01 August 2009
Down's syndrome and the pattern of congenital heart disease in a community with high parental consanguinity
Abdullah Salem Al-JarallahMed Sci Monit 2009; 15(8): CR409-412 :: ID: 878139
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 and Method
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.
Keywords: Infant, Newborn, Heart Defects, Congenital - complications, Down Syndrome - complications, Parents, Consanguinity, Child, Preschool, Child, Residence Characteristics, Saudi Arabia
Editorial
01 July 2022 : Editorial
Editorial: World Health Organization (WHO) Variants of Concern Lineages Under Monitoring (VOC-LUM) in Response to the Global Spread of Lineages and Sublineages of Omicron, or B.1.1.529, SARS-CoV-2DOI: 10.12659/MSM.937676
Med Sci Monit 2022; 28:e937676
SARS-CoV-2/COVID-19
27 June 2022 : Clinical Research
Shoulder Injury Related to Vaccine Administration (SIRVA) in 16 Patients Following COVID-19 Vaccination Who...Med Sci Monit In Press; DOI: 10.12659/MSM.937430
04 June 2022 : Clinical Research
Screening for SARS-CoV-2 Infection in Students at the Medical University of Warsaw, Poland Between November...Med Sci Monit 2022; 28:e936962
30 May 2022 : Clinical Research
Effects of Wearing Face Masks on Exercise Capacity and Ventilatory Anaerobic Threshold in Healthy Subjects ...Med Sci Monit 2022; 28:e936069
27 May 2022 : Clinical Research
Factors Associated with Falls During Hospitalization for Coronavirus Disease 2019 (COVID-19)Med Sci Monit 2022; 28:e936547
In Press
01 Jul 2022 : Clinical Research
Does Early-Period Patient Dissatisfaction Turn Into Satisfaction Over Time After Total Knee Replacement?Med Sci Monit In Press; DOI: 10.12659/MSM.936792
30 Jun 2022 : Laboratory Research
Bcl-2 19-kDa Interacting Protein 3 (BNIP3)-Mediated Mitophagy Attenuates Intermittent Hypoxia-Induced Human...Med Sci Monit In Press; DOI: 10.12659/MSM.936760
30 Jun 2022 : Clinical Research
Antioxidant System and Ions Concentrations After Femoral Neck and Resurfacing Hip ArthroplastyMed Sci Monit In Press; DOI: 10.12659/MSM.936335
28 Jun 2022 : Meta-Analysis
Urodynamics in Early Diagnosis of Diabetic Bladder Dysfunction in Women: A Systematic Review and Meta-AnalysisMed Sci Monit In Press; DOI: 10.12659/MSM.937166
Most Viewed Current Articles
30 Dec 2021 : Clinical Research
Retrospective Study of Outcomes and Hospitalization Rates of Patients in Italy with a Confirmed Diagnosis o...DOI :10.12659/MSM.935379
Med Sci Monit 2021; 27:e935379
08 Mar 2022 : Review article
A Review of the Potential Roles of Antioxidant and Anti-Inflammatory Pharmacological Approaches for the Man...DOI :10.12659/MSM.936292
Med Sci Monit 2022; 28:e936292
13 Nov 2021 : Clinical Research
Acceptance of COVID-19 Vaccination and Its Associated Factors Among Cancer Patients Attending the Oncology ...DOI :10.12659/MSM.932788
Med Sci Monit 2021; 27:e932788
01 Nov 2020 : Review article
Long-Term Respiratory and Neurological Sequelae of COVID-19DOI :10.12659/MSM.928996
Med Sci Monit 2020; 26:e928996