The distribution and frequency of congenital heart disease in patients with known syndromes or non-specific dysmorphic features at Charlotte Maxeke Johannesburg Academic Hospital from 2010 to 2020

Abstract

Background Congenital heart disease (CHD) is the most common birth defect globally, with approximately a third of cases having a genetic cause. However, there is paucity of South African data. A description of CHD associations in syndromic and dysmorphic patients follows. Methods A retrospective analysis of patient records at a Johannesburg tertiary hospital from 2010- 2020, which included patients with dysmorphism, genetic syndromes or major congenital abnormalities, aged birth to 16 years. Results Among 1024 participants, CHD was diagnosed in 37%(n=379), mostly acyanotic (82%). Predominant lesions were ventricular septal defect (31%, n=117) and atrioventricular septal defect (25%, n=93). Median age at diagnosis of CHD was 41 days. Genetic syndromes were diagnosed clinically or using molecular techniques, in 48%(n=493) of participants, predominantly trisomy 21 (27%, n=280). CHD was most frequent in trisomy 18 (94%). Documented deaths accounted for 7% (n=71) of the cohort, highest in cyanotic CHD. Conclusion This study shows a high incidence of CHD in children with syndromes, dysmorphism or isolated major congenital abnormalities, highlighting the need for CHD screening in these patients.