Congenital heart disease associated with the most prevalent chromosomal syndromes: a literature review

Most frequent chromosomal syndromes like Down, Patau, Edwards, Turner, and Williams affect the pediatric population in various ways, and congenital heart disease explains the altered quality of life they suffer. There is a lack of studies reviewing the cardiac anomalies in these syndromes, and the o...

Descripción completa

Detalles Bibliográficos
Autores: Castillo Lam, José Eduardo, Elías Adauto, Oscar Eduardo, Huamán Benancio, Gian Paolo
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2021
País:Perú
Institución:Instituto Nacional Cardiovascular
Repositorio:Archivos peruanos de cardiología y cirugía cardiovascular
Idioma:español
inglés
OAI Identifier:oai:apcyccv.org.pe:article/155
Acceso en línea:https://apcyccv.org.pe/index.php/apccc/article/view/155
Access Level:acceso abierto
Palabra clave:Cardiopatías Congénitas
Síndrome de Down
Síndrome de la trisomía 13
Síndrome de la trisomía 18
Síndrome de Turner
Síndrome de Williams
Heart defects congenital
Down syndrome
Trisomy 13 syndrome
Trisomy 18 syndrome
Turner syndrome
Williams syndrome
Descripción
Sumario:Most frequent chromosomal syndromes like Down, Patau, Edwards, Turner, and Williams affect the pediatric population in various ways, and congenital heart disease explains the altered quality of life they suffer. There is a lack of studies reviewing the cardiac anomalies in these syndromes, and the ones that exist are publications from past decades. We reviewed databases such as MEDLINE, LILACS, SCIELO, and Google Scholar, selecting the best possible evidence, and each chromosomal syndrome was investigated in relation to congenital heart disease, constituting five search groups. The article shows the characteristics of each heart disease described in the studies reviewed, the author, date of publication, country, and population studied, as well as a brief description of the frequency of the disease and its mortality. The results described in this review were contrasted with previous existing literature to verify if there was correspondence between the reported frequencies. The most frequent congenital heart diseases were atrioventricular septal defect (AVSD), ventricular septal defect (VSD), atrial septal defect (ASD), and persistent ductus arteriosus (PDA) in Down syndrome patients, PDA, ASD, and VSD in Patau syndrome patients, AVSD, PDA and valvular defects in Edwards syndrome, bicuspid aortic valve, aortic coarctation and aortic stenosis in Turner syndrome, and supravalvular aortic stenosis and pulmonary stenosis in Williams syndrome.