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

IF 2 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research Pub Date : 2026-08-23 DOI:10.1002/bdr2.70111

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

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引用次数: 0

Abstract

Background

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.

Methods

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.

Results

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.

Conclusions

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.

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先天性心脏病与遗传综合征和心外异常相关：巴西转诊中心6年流行病学研究

背景：先天性心脏病（CHDs）是在胚胎期心血管发育过程中出现的心脏结构和/或功能异常。它们是最常见的先天性缺陷类型，是新生儿发病和死亡的主要原因，特别是当与遗传综合征或其他先天性异常有关时。本研究旨在分析2018年至2023年巴西里约热内卢一家高危妇产医院新生儿冠心病的临床和流行病学概况，描述冠心病的类型、相关异常和遗传综合征、孕产妇危险因素和新生儿结局。方法：使用Fernandes Figueira/Fiocruz研究所（IFF/Fiocruz）拉丁美洲先天性畸形合作研究（ECLAMC）数据库进行描述性、回顾性研究。在2018年1月至2023年12月期间在IFF出生并在ECLAMC计划中正确登记的确诊为冠心病的新生儿被纳入。结果：在5647例新生儿中，225例新生儿患有冠心病，患病率约为4%。最常见的冠心病是室间隔缺损（VSD）， 68例，其次是房室间隔缺损（AVSD） 41例，主动脉缩窄（CoA） 27例。复杂心脏病占主导，占60%的病例。大多数诊断是在产前确定的（93.3%），胎儿超声心动图准确率为78.5%。在64%的病例中发现了相关的先天性异常，主要影响胃肠道、中枢神经系统和泌尿生殖系统。确诊遗传综合征95例（42.2%），其中以唐氏综合征（35例）居多，其次为爱德华兹综合征（29例）和Patau综合征（10例）。孤立性冠心病患者的出院存活率为53.3%，而伴有相关综合征或异常的患者为29%。结论：IFF呈现出高度复杂的患者概况，与遗传综合征和心外异常相关的冠心病患病率很高，反映了其作为三级转诊中心的作用。相关异常和综合征的存在对新生儿预后有负面影响，加强了产前诊断和专业多学科护理在这些疾病管理中的重要性。

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来源期刊

Birth Defects Research Medicine-Embryology

CiteScore

3.60

自引率

9.50%

发文量

153

期刊介绍： The journal Birth Defects Research publishes original research and reviews in areas related to the etiology of adverse developmental and reproductive outcome. In particular the journal is devoted to the publication of original scientific research that contributes to the understanding of the biology of embryonic development and the prenatal causative factors and mechanisms leading to adverse pregnancy outcomes, namely structural and functional birth defects, pregnancy loss, postnatal functional defects in the human population, and to the identification of prenatal factors and biological mechanisms that reduce these risks. Adverse reproductive and developmental outcomes may have genetic, environmental, nutritional or epigenetic causes. Accordingly, the journal Birth Defects Research takes an integrated, multidisciplinary approach in its organization and publication strategy. The journal Birth Defects Research contains separate sections for clinical and molecular teratology, developmental and reproductive toxicology, and reviews in developmental biology to acknowledge and accommodate the integrative nature of research in this field. Each section has a dedicated editor who is a leader in his/her field and who has full editorial authority in his/her area.