Related Experiment Video
Updated: Jul 18, 2025
Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
Published on: April 26, 2019
Associated congenital heart disease with Hirschsprung's disease: a retrospective cohort study on 2,174 children
Yujian Wu1,2, Yun Zhu2,3, Xu Zhang1,2
1Department of Pediatric Cardiology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Insights
Congenital heart disease (CHD) affects 1.2% of patients with Hirschsprung
Area of Science:
- Pediatric Cardiology
- Gastroenterology
- Medical Genetics
Background:
- Hirschsprung's disease (HSCR) is a congenital condition affecting the large intestine.
- Congenital heart disease (CHD) is a common birth defect.
- The co-occurrence of HSCR and CHD warrants further investigation.
Purpose of the Study:
- To determine the incidence and types of congenital heart disease (CHD) in a large cohort of patients diagnosed with Hirschsprung's disease (HSCR).
Main Methods:
- Retrospective data review of 2,174 HSCR patients (2003-2020).
- Pathological confirmation of HSCR.
- Echocardiography used to identify CHD in 306 patients.
- Definition of CHD as a functionally significant structural heart abnormality.
Main Results:
- Overall incidence of CHD in HSCR patients was 1.2% (27/2,174).
- Common CHDs included atrial septal defects (n=5), ventricular septal defects (n=12), and patent ductus arteriosus (n=4).
- Severe CHDs (e.g., complete atrioventricular canal) occurred in 1.4‰ of patients.
- CHD incidence was higher (28.6%) in HSCR patients with chromosomal abnormalities, primarily mild septal defects.
Conclusions:
- A notable incidence of CHD exists in HSCR patients, including rare and severe forms.
- Syndromic features in HSCR patients are associated with a higher prevalence of CHD.
- Early screening for CHD in HSCR patients, especially those with syndromic features, is recommended.
Objective:
To examine the incidence and phenotypes of congenital heart disease (CHD) in a large cohort of patients with Hirschsprung's disease (HSCR).
Study Design:
Retrospective 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.
Results:
A 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.
Conclusions:
Some new and severe types of CHD were found in patients with HSCR. Patients with syndromic features had higher incidence of CHD.
