UNLABELLED BACGROUND/AIM. Congenital heart defects (CHDs) are structural or functional abnormalities of the heart present at birth even if they are detected much later. Their importance lies in the fact that, depending on the severity, they change the quality of life, and may be life threating. In addition, we should not ignore the high costs of treating people with congenital heart disease. Th...

Yuan SM. Congenital heart defects in Williams syndrome. Turk J Pediatr 2017; 59: 225-232. Williams syndrome (WS), also known as Williams-Beuren syndrome, is a rare genetic disorder involving multiple systems including the circulatory system. However, the etiologies of the associated congenital heart defects in WS patients have not been sufficiently elucidated and represent therapeutic challenge...

holt-oram syndrome (hos) is a developmental disorder inherited in an autosomal-dominant pattern. affected organs are the heart and forelimbs with upper extremity skeletal defects and congenital heart malformation. in this study we present three cases of hos in the same family. in one of these three individuals we detected a transition of c to t (ctg-gtt, v205v) in exon 7 of the tbx5 gene. this ...

The present study of 47 necropsy cases of congenital heart disease has revealed that cardiac defects occur as frequently in the African as in the non-African. The types of congenital heart disease and the associated non-cardiac malformations are similar to what has been described in non-Africans. Tetrad of Fallot was the commonest type of multiple defect and ventricular septal defect the most c...

background pulmonary artery banding (pab) is a technique of palliative surgical therapy used by congenital heart surgeons as a staged approach to operative correction of congenital heart defects. materials and methods we report 5- year experiences from january 2011 to january 2016 of imam reza hospital center (a tertiary referral hospital in mashhad city, north east of iran) that consist of 50 ...

BACKGROUND Congenital heart diseases cause significant childhood morbidity and mortality. Several restricted studies have been conducted on the epidemiology in Nigeria. No truly nationwide data on patterns of congenital heart disease exists. OBJECTIVES To determine the patterns of congenital heart disease in children in Nigeria and examine trends in the occurrence of individual defects across...

BACKGROUND Women who have had pregnancies that were affected by nonsyndromic congenital heart defects have alterations in the homocysteine-methionine pathway that may indicate increased exposure to oxidative stress or reduced antioxidant defense or both. OBJECTIVE Our goal was to establish a maternal metabolic risk profile for nonsyndromic congenital heart defects that would enhance current p...

Congenital heart defects represent the most common malformation at birth, occurring also in ∼50% of individuals with Down syndrome. Congenital heart defects are thought to have multifactorial etiology, but the main causes are largely unknown. We have explored the global methylation profile of fetal heart DNA in comparison to blood DNA from control subjects: an absolute correlation with the type...

A Univentricular Heart (UVH) is a rare congenital heart malformation. Prognosis without surgical intervention is considered to be poor and survival into the adulthood is unusual (1, 2). Its incidence being 1% to 4.3% of all congenital heart defects. Here we reported this rare congenital heart defect; hence it was worth reporting this interesting case.