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.

scholarly journals Prolonged QTc: "Mind the Gap"

2014 ◽  
Vol 2 (1) ◽  
pp. 44-45
Author(s):  
Ahmad Mursel Anam ◽  
Raihan Rabbani ◽  
Farzana Shumy ◽  
M Mufizul Islam Polash ◽  
M Motiul Islam ◽  
...  
Keyword(s):  
Cardiac Arrest ◽  
Long Qt Syndrome ◽  
Qt Interval ◽  
Torsades De Pointes ◽  
Junior Doctors ◽  
Long Qt ◽  
Acquired Long Qt Syndrome ◽  
Prolonged Qt Interval ◽  
Prolonged Qt ◽  
Qt Syndrome

We report a case of drug induced torsades de pointes, following acquired long QT syndrome. The patient got admitted for shock with acute abdomen. The initial prolonged QT-interval was missed, and a torsadogenic drug was introduced post-operatively. Patient developed torsades de pointes followed by cardiac arrest. She was managed well and discharged without complications. The clinical manifestations of long QT syndromes, syncope or cardiac arrest, result from torsades de pointes. As syncope or cardiac arrest have more common differential diagnoses, even the symptomatic long QT syndrome are commonly missed or misdiagnosed. In acquired long QT syndrome with no prior suggestive feature, it is not impossible to miss the prolonged QT-interval on the ECG tracing. We share our experience so that the clinicians, especially the junior doctors, will be more alert on checking the QT-interval even in asymptomatic patients. DOI: http://dx.doi.org/10.3329/bccj.v2i1.19970 Bangladesh Crit Care J March 2014; 2 (1): 44-45

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 Long QT syndrome and its role in THE development of severe heart rhythm disturbances and sudden death

2016 ◽  
pp. 13-19
Author(s):  
L. S. Kovalchuk
Keyword(s):  
Sudden Death ◽  
Long Qt Syndrome ◽  
Qt Interval ◽  
Heart Rhythm ◽  
Long Qt ◽  
Intracellular Magnesium ◽  
Qt Syndrome ◽  
Pathologic Physiology

The article presents information from national and foreign sources on the significance of long QT syndrome on the electrocardiogram as a predictor of severe heart rhythm disturbances and sudden death. It considers the pathologic physiology of the present syndrome, the deficiency of intracellular magnesium plays an important part in its mechanism, which determines the therapeutic aspects leading to normalization of the QT interval

Evaluation of Prolonged QT Interval: Structural Heart Disease Mimicking Long QT Syndrome

2017 ◽  
Vol 40 (4) ◽  
pp. 417-424 ◽  
Author(s):  
ADAYA WEISSLER-SNIR ◽  
MICHAEL H. GOLLOB ◽  
VIJAY CHAUHAN ◽  
MELANIE CARE ◽  
DANNA A. SPEARS
Keyword(s):  
Heart Disease ◽  
Long Qt Syndrome ◽  
Qt Interval ◽  
Structural Heart Disease ◽  
Long Qt ◽  
Prolonged Qt Interval ◽  
Prolonged Qt ◽  
Qt Syndrome

scholarly journals Prolonged QT interval on electrocardiogram and fainting — is there always a relationship?

2021 ◽  
Vol 102 (5) ◽  
pp. 747-750
Author(s):  
Yu S Mishanina ◽  
V N Oslopov ◽  
Yu V Oslopova ◽  
Yu E Teregulov ◽  
E V Khazova
Keyword(s):  
Sudden Cardiac Death ◽  
Long Qt Syndrome ◽  
Qt Interval ◽  
Cardiac Death ◽  
Vasovagal Syncope ◽  
Tilt Test ◽  
Long Qt ◽  
Prolonged Qt Interval ◽  
Prolonged Qt ◽  
Qt Syndrome

Using a clinical example, the article draws the attention of doctors to the problem of the prolonged QT interval (long QT) and the related problem of fainting (syncope). Syncope is a component of long QT syndrome, and syncope is a precursor of sudden cardiac death. However, syncope in a patient with long QT syndrome may have pathogenesis that is completely unrelated to abnormalities of cardiac ion channels. In other words, such a patient may have a second disease as a syntropy relates to prolonged QT interval, to an extent mimicking long QT syndrome. The presented medical history of a 33-year-old patient S. shows the complexity of differential diagnosis of the causes of syncope. The crucial part in the diagnosis, in addition to the clinical picture, was the so-called tilt test, little-known to general medical practice, as well as the laboriousness of making a final diagnosis of the long QT Syndrome type 2, which required a molecular genetic study whole-exome sequencing. Patient S. had vasovagal syncope that not associated with long QT syndrome, but she has a risk of sudden cardiac death, and the article identifies therapeutic and other measures to reduce this risk.

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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