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Prevalence of QTc alterations in neonates: age and genetic determinants: end of term project

Background: Long QT syndrome (LQTS) is an arrhythmogenic disease characterized by the 
presence of a prolonged QT interval on the ECG. LQTS is associated with sudden cardiac 
death in the young. LQTS is genetic; therefore other family members could be carriers of 
the same pathogenic genetic variants and be at risk of sudden death. Early identification of 
these individuals is essential to adopt protective therapies and prevent sudden death. 
LQTS is also one of the most important causes of sudden infant death syndrome (SIDS), 
death of a child in the first year of life, with a normal autopsy. Thus, in order to prevent 
SIDS, in recent years there has been an important impulse by the scientific community 
towards the implantation of a program of screening of newborns with an ECG, for the 
detection of this ECG abnormality. However, not all agree, and there is important 
controversy as to the clinical value, and cost-effectiveness of this approach. In order to 
shed some light into this subject we propose a broad analysis of this subject by performing 
an electrocardiographic screening of the newborn to identify abnormal prolongation of the 
QT interval. Aims: In healthy term neonates in Sant Joan de Deu hospital we propose to 
collect a 5 year prospective cohort in order to analyze the prevalence of prolongation of 
the QT interval on the ECG, the percentage of long QT which normalizes during the first 
year of life, and a potential genetic basis in patients who maintain a QTc>460 at the 
twelfth month of life. Methods: We will perform four ECG, at 48 hours, first, sixth and 
twelfth month to an estimated 4.500 participants. The QTc will be measured by three 
different investigators. Genetic analyses will be performed with the use of Next 
Generation Sequencing technology. Outcomes: The results of this work will enable to 
assess the value of neonatal ECG screening in the detection of prolonged QT interval, the 
variability of the electrocardiographic parameter during the first months of development, 
and the prevalence of the genetic disease in the patient population. Finally, this work will 
set the basis towards defining whether there are benefits of implementing mandatory 
electrocardiographic screening in the newborn