scholarly journals Electrocardiographic Screening in the First Days of Life for Diagnosing Long QT Syndrome: Findings from a Birth Cohort Study in Germany

Neonatology ◽  
2020 ◽  
pp. 1-8
Author(s):  
Alexander Simma ◽  
Antonia Potapow ◽  
Susanne Brandstetter ◽  
Holger Michel ◽  
Michael Melter ◽  
...  
Keyword(s):  
Cohort Study ◽  
Birth Cohort ◽  
Long Qt Syndrome ◽  
Sudden Infant Death ◽  
Birth Cohort Study ◽  
Sudden Infant ◽  
Cascade Screening ◽  
Long Qt ◽  
Qt Syndrome ◽  
Congenital Lqts

<b><i>Introduction:</i></b> Newborn sudden infant death syndrome (SIDS) has failed to decrease in the last decades, and a third of the neonatal cases occurred within the first 6 days of life. The long QT syndrome (LQTS) is a genetic disease with a prevalence of 1 in 2,000 live births and contributes to almost 10% of SIDS cases. Early identification of LQTS through electrocardiogram (ECG) screening is likely to reduce mortality. <b><i>Methods and Results:</i></b> In this ongoing prospective study we evaluated 2,251 ECGs from newborns participating in the KUNO Kids birth cohort study between July 2015 and July 2018. ECGs were recorded at a mean age of 2.0 days (IQR 0 days). The QT interval was corrected for heart rate using Bazett’s formula (QTc). A QTc between 451 and 460, 461–470, and &#x3e;470 ms was measured in 23 (1.0), 14 (0.6), and 62 (2.8%) participants, respectively. Fourteen neonates (0.62%) were admitted and monitored because their initial QTc was ≥500 ms. In 2 genetically analyzed participants, a mutation was found. One disease-causing for LQTS type 1 and the other of unclear significance. Cascade screening revealed affected members in both families. <b><i>Conclusion:</i></b> A standardized neonatal ECG screening in the first days of life is able to identify neonates with a relevant transient form of prolonged QT intervals and to aid diagnosing congenital LQTS.

scholarly journals Cardiac Ion Channelopathies and the Sudden Infant Death Syndrome

2012 ◽  
Vol 2012 ◽  
pp. 1-28 ◽  
Author(s):  
Ronald Wilders
Keyword(s):  
Ion Channel ◽  
Sudden Infant Death Syndrome ◽  
Long Qt Syndrome ◽  
Infant Death ◽  
Sudden Infant Death ◽  
Polymorphic Ventricular Tachycardia ◽  
Sudden Infant ◽  
Long Qt ◽  
Combining Data ◽  
Qt Syndrome

The sudden infant death syndrome (SIDS) causes the sudden death of an apparently healthy infant, which remains unexplained despite a thorough investigation, including the performance of a complete autopsy. The triple risk model for the pathogenesis of SIDS points to the coincidence of a vulnerable infant, a critical developmental period, and an exogenous stressor. Primary electrical diseases of the heart, which may cause lethal arrhythmias as a result of dysfunctioning cardiac ion channels (“cardiac ion channelopathies”) and are not detectable during a standard postmortem examination, may create the vulnerable infant and thus contribute to SIDS. Evidence comes from clinical correlations between the long QT syndrome and SIDS as well as genetic analyses in cohorts of SIDS victims (“molecular autopsy”), which have revealed a large number of mutations in ion channel-related genes linked to inheritable arrhythmogenic syndromes, in particular the long QT syndrome, the short QT syndrome, the Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia. Combining data from population-based cohort studies, it can be concluded that at least one out of five SIDS victims carries a mutation in a cardiac ion channel-related gene and that the majority of these mutations are of a known malignant phenotype.

Sudden infant death syndrome and long QT syndrome: an epidemiological and genetic study

2005 ◽  
Vol 120 (3) ◽  
pp. 129-137 ◽  
Author(s):  
Horst Wedekind ◽  
Thomas Bajanowski ◽  
Patrick Friederich ◽  
Günter Breithardt ◽  
Thomas Wülfing ◽  
...  
Keyword(s):  
Sudden Infant Death Syndrome ◽  
Long Qt Syndrome ◽  
Infant Death ◽  
Genetic Study ◽  
Sudden Infant Death ◽  
Sudden Infant ◽  
Long Qt ◽  
Qt Syndrome

Role of congenital long-QT syndrome in unexplained sudden infant death: proposal for an electrocardiographic screening in relatives

2009 ◽  
Vol 168 (7) ◽  
pp. 771-777 ◽  
Author(s):  
Alban-Elouen Baruteau ◽  
Julien Baruteau ◽  
Ryad Joomye ◽  
Raphael Martins ◽  
Frédéric Treguer ◽  
...  
Keyword(s):  
Long Qt Syndrome ◽  
Infant Death ◽  
Sudden Infant Death ◽  
Sudden Infant ◽  
Long Qt ◽  
Qt Syndrome ◽  
Congenital Long Qt Syndrome

How many cases of sudden infant death syndrome are due to the long QT syndrome?

Heart Rhythm ◽  
2005 ◽  
Vol 2 (5) ◽  
pp. S110-S111 ◽  
Author(s):  
Marianne Arnestad ◽  
Lia Crotti ◽  
Matteo Pedrazzini ◽  
Roberto Insolia ◽  
Chiara Ferrandi ◽  
...  
Keyword(s):  
Sudden Infant Death Syndrome ◽  
Long Qt Syndrome ◽  
Infant Death ◽  
Sudden Infant Death ◽  
Sudden Infant ◽  
Long Qt ◽  
Qt Syndrome

Abstract 2927: Long QT Syndrome as a Cause of Stillbirths

Circulation ◽  
2007 ◽  
Vol 116 (suppl_16) ◽  
Author(s):  
Lia Crotti ◽  
Roberto Insolia ◽  
Alice Ghidoni ◽  
Patrizio Antonazzo ◽  
Fabio Facchinetti ◽  
...  
Keyword(s):  
Long Qt Syndrome ◽  
Sodium Current ◽  
Sudden Infant Death ◽  
Sudden Infant ◽  
Missense Mutations ◽  
Long Qt ◽  
Late Sodium Current ◽  
Qt Syndrome ◽  
Reliable Quantification ◽  
Ion Channel Diseases

Background : Stillbirths (intrauterine fetal deaths occurring after the 22 th week of gestation) notably contribute to perinatal mortality. Among them, 25–50% of cases remain unexplained after thorough investigation. We recently demonstrated that 10% of Sudden Infant Death Syndrome (SIDS) cases carry functionally relevant genetic variants in Long QT Syndrome (LQTS) genes. We previously hypothesized that severe forms of LQTS could contribute to mortality not only shortly after birth but also before. Accordingly, we are now screening LQTS genes in unexplained stillbirths. Materials and Methods : We receive DNA from an ongoing Italian multicenter study on rigorously defined ``unexplained stillbirths”. DNA is extracted from placenta or umbilical cord. Through DHPLC and sequence analysis we screen the main LQTS genes: KCNQ1, KCNH2, SCN5A, KCNE1 and KCNE2. Any amino-acid substitution identified in the samples is checked in a control population of 122 Caucasian controls. Here, we report the preliminary data on the first 17 cases (gestational age of death: 23–38 weeks). Results : A total of 3 missense mutations have been identified in 3 of 17 stillbirths (18%). Two were on SCN5A and one on KCNH2 . The two mutations on SCN5A (V1951L; P2006A) have been previously associated to SIDS and shown to increase the late sodium current. The mutation on KCNH2 is a novel genetic variant absent in 244 reference alleles and never described in any control populations. We are currently performing the electrophysiological cellular studies to define its functional effect. Conclusions : The initial data from this ongoing study already indicate that a yet to be defined but potentially significant number of currently unexplained intrauterine fetal deaths might be caused by ion channel diseases such as LQTS. The completion of our study will soon provide a reliable quantification of this contribution. There are potentially important implications for the affected families, ranging from prevention of recurrences to identification of other affected family members and to possible prevention of SIDS or later sudden deaths in subsequent siblings.

A Molecular Link between the Sudden Infant Death Syndrome and the Long-QT Syndrome

2000 ◽  
Vol 343 (4) ◽  
pp. 262-267 ◽  
Author(s):  
Peter J. Schwartz ◽  
Silvia G. Priori ◽  
Robert Dumaine ◽  
Carlo Napolitano ◽  
Charles Antzelevitch ◽  
...  
Keyword(s):  
Sudden Infant Death Syndrome ◽  
Long Qt Syndrome ◽  
Infant Death ◽  
Sudden Infant Death ◽  
Sudden Infant ◽  
Long Qt ◽  
Qt Syndrome
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