Clinical study of external dysmorphism in congenital heart disease

Abstract

Background: To study the clinical profile and dysmorphism associated in patients presenting to tertiary referral hospital with congenital heart disease (CHD). Materials and Methods: This prospective study was conducted in the Pediatric Cardiology Unit of Sri Jayadeva Institute of Cardiovascular Sciences, Bengaluru, between March 2013 and February 2015. Study subjects include children referred for investigation of suspected heart disease to the Pediatric Cardiology OPD during the study period. Children found to have some type of CHDs were included in the study. All recruited subjects were examined and worked up at outpatient follow-up clinics. Results: A total of 450 subjects were found to have CHDs; out of these, 183 (40.6%) were male and 267 (59.4%) were female. Mean age was 3.34 years (range - 4 days to 24 years) and mean weight was 11.15 kg (range - 2-60 kg). History of maternal diseases and intake of drugs during pregnancy was present in 99 (22%) cases (Odds ratio [OR]=7.4, p=0.0090) and maternal fever in 59 (15%) cases (OR=6.5, p<0.0001). Distribution of CHD cases includes cyanotic CHD in 162 (36%) cases, obstructive lesions in 111 (24.6%), and left to right shunt lesions in 288 (64%) cases. 79.4% cases have shown external dysmorphic features, and main dysmorphic features associated with CHDs were eye anomalies, ear anomalies, upturned nose, clinodactyly, and chest deformity. Conclusion: Eye and ear anomalies, clinodactyly, and chest deformity were the dysmorphic features significantly associated with CHDs. Consanguinity was found to be linked to CHD. Maternal drug intakes and maternal fever during pregnancy also have bearing on CHDs.