Abdullah Salem Al-Jarallah1. 1. Division of Pediatric Cardiology, Department of Pediatrics, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Abstract
BACKGROUND: It is speculated 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 a Saudi population with a high consanguineous marriage rate and compared with historical cohorts from populations with low prevalence of parental consanguinity. MATERIAL/ METHODS: The prospective study was conducted in an open-access pediatric echocardiography clinic in Riyadh, Saudi Arabia. The subjects were all children with DS proven by clinical and cytogenetic study and referred to the pediatric cardiology service from 2001-2004. Parents' consanguinity was documented and 2D echocardiography and Doppler studies were performed after physical examination, ECG, and chest X-ray for each patient. RESULTS: CHDs were detected in 54/110 (49%) children. These included ventricular septal defect (VSD: 23/54), patent ductus arteriosus (PDA: 4/54), secundum atrial septal defect (ASD: 14/54), atrioventricular septal defect (AVSD: 8/54), tetralogy of Fallot (2/54), bicuspid aortic valve (1/54), supra-pulmonary stenosis (1/54), and double outlet right ventricle (1/54). Consanguinity was found in 25% of all parents. Aortic stenosis, coarctation of the aorta, transposition of great arteries, and complex heart diseases were not detected. CONCLUSIONS: A slightly higher frequency of CHD was documented in DS children from this population with a high consanguineous marriage rate. The frequencies of specific lesions were 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.
BACKGROUND: It is speculated 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 a Saudi population with a high consanguineous marriage rate and compared with historical cohorts from populations with low prevalence of parental consanguinity. MATERIAL/ METHODS: The prospective study was conducted in an open-access pediatric echocardiography clinic in Riyadh, Saudi Arabia. The subjects were all children with DS proven by clinical and cytogenetic study and referred to the pediatric cardiology service from 2001-2004. Parents' consanguinity was documented and 2D echocardiography and Doppler studies were performed after physical examination, ECG, and chest X-ray for each patient. RESULTS: CHDs were detected in 54/110 (49%) children. These included ventricular septal defect (VSD: 23/54), patent ductus arteriosus (PDA: 4/54), secundum atrial septal defect (ASD: 14/54), atrioventricular septal defect (AVSD: 8/54), tetralogy of Fallot (2/54), bicuspid aortic valve (1/54), supra-pulmonary stenosis (1/54), and double outlet right ventricle (1/54). Consanguinity was found in 25% of all parents. Aortic stenosis, coarctation of the aorta, transposition of great arteries, and complex heart diseases were not detected. CONCLUSIONS: A slightly higher frequency of CHD was documented in DS children from this population with a high consanguineous marriage rate. The frequencies of specific lesions were 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.
Authors: Vladimir Tonello de Vasconcelos; Ruy Guilherme Rodrigues Cal; Adriano Luís Gomes; Simone Aguiar; Maria Fernanda Carvalho de Camargo; José Carlos Costa Baptista-Silva Journal: J Vasc Surg Cases Date: 2015-06-19
Authors: Mohamed M Morsy; Osama O Algrigri; Sherif S Salem; Mostafa M Abosedera; Ashraf R Abutaleb; Khaled M Al-Harbi; Ibrahim S Al-Mozainy; Abdulhameed A Alnajjar; Abdelhadi M Habeb; Hany M Abo-Haded Journal: Saudi Med J Date: 2016-07 Impact factor: 1.484