Associated congenital heart disease with Hirschsprung's disease: a retrospective cohort study on 2,174 children

Frontiers in Cardiovascular Medicine

Cardiovascular Medicine

Yujian Wu¹  Xu Zhang¹  Jinqing Feng²  Jia Li²  Yun Zhu³  Yan Zhang³  Huimin Xia³ 

[1] Department of Pediatric Cardiology, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China;Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China;Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China;Clinical Physiology Laboratory, Research Institute of Pediatrics, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China;Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China;Department of Pediatric Surgery, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, China;

关键词: Hirschsprung’s disease;    congenital heart disease;    chromosomal abnormality;    complete atrioventricular canal;    congenitally corrected transposition of the great arteries;    double-outlet of right ventricle;   

DOI  :  10.3389/fcvm.2023.1215473

 received in 2023-05-02, accepted in 2023-07-31,  发布年份 2023

来源: Frontiers

【 摘 要 】

ObjectiveTo examine the incidence and phenotypes of congenital heart disease (CHD) in a large cohort of patients with Hirschsprung's disease (HSCR).Study designRetrospective data review of children with HSCR between 2003 and 2020 was conducted at the Provincial Key Laboratory for Structural Birth Defects in Guangzhou, Guangdong, China. HSCR was confirmed by pathological diagnosis. CHD was defined as a gross structural abnormality of the heart or intrathoracic great vessels that is of functional significance.ResultsA total of 2,174 HSCR patients (84.7% males) were studied and 306 of them underwent echocardiography. Overall, 27 children (1.2%) had associated CHD. Among them, CHDs mostly presented as atrial and ventricular septal defects (n = 5 and 12 respectively) and patent ductus arteriosus (n = 4). Three patients (1.4‰) presented as a severe CHD including complete atrioventricular canal, congenitally corrected transposition of the great arteries and double-outlet of right ventricle. Among 14 patients carrying a chromosomal abnormality, CHD was detected in 4 infants (28.6%), all being mild forms of septal defects.ConclusionsSome new and severe types of CHD were found in patients with HSCR. Patients with syndromic features had higher incidence of CHD.

【 授权许可】

Unknown   
© 2023 Wu, Zhu, Zhang, Feng, Xia, Zhang and Li.