Abstract
BackgroundCongenital heart diseases (CHDs) are abnormalities that present in the heart since birth and are one of the leading causes of infant mortality in the world. CHDs are more common among children with dysmorphic syndromes. The current study aims to estimate the prevalence of many CHDs in different dysmorphic syndromes.MethodsThis was a retrospective chart review study conducted on all dysmorphic syndrome patients who attended genetic clinics at King Khalid National Guard Hospital in King Abdulaziz Medical City (KAMC), Jeddah, Saudi Arabia from 2005 to 2016. Dysmorphic pediatric patients less than 14 years old who had genetic testing to confirm their diagnosis were included in the study. Patients who did not have any previous echocardiography were excluded.ResultsA total of 212 individuals (47% males and 53% females) were included. Eighty-five percent of Down syndrome patients had CHDs, and the most common CHD was an atrial septal defect (ASD) (51%). In patients with Turner syndrome, 45% of them had CHDs, and bicuspid aortic valve (BAV) (40%) was the most common defect. In DiGeorge syndrome, 81% of patients had CHDs, and ventricular septal defect (VSD) (41%) was the most common. In Williams syndrome, 83% of patients had CHDs. All patients with Noonan, Edwards, CHARGE (coloboma, heart defects, atresia choanae (also known as choanal atresia), growth retardation, genital abnormalities, and ear abnormalities), and Rubinstein-Taybi syndromes were found to have CHDs. In Patau syndrome and Joubert syndrome, 50% of patients in each had CHDs. Patients with Prader Willi syndrome had normal findings in the echocardiogram.ConclusionThe highest prevalence of CHDs was found in Down syndrome. This study has a significant impact on the future of managing and directing the resources to improve the quality of life for syndromic patients. Further studies are needed to confirm these findings and to increase the local data in the field of CHDs in Saudi Arabia among syndromic patients.
Highlights
Congenital heart disease (CHD) is an abnormality that is present in the heart since birth which includes structural walls, valves, and major blood vessels of the heart, and it can be detected by echocardiography [1]
There are many CHDs that can be detected in pediatric patients, like atrial septal defect (ASD), ventricular septal defect (VSD), atrioventricular septal defect (AVSD), patent ductus arteriosus (PDA), tetralogy of Fallot (TOF), bicuspid aortic valve (BAV), coarctation of the aorta (CoA), and others
We found that 68 patients (28%) had an atrial septal defect (ASD), 62 patients (25.5%) had patent ductus arteriosus (PDA), 41 patients (16.9%) had a ventricular septal defect (VSD), 21 patients (8.6%) arterial vascular septal defect (AVSD), 10 patients (4.1%) tetralogy of Fallot (ToF), five patients (2.1%) had coarctation of the aorta (CoA), four patients (1.6%) had bicuspid aortic valve (BAV), and 32 patients (13.2%) had other CHDs which included tricuspid regurgitation, pulmonary artery stenosis, mitral regurgitation, thickened mitral valve, aneurysmal atrial septum, aortic regurgitation, mitral valve prolapse, dilated left coronary artery, supra-aortic stenosis, narrow aortic arch, atrioventricular valve regurgitation, dilated pulmonary valve, pulmonary artery stenosis, atrial aneurysm, vertical vein to superior vena cava, and tortuous aortic arch with distal narrowing
Summary
Congenital heart disease (CHD) is an abnormality that is present in the heart since birth which includes structural walls, valves, and major blood vessels of the heart, and it can be detected by echocardiography [1]. CHD affects the lives of approximately eight in 1,000 newborns daily and is one of the leading causes of infant mortality in the world [2]. In Saudi Arabia, the rate of CHD is high It affects approximately 11 in 1,000 newborns daily due to some factors, such as consanguinity, certain dysmorphic syndromes, and other significant risk factors [3]. Congenital heart diseases (CHDs) are abnormalities that present in the heart since birth and are one of the leading causes of infant mortality in the world. The current study aims to estimate the prevalence of many CHDs in different dysmorphic syndromes
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