RT journal article
T1 Personalized Genetic Diagnosis of Congenital Heart Defects in Newborns
A1 Diz, Olga María
A1 Toro Cebada, Rocío
A1 Cesar, Sergi
A1 Gomez, Olga
A1 Sarquella-Brugada, Georgia
A1 Campuzano, Oscar
A2 Medicina
K1 cardiology
K1 pediatrics
K1 congenital heart disease
K1 genetics
AB Congenital heart disease is a group of pathologies characterized by structural malformations of the heart or great vessels. These alterations occur during the embryonic period and are the most frequently observed severe congenital malformations, the main cause of neonatal mortality due to malformation, and the second most frequent congenital malformations overall after malformations of the central nervous system. The severity of different types of congenital heart disease varies depending on the combination of associated anatomical defects. The causes of these malformations are usually considered multifactorial, but genetic variants play a key role. Currently, use of high-throughput genetic technologies allows identification of pathogenic aneuploidies, deletions/duplications of large segments, as well as rare single nucleotide variants. The high incidence of congenital heart disease as well as the associated complications makes it necessary to establish a diagnosis as early as possible to adopt the most appropriate measures in a personalized approach. In this review, we provide an exhaustive update of the genetic bases of the most frequent congenital heart diseases as well as other syndromes associated with congenital heart defects, and how genetic data can be translated to clinical practice in a personalized approach.
PB MDPI
SN 2075-4426
YR 2021
FD 2021-06
LK http://hdl.handle.net/10498/25531
UL http://hdl.handle.net/10498/25531
LA eng
NO This work was supported by Obra Social "La Caixa Foundation" (LCF/PR/GN16/50290001, and LCF/PR/GN19/50320002). Funders had no role in study design, data collection, data analysis, interpretation, or writing of the report.
DS Repositorio Institucional de la Universidad de Cádiz
RD 13-nov-2026