Parental consanguinity and congenital heart defects in Afghan children with Down's syndrome.

Autor: Sharifi, Abdul Muhib, Jalal, Said Najmuddin, Sediqi, Mohammad Sharif, Ibrahimi, Mohammad Akbar, Sharifi, Abdul Wali
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Zdroj: Paediatrica Indonesiana; Nov2021, Vol. 61 Issue 6, p306-310, 5p
Abstrakt: Background Parental consanguinity affects the pattern of congenital heart defects (CHDs). The association between Down's syndrome (DS) and congenital heart defects has long been known. Parental consanguinity may affect the pattern of CHDs. Some communities in Afghanistan have a high consanguineous marriage rate, possible affecting the types of CHDs in children with DS. Objective To determine the frequency and distribution of CHDs in children with Down's syndrome in Afghanistan, where the community had a high consanguineous marriage rate. Methods This prospective cross-sectional study was conducted in Maiwand Hospital, a pediatric teaching hospital in Kabul, Afghanistan. Subjects were children with DS shown by clinical and cytogenetic studies, and referred to the Pediatric Cardiology Service from September 2018 - September 2020. Parental consanguinity was documented. Subjects underwent 2D echocardiography and Doppler studies performed by two experienced pediatric cardiologists after physical examination, ECG, and chest X-ray. Results During the two-year study period, 120 DS patients were identified, 78 (65%) of whom had CHDs. The prevalences of isolated and multiple CHD in the 78 children with DS were 35.8% (43 patients) and 29.1% (35 patients), respectively. The most common isolated defects were ventricular septal defect (21.7%) and atrial septal defect (15.3%). The most com-mon CHD associations were VSD + PDA (20.5%) and VSD + ASD (10.2%). Consanguinity was found in 69.2% of all parents. Conclusion A higher frequency of CHD is documented in DS children from parents with a high consanguineous marriage rate. The frequencies of specific lesions are similar to those reported locally and internationally; VSD is the most frequently detected in our study. The predominance of left-right shunt lesions and the relative rarity of cyanotic and complex CHD are notable in this DS population. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index