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

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