An analysis of 555 consecutive cases of congenital heart disease in Ceylon has shown that for the whole series interatrial septal defect is the commonest cardiac lesion; next is interventricular septal defect, followed by persistent ductus arteriosus. Interventricular and interatrial septal defects are equally common among all the patients below 16 years of age, but interventricular septal defe...

BACKGROUND Mutations of the transcription factor Nkx2-5 cause pleiotropic heart defects with incomplete penetrance. This variability suggests that additional factors can affect or prevent the mutant phenotype. We assess here the role of genetic modifiers and their interactions. METHODS AND RESULTS Heterozygous Nkx2-5 knockout mice in the inbred strain background C57Bl/6 frequently have atrial...

UNLABELLED In the last decade, cardiac computed tomography (CT) has gained mainstream acceptance for the noninvasive exclusion of significant coronary disease in a selected population. Improvements in electrocardiogram (ECG)-triggered imaging techniques also allow, by extension, a proper evaluation of the complete heart anatomy. Given the increasing worldwide clinical implementation of cardiac ...

today, congenital heart diseases may be treated without surgery through advances in interventional cardiology. however, complications such as infection and thrombus formation may develop due to foreign materials used during these procedures. surgical intervention may be required for the removal of the device utilized for the procedure. in this case report, we present the surgical treatment of a...

Background—Mutations of the transcription factor Nkx2-5 cause pleiotropic heart defects with incomplete penetrance. This variability suggests that additional factors can affect or prevent the mutant phenotype. We assess here the role of genetic modifiers and their interactions. Methods and Results—Heterozygous Nkx2-5 knockout mice in the inbred strain background C57Bl/6 frequently have atrial a...

The presence of septal defects in congenital heart disease makes for a direct shunting of particulate matter from the venous to the arterial side of the circulation. In revieswing the literature we have been surprised to find that this phenomenon, with resultant brain abscess, has been second only to bacterial endocarditis as a septic cause of death. The subject deserves attention from the view...

OBJECTIVE Noonan syndrome is a clinically homogeneous but genetically heterogeneous condition. Type 1 Noonan syndrome is defined by the presence of a mutation in the PTPN11 gene, which is found in approximately 40% of the cases. Phenotype descriptions and cardiac defects from cohorts with Noonan syndrome were delineated in the "pregenomic era." We report the heart defects and links to gene dysf...

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...

The fourth case of spontaneous closure of a ventricular septal defect in a patient having prior pulmonary artery banding is reported. Statistics to date indicate that yenfricular septal defects in patients who require banding may close with lesser frequency than those for which banding is not required. The apparent lower incidence of spontaneous closure of these defects should not Influence the...

STUDY QUESTION Does maternal exposure during pregnancy to higher ambient temperature increase the risk of congenital heart defects (CHDs)? SUMMARY ANSWER Significant associations were found between maternal exposure during pregnancy to higher ambient temperature and CHDs risk especially during the cold season. WHAT IS KNOWN ALREADY From rodents to non-human primates, a teratogenic effect of...