS), a leading cause of sudden death under 20 years of age, is due to mutations in genes which encode ion channels involved in the control of ventricular repolarization. In a prospective study on 34,000 neonates we found that a prolonged QT interval was associated with a 41 times greater risk for sudden infant death syndrome (SIDS) and, recently, in a case-control study on 201 cases of SIDS we found disease-causing LQTS mutations in 9.5% of the victims. Based on these results the Italian Ministry of Health is considering the possibility of introducing in the National Health Service an electrocardiographic (ECG) screening program in the first month of life to identify infants affected by LQTS. A realistic assessment of the prevalence of infants with LQTS becomes necessary. Methods. An ECG was recorded in the first month of life in 44,596 neonates. The QT interval was measured and corrected for heart rate according to the Bazett’s formula (QTc). In the neonates with a markedly prolonged QT (QTc ≥ 470 msec) molecular screening of the LQTS genes was performed. Results. A QTc between 440 and 470 msec was observed in 611 neonates (1.4%). A QTc ≥ 470 ms was found in 31 neonates (0.07%). Genetic analysis was performed in 28/31 (90%) neonates and LQTS mutations were identified in 14 of them (50%): 8 were LQT1, 4 LQT2 and 2 LQT3. Besides one de novo mutation, all other cases were familial and genetic analysis identified additional family members (37/72, 51%) affected by LQTS who had not been previously diagnosed. Within these 28 infants QTc was longer in the positively genotyped neonates (493±22 vs 479±6 ms, p=0.037) and a LQTS mutation was identified in all the neonates (n=5) with a QTc > 496 ms. Conclusions. An ECG performed in the first month of life, with genetic analysis in selected cases, allows early diagnosis of infants with sporadic and familial forms of LQTS, thus leading to institution of effective therapies aimed at preventing sudden death either in infancy or later on in life, not only in the neonates but also in their affected family members. This study also provides a first data-based estimate of LQTS prevalence, likely to be between 1/3,000 and 1/2,500 live births.

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 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 223: A Case for Hypoxia and Long QT Syndrome in Sudden Infant Death Syndrome

2012 ◽  
Vol 111 (suppl_1) ◽  
Author(s):  
Marianne Neary ◽  
Timothy J Mohun ◽  
Ross A Breckenridge
Keyword(s):  
Risk Factors ◽  
Heart Rate ◽  
Sudden Death ◽  
Long Qt Syndrome ◽  
Sudden Infant Death ◽  
Sudden Infant ◽  
Qtc Interval ◽  
Long Qt ◽  
Qt Syndrome ◽  
Ecg Morphology

INTRODUCTION: Long QT syndrome is considered an important factor in the pathogenesis of Sudden Infant Death Syndrome (SIDS). Prolonged QTc intervals (c=corrected for heart rate) in SIDS are sometimes caused by mutations in genes encoding ion channels. Other causes remain largely idiopathic. HYPOTHESIS: Risk factors for SIDS, including maternal bed sharing, head covering and high altitude, are associated with a reduced oxygen environment. Our studies investigate a link between hypoxia and long QT syndrome in the neonate. METHODS: We characterised, for the first time, changes in the murine neonatal electrocardiogram (ECG) at: 0, 1, 3, 6, 12, 24 hours (n=12) and 2, 6 and 10 days (n=25) after birth. We investigated whether birth into hypoxia 10% O2 (n=16) and genetically elevating cardiac hypoxic signalling in neonatal mice alters the course of changes in ECG morphology (n=14). We analysed the ECG for heart rate and parameters associated with dysrrhythmia and sudden death, including the QTc interval. RESULTS: In the hours and days following birth, we observed a steady increase in heart rate (p<0.0001) and decrease in QTc interval (p<0.05). When neonates were raised in hypoxia for 24 hours, the trends in heart rate (p<0.001) and QTc interval (p<0.0001) were abolished and risk of neonatal death was 52% (17 out of 33) over 24 hours. In transgenic neonatal mice with elevated cardiac hypoxic signalling, we observed a significant bradycardia (p<0.0001) and elongated QTc interval (p<0.0001) compared to controls at ten days after birth, with death occurring pre-weaning. >CONCLUSIONS: Following birth there are significant changes in ECG morphology, including an increase in heart rate and decrease in QTc interval. Hypoxia diminishes these changes resulting in bradycardia and elongated QTc intervals. We hypothesise that the increase in ambient oxygen concentration after birth drives the maturation of cardiac electrical conduction, failure of which predisposes to dysrhythmia and sudden death. This is consistent with known risk factors of SIDS and provides a link between neonatal hypoxia and ECG repolarisation abnormalities.

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.

A SCN5A mutation caused ST elevation, transient QT prolongation and sudden death: An atypical phenotype of Brugada-long QT syndrome?

Heart Rhythm ◽  
2005 ◽  
Vol 2 (5) ◽  
pp. S265
Author(s):  
Li Zhang ◽  
Tiehua Chen ◽  
Michael Sheets ◽  
Robert L. Lux ◽  
Michael S. Schaffer ◽  
...  
Keyword(s):  
Sudden Death ◽  
Long Qt Syndrome ◽  
Qt Prolongation ◽  
Long Qt ◽  
St Elevation ◽  
Qt Syndrome ◽  
Atypical Phenotype ◽  
Scn5a Mutation

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

ECG patterns related to arrhythmias and sudden death: channelopathies, early repolarization, and pre-excitation

ESC CardioMed ◽  
2018 ◽  
pp. 382-389
Author(s):  
Wojciech Zareba ◽  
Pyotr Platonov
Keyword(s):  
Sudden Death ◽  
Long Qt Syndrome ◽  
Ventricular Arrhythmias ◽  
Prior History ◽  
Long Qt ◽  
Early Repolarization ◽  
Genes Encoding ◽  
History Of ◽  
Qt Syndrome ◽  
Characteristic Features

Electrocardiogram (ECG) patterns recognized in patients with sudden death without structural abnormalities in the heart have guided cardiology over the last few decades towards a better understanding of the role of cardiac ion channels in physiology and in arrhythmogenicity in rare electrical diseases. The long QT syndrome became the paradigm for evaluating the association between specific ion channel abnormalities caused by mutations in genes encoding predominantly potassium and sodium channels and phenotypic ECG expression. Specific ECG patterns observed in long QT syndrome help in diagnosis and improve prognosis in patients affected by this disorder. Short QT syndrome also is characterized by specific patterns in repolarization morphology that relate to affected potassium current or calcium handling genes. Brugada syndrome and early repolarization syndrome are considered as J-wave syndromes, having some similarities in ECG features but with distinctive patterns associated with classical forms of these disorders. Spontaneous appearance of cove-type Brugada pattern is associated with a worse prognosis. Early repolarization patterns may also indicate prognosis in subjects with a prior history of cardiac arrest or ventricular arrhythmias or a family history of cardiac arrests. Catecholaminergic polymorphic ventricular tachycardia is another channelopathy without characteristic features in standard resting ECG but with characteristic polymorphic ventricular arrhythmias during catecholaminergic challenge (exercise test, stressing situations). Pre-excitation syndromes associated with sudden cardiac death are well recognized and current understanding of these disorders leads to a better therapy.

scholarly journals The Efficacy of Beta-Blockers in Patients With Long QT Syndrome 1–3 According to Individuals’ Gender, Age, and QTc Intervals: A Network Meta-analysis

2020 ◽  
Vol 11 ◽  
Author(s):  
Lu Han ◽  
Fuxiang Liu ◽  
Qing Li ◽  
Tao Qing ◽  
Zhenyu Zhai ◽  
...  
Keyword(s):  
Long Qt Syndrome ◽  
Clinical Evidence ◽  
Beta Blockers ◽  
Meta Analysis ◽  
Cardiac Events ◽  
Long Qt ◽  
Confounding Variables ◽  
Qt Syndrome ◽  
The Relationship

Long QT syndrome (LQTS) is an arrhythmic heart disease caused by congenital genetic mutations, and results in increased occurrence rates of polymorphic ventricular tachyarrhythmias and sudden cardiac death (SCD). Clinical evidence from numerous previous studies suggested that beta blockers (BBs), including atenolol, propranolol, metoprolol, and nadolol, exhibit different efficacies for reducing the risk of cardiac events (CEs), such as syncope, arrest cardiac arrest (ACA), and SCD, in patients with LQTS. In this study, we identified relevant studies in MEDLINE, PubMed, embase, and Cochrane databases and performed a meta-analysis to assess the relationship between the rate of CEs and LQTS individuals with confounding variables, including different gender, age, and QTc intervals. Moreover, a network meta-analysis was not only established to evaluate the effectiveness of different BBs, but also to provide the ranked efficacies of BBs treatment for preventing the recurrence of CEs in LQT1 and LQT2 patients. In conclusion, nadolol was recommended as a relatively effective strategy for LQT2 in order to improve the prognosis of patients during a long follow-up period.

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