Congenital heart defects among Down syndrome patients: a clinical profiling

Aim The incidence of Down syndrome (DS) has been estimated one case in 814 live births in Iranian population. Congenital heart defects (CHDs) are a major cause of morbidity and mortality in DS patients ranges from 40 to 60 %. To the author’s knowledge, there is no data available for the prevalence and types of CHD in patients with DS in south of Iran. Accordingly, this study aimed to determine the prevalence of CHD among DS patients, and to evaluate the 14 clinical features in DS patients with and without CHD. Subjects and methods In the current study, a total of 110 patients diagnosed with DS (55 individuals with CHD and 55 without CHD) were included after postnatal cytogenetic analysis. The demographic and clinical features of all subjects were collected using a precodified questionnaire and clinical examination and then were analyzed using SPSS software. Results We found that the atrial septal defect (ASD) was the most common defect accounting for 41.82 % of DS followed by patent ductus arteriosis (PDA) (20 %), ventricular septal defect (VSD; 14.54 %), atrioventricular septal defect (AVSD; 12.73 %) and tetralogy of fallot (TOF; 10.91 %) in our population. Indeed, our results showed that pulmonary hypertension and low set ear clinical manifestations were significantly associated with CHD in DS patients ( P