2D echocardiogram findings in neonates born with anorectal malformations in Sri Lanka

Introduction: Anorectal malformations occur with an incidence of approximately 1 in every 5000 live births. They are known to be associated with other anomalies especially cardiac anomalies which are more prevalent than general population. Cardiac anomalies affect the overall outcome of these patients.Objectives: To describe the 2D echocardiogram findings of neonates born with anorectal malformations (ARM), who were referred to the Lady Ridgeway Hospital, Sri Lanka (LRH) for paediatric surgical management.Method: A retrospective analysis of medical records of neonates with ARM who were referred to LRH between November 2015 and April 2019. Cardiac anomalies were categorized as major and minor according to their severity.Results: There was a total of 60 patients with the ARM: 48 with isolated ARM, 10 with ARM & oesophageal atresia (OA), 1 with ARM & duodenal atresia (DA) and 1 with ARM, OA & DA. The male to female ratio was 7:3. Associated congenital heart disease (CHD) was seen in 80% (n=48) of patients and it was commoner in patients with other associated gastrointestinal (GI) anomalies (92%) compared to patients with isolated ARM (77%).  The most common cardiac anomalies were combined atrial septal defect (ASD) & patent ductus arteriosus (PDA) (31.3%), followed by isolated ASD and isolated PDA (16.7% both). In those with cardiac defects, 89.6% (n=43) had minor cardiac defects. In-hospital mortality rate was 13.3% (n=8). All 5 patients with major cardiac defects died due to cardiac complications. Commonest extra-intestinal manifestations were genitourinary, followed by musculoskeletal anomalies. Conclusions: Majority of patients with ARM had associated minor cardiac anomalies, and their prevalence was higher in ARM associated with other GI anomalies compared to isolated ARMs. The commonest cardiac anomaly was combined ASD & PDA. All major cardiac anomalies in our cohort proved fatal.Sri Lanka Journal of Child Health, 2022; 51(4): 565-571