BACKGROUND Kabuki syndrome (KS) is an entity of multiple congenital malformations with mental retardation with undetermined etiology. Congenital heart defects are one of the clinical manifestations of KS with insufficient elucidations. METHODS Literature of congenital heart defects associated with KS was comprehensively retrieved, collected and reviewed. The clinical features of the congenita...

We investigated the impact of heart defects on the developing human fetus by examining 412 hearts from consecutive spontaneous abortuses. In each case, the cardiac morphology was correlated with the autopsy findings and the karyotype (unavailable in 115 hearts not successfully cultured). Of the 412 hearts, 10 (2.4%) contained structural defects (six ventricular septal defects, one atrial septal...

OBJECTIVES To assess the proportion and pattern of extracardiac birth defects in children with congenital heart defects referred to a tertiary care institute. METHODS Cross-sectional observational study from January 2010 to June 2011. RESULTS Out of 560 children with congenital heart defects, 98 (17.5%) had extracardiac birth defects. Fifty-six had multiple congenital defects; 36 were syndr...

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 ...

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 ...

BACKGROUND Children with major congenital heart defects are risking impaired cerebral growth, delayed cerebral maturation, and neurodevelopmental disorders. We aimed to compare the cerebral tissue oxygenation of fetuses with major heart defects to that of fetuses without heart defects as estimated by the magnetic resonance imaging modality T2*. T2* is low in areas with high concentrations of de...

Congenital heart defects are the most common malformations at birth. Due to the fact that the developmental windows at early stages close rapidly, the aim of this study was to determine the impact of congenital heart defects on the central nervous system at short and medium terms after applying traditional and quantitative electroencephalography techniques and a test of neurodevelopment. Twenty...