2026-04-17T08:05:46Zhttps://recercat.cat/oai/request

oai:recercat.cat:10256/129342024-05-22T11:10:18Zcom_2072_452966com_2072_2054col_2072_452968

2024-05-22T11:10:18Z urn:hdl:10256/12934 Prevalence of QTc alterations in neonates: age and genetic determinants: end of term project Teixidor Camps, Mariona Síndrome de QT llarg Long QT syndrome Síndrome de la mort sobtada de l'infant Sudden infant death syndrome Genètica Genetics Infants nadons -- Malalties Infants (Newborn) -- Diseases Arítmia Arrhythmia 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 Déu 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 2024-05-22T11:10:18Z 2024-05-22T11:10:18Z 2016-01 info:eu-repo/semantics/bachelorThesis http://hdl.handle.net/10256/12934 Attribution-NonCommercial-NoDerivs 3.0 Spain http://creativecommons.org/licenses/by-nc-nd/3.0/es/ info:eu-repo/semantics/openAccess east=2.102141999999958; north=41.38424; name=Hospital Sant Joan de Déu Barcelona Medicina (TFG)