Anorectal malformations among children with congenital heart defects: Prevalence and clinical profile from a large Indian paediatric cardiac cohort

Introduction: Anorectal malformations (ARM) are frequently reported in children with congenital heart defect (CHD), but most existing studies have evaluated CHD among children with ARM. The prevalence and clinical profile of ARM within paediatric cardiac populations remain poorly characterized, particularly in India. We estimated the prevalence and described the clinical characteristics of ARM among children with CHD.

Methods: We retrospectively reviewed 26,511 consecutive children screened for CHD at a tertiary paediatric cardiac centre in India between July 2022 and June 2026. After predefined exclusions for non-Indian origin, non-CHD cardiac diagnoses, syndromic disorders, extracardiac anomalies other than ARM, family history of CHD, and assisted reproduction, 20,542 children with confirmed CHD constituted the analytic cohort. ARM was ascertained from clinical and/or surgical records. Prevalence was expressed per 10,000 children with CHD, with 95% confidence intervals. Analyses were performed using Epitools and SPSS.

Results: Forty-one children with CHD had ARM, corresponding to a prevalence of 19.9 per 10,000 (95% CI: 14.7–27.1). Prevalence was higher among children with cyanotic than acyanotic CHD (29.7 vs. 15.2 per 10,000; P = 0.032), whereas no significant difference was observed by sex (22.4 vs. 16.2 per 10,000; P = 0.333). Regional prevalence estimates were 21.5, 20.2, and 15.7 per 10,000 in northern, central, and eastern India, respectively. Tetralogy of Fallot (29.3%) and ventricular septal defect (24.4%) were the most frequent cardiac diagnoses. Growth impairment was prominent, with mean (SD) height-for-age, weight-for-age, and BMI-for-age z scores of −2.79 (2.52), −4.01 (2.69), and −2.80 (1.91), respectively; in addition, 56.1% had low birth weight, and 14.6% were preterm.

Conclusions: ARM occurred in approximately 2 per 1,000 children with CHD in this large Indian cardiac cohort. The higher prevalence observed among children with cyanotic CHD highlights the potential value of systematic ascertainment of associated congenital anomalies in paediatric cardiac care. Multicentre studies using standardized ARM classification and comprehensive congenital anomaly assessment are warranted to validate these findings and better characterise the CHD–ARM phenotype.