INTRODUCTION Congenital heart defects are the most common congenital anomalies and occur with an incidence from 0.8 to 1% per 1000 live births. In recent years, the pulse oximetry has become a strong candidate for detecting cyanogen congenital heart defects and in combination with routine clinical exam can improve diagnostic of congenital heart diseases. OBJECTIVE To apply the modern algorith...

BACKGROUND Loss-of-function mutations in CHD7 cause Coloboma, Heart Disease, Atresia of Choanae, Retardation of Growth and/or Development, Genital Hypoplasia, and Ear Abnormalities With or Without Deafness (CHARGE) syndrome, a variable combination of multiple congenital malformations including heart defects. Heart defects are reported in 70% to 92% of patients with a CHD7 mutation, but most stu...

In patients with pulmonary hypertension associated with congenital heart defects, ultrastructural abnormalities are observed in endothelial cells, which suggest heightened metabolic function. If endothelial production of the von Willebrand factor (vWF) is increased, this may be associated with abnormal interactions with platelets leading to worsening of the pulmonary hypertension. We therefore ...

BACKGROUND As a result of antenatal screening, abortion of fetuses with Down syndrome has become increasingly common. Little is known about the cardiovascular phenotype in infants with Down syndrome born today. METHODS Population-based cohort study based on national health registers including 2588 infants with Down syndrome, live-born in Sweden from 1992 to 2012. Risk ratios for congenital he...

OBJECTIVE To assess the prevalence and patterns of congenital heart defects in infants requiring hospital admission in a defined population and to determine the differences in ethnic groups. DESIGN A three year retrospective analysis of all hospital admissions for paediatric congenital heart defects in a single centre. SETTING Tertiary referral centre for infant cardiac services in the West...

conclusions opium has teratogenic effect on cardiovascular system. results from 225 children under study 23.5% had addicted parents based on the variables of the study but the rate was only 2.3 for the control group. the difference between these two groups was significant and the most common form of heart disease was congenital ventricular septal defect. background opium abuse is one of the wid...

OBJECTIVE To investigate whether the 1998 government policy for mandatory fortification of flour and pasta products with folate was followed by a reduction in the prevalence of severe congenital heart defects. DESIGN Time trend analysis. SETTING Province of Quebec, Canada. PARTICIPANTS Infants born in 1990-2005 identified with severe congenital heart defects (tetralogy of Fallot, endocard...

(Abstracted from J Pediatr 2022;244:148–153) Congenital heart defects are the most common cause of infant death linked to congenital malformations (CHDs). This group disorders therefore remains a for concern, despite improvements in medical and surgical management that have resulted higher survival rates.

BACKGROUND Congenital heart defects may be environmentally related, but the association with elevated ambient temperature has received little attention. OBJECTIVES We studied the relationship between outdoor heat during the first trimester of pregnancy and risk of congenital heart defects. METHODS We carried out a retrospective cohort study of 704,209 fetuses between 2 and 8 weeks postconce...

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 ...