Holt-Oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects. Skeletal defects exclusively affect the upper limbs in the preaxial radial ray distribution and are bilateral and asymmetrical. They range from clinodactyly, absent or digitalised thumb, hypoplastic...

holt-oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects. skeletal defects exclusively affect the upper limbs in the preaxial radial ray distribution and are bilateral and asymmetrical. they range from clinodactyly, absent or digitalised thumb, hypoplastic...

congenital left ventricular diverticulum is a rare cardiac malformation. two categories of congenital ventricular diverticulum have been identified with regard to their localization: apical and non-apical. apical diverticula are always associated with midline thoraco-abdominal defects and other heart malformations. non-apical diverticula are always isolated defects. diagnosis is established by ...

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...

background: we sought to determine the frequency of the risk factors for congestive cardiac failure (ccf) in a tertiary care hospital in peshawar, pakistan. methods: this retrospective, observational study was conducted in the department of cardiology, postgraduate medical institute, lady reading hospital peshawar, from march 2005 to september 2007. relevant information regarding the risk facto...

Holt-Oram syndrome is a rare inherited disorder involving the hands, arms, and the heart. The defects involve carpal bones of the wrist and the thumb and the associated cardiac anomalies like atrial or ventricular septal defects. Congenital cardiac and upper-limb malformations frequently occur together and are classified as heart-hand syndromes. The most common amongst the heart-hand disorders ...

OBJECTIVE To investigate any association between selective serotonin reuptake inhibitors (SSRIs) taken during pregnancy and congenital major malformations. DESIGN Population based cohort study. PARTICIPANTS 493 113 children born in Denmark, 1996-2003. MAIN OUTCOME MEASURE Major malformations categorised according to Eurocat (European Surveillance of Congenital Anomalies) with additional d...

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...

The heart is the first functioning organ to develop during embryogenesis. The formation of the heart is a tightly regulated and complex process, and alterations to its development can result in congenital heart defects. Mutations in sarcomeric proteins, such as alpha myosin heavy chain and cardiac alpha actin, have now been associated with congenital heart defects in humans, often with atrial s...

The transition from the single circulation of the embryo to the double circulation of the neonatal and adult heart involves the transformation of the primitive heart tube through a complex morphogenetic process, resulting in completely separated right and left heart chambers and distinct pulmonary and systemic circulations. Septation of heart chambers starts at early stages in embryogenesis and...