Congenital Heart Disease Associated With Genetic Syndromes and Extracardiac Anomalies: A Six-Year Epidemiological Study in a Brazilian Referral Center.

Authors

Letícia Cordeiro Rodriguez, Nicole Lerner, Maria de Fátima Monteiro Pereira Leite, Carla Verona Barreto Farias, Michail Barmpas, Dulce Helena Gonçalves Orofino, Juan Clinton Llerena Junior

Published in

Birth defects research. Volume 118. Issue 8. Pages e70111.

Abstract

Congenital heart diseases (CHDs) are structural and/or functional abnormalities of the heart that arise during embryonic cardiovascular development. They are the most common type of congenital defect and represent a major cause of neonatal morbidity and mortality, particularly when associated with genetic syndromes or other congenital anomalies. This study aims to analyze the clinical and epidemiological profile of CHD in newborns at a high fetal-risk maternity hospital in Rio de Janeiro from 2018 to 2023, describing the types of CHD, associated anomalies and genetic syndromes, maternal risk factors, and neonatal outcomes.
This is a descriptive, retrospective study using the database of the Latin American Collaborative Study of Congenital Malformations (ECLAMC) at Instituto Fernandes Figueira/Fiocruz (IFF/Fiocruz). Newborns with a confirmed diagnosis of CHD, born at IFF between January 2018 and December 2023 and properly registered in the ECLAMC program were included.
Among 5647 births, 225 newborns with CHD were identified and analyzed, corresponding to a prevalence of approximately 4%. The most frequent CHD was ventricular septal defect (VSD), present in 68 cases, followed by atrioventricular septal defect (AVSD) in 41 cases and coarctation of the aorta (CoA) in 27. Complex cardiopathies predominated, representing 60% of cases. Most diagnoses were established prenatally (93.3%), with a fetal echocardiogram accuracy of 78.5%. Associated congenital anomalies were identified in 64% of cases, predominantly affecting the gastrointestinal tract, central nervous system, and genitourinary tract. Genetic syndromes were confirmed in 95 patients (42.2%), with a predominance of Down syndrome (35), followed by Edwards syndrome (29) and Patau syndrome (10). The rate of hospital discharge alive was 53.3% in patients with isolated CHD, compared to 29% in those with associated syndromes or anomalies.
IFF presents a highly complex patient profile, with a high prevalence of CHD associated with genetic syndromes and extracardiac anomalies, reflecting its role as a tertiary referral center. The presence of associated anomalies and syndromes negatively impacted neonatal prognosis, reinforcing the importance of prenatal diagnosis and specialized multidisciplinary care in the management of these conditions.

PMID:
42634104
Bibliographic data and abstract were imported from PubMed on 24 Aug 2026.

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