Prevalence of Extracardiac Anomalies in Patients With Congenital Heart Defects

Abstract

Background: Various extracardiac disorders are associated with congenital heart defect (CHD) at varying prevalence rates (7-50). - 50). Over the years, numerous studies worldwide have investigated these associations. This study aimed to examine the prevalence of extracardiac anomalies in children with CHD in Isfahan, one of Iran's largest cities. Methods: This cross-sectional study was conducted in Isfahan, Iran, from 2020 through 2022, involving 750 infants under 1 year old diagnosed with CHD. Pediatric cardiologists performed echocardiography to evaluate the cardiovascular system and detect CHD. Most participants were referred for cardiac examinations due to abnormalities detected during physical examinations of skin, cerebral, spinal cord, abdominal, and urinary tract regions. Patients exhibiting signs of a syndromic disorder were also referred for CHD evaluation. Results: Out of 750 infants with confirmed CHD, 241 (32.13) presented at least 1 extracardiac malformation. Ninety (37.7) had craniofacial malformations, with 66.7 having cleft palate with or without cleft lip. Forty-eight patients (19.9) had genetic syndromes, most commonly Down syndrome (56.5), and 46 (19.8) had gastrointestinal abnormalities, including intestinal or esophageal atresia. Conclusions: The prevalence of extracardiac anomalies in patients with CHD is significant, and these patients are at an increased risk of mortality and morbidity throughout their lives. Implementing a screening program could effectively prevent further complications associated with the late diagnosis of these anomalies. (Iranian Heart Journal 2024; 25(3): 6-12)