Background Congenital heart disease (CHD) is the most

Background Congenital heart disease (CHD) is frequently cited as the main cause of death in the pediatric Down syndrome (DS) population. The prevalence and spectrum of CHD patterns in DS varies widely worldwide; this variation could be due to sociodemographic, genetic, and/or geographic factors. Objective To verify the prevalence, pattern, and frequency distribution of CHD in children with Down syndrome. Methods A three-year retrospective study was conducted in children aged 0-14 years with Down syndrome who underwent echocardiography for possible CHD from January 2014 to December 2016, based on the Pediatric Unit CHD Registry of the Cardiac Research Institute, Kabul Medical University. Clinical, echocardiographic, and outcome data were collected and sorted according to confirmation of the syndrome and echocardiography result.  Results During the three-year study period, 420 DS patients were identified, 286 (68%) of whom had CHDs. The prevalence of isolated and multiple CHD in the 420 children with DS were 38% (160 patients) and 30% (126 patients), respectively. Ventricular septal defect (23%) and atrial septal defect (16.4%) were the most common isolated defects. The combination of VSD and ASD (19.9%) were the most frequent multiple CHDs. The most common associations of CHD were VSD + ASD (19.9%) and VSD + PDA (9%).    Conclusion A high prevalence of CHDs was noted in children with Down syndrome. VSD and ASD are the most commonly diagnosed isolated CHDs in our study. ASD + VSD is the most common multiple CHD pairing.  To our knowledge, this is the first extensive study in Afghanistan to demonstrate the pattern and prevalence of CHD associated with Down syndrome.

Abstract Background: It seems that parents’ consanguinity status effects the pattern of congenital heart defects (CHDs). In this study the CHD pattern in children with Down’s syndrome (DS) was determined in Afghanistan’s children population with a high consanguineous marriage rate and compared with historical cohorts from populations with low prevalence of parental consanguinity. Objective: This analytic cross sectional study aimed to determine the frequency and distribution of CHDs in Afghanistan children with Down’s Syndrome as a group in a community with a high consanguineous marriage rate and comparing these with different global studies and populations with low prevalence of consanguinity. Methods: This analytic cross sectional study was conducted in a pediatric teaching hospital in Kabul city - Afghanistan, named Maiwand Hospital. The subjects were all children with DS proven by clinical and cytogenetic study and referred to the pediatric cardiology service from September 2018–September 2020. Parents’ consanguinity was documented and 2D echocardiography and Doppler studies were performed by two experienced pediatric cardiologists after physical examination, ECG, and chest X-ray for each patient. Results: During the two-year study period, 120 DS patients were identified, 78 (65%) of whom had CHDs. The prevalence of isolated and multiple CHD in the 78 children with DS were 35% (42 patients) and 30% (36 patients), respectively. Ventricular septal defect (20.5%) and atrial septal defect (15.3%) were the most common isolated defects. The combination of VSD and PDA (20.5%) were the most frequent multiple CHDs. The most com­mon associations of CHD were VSD + PDA (20.5%) and VSD + ASD (10.2%). Consanguinity was found in 69.2 % of all parents. Conclusions: A higher frequency of CHD was documented in DS children from this population with a high consanguineous marriage rate. The frequencies of specific lesions were almost similar to those reported locally and internationally; VSD was the most frequently detected in this study. Interesting was the predominance of left-right shunt lesions and the relative rarity of cyanotic and complex CHD in this DS population. key words: congenital heart disease, atrioventricular septal defect, Down’s syndrome, trisomy 21, Afghanistan