BACKGROUND The 22q11.2 microdeletion syndrome (22q11.2 deletion syndrome -22q11.2DS) refers to congenital abnormalities, including primarily heart defects and facial dysmorphy, thymic hypoplasia, cleft palate and hypocalcaemia. Microdeletion within chromosomal region 22q11.2 constitutes the molecular basis of this syndrome. The 22q11.2 microdeletion syndrome occurs in 1/4000 births. The aim of ...

RATIONALE High take-off of the coronary arteries is a rare cardiac anatomic anomaly, which may occur independently or with other congenital heart defects. In the clinical setting, it is noteworthy as a cause of sudden cardiac death. Further, it is vital to identify such anomalies to avoid intraoperative catastrophes in surgeries for congenital heart defects. PATIENT CONCERNS A II/6 systolic h...

BACKGROUND Children with Down syndrome (DS) have about a 40 to 50% incidence of congenital heart disease (CHD). The objectives of this study were to evaluate the distribution and frequency of CHD patterns in Libyan children with DS. METHODS All patients with DS who were referred to the cardiology clinic between January 1995 and December 2008 were reviewed. RESULTS Of the 1 193 patients revi...

Hypoplastic left heart syndrome (HLHS) is a form of congenital heart disease characterized by severe underdevelopment of the left heart, leading to inadequate systemic blood flow. Several different atrial septal morphologies are observed in HLHS, most commonly a secundum atrial septal defect, patent foramen ovale, intact septum, and leftward displacement of the superior attachment of the septum...

UNLABELLED An infant, showing peripheral cyanosis, was born after lower abdominal peripheral caesarian section of the pregnant women having TORCH positive test with the infection of Toxoplasma gondiiand Cytomegalovirus. She had three abortions prior to this pregnancy. Doppler echocardiography of the baby showed profound intracardiac defects. After birth, echocardiography was carried out for dia...

OBJECTIVE We describe patient characteristics and postoperative morbidity and mortality rates for patients with Down syndrome undergoing congenital heart disease surgery. METHODS This retrospective cohort study used the Society of Thoracic Surgeons Congenital Heart Surgery Database to compare patient characteristics and postoperative outcomes for patients (0-18 years) with or without Down syn...

This analysis concerns Fallot's tetralogy, a form of cyanotic congenital heart disease about which there is little information relating to the population of north east England, and attempts to assess the influence of familial and other variables possibly concerned in its aetiology. This disease of the heart is named after Fallot who described it in 1888, though it had been recognized as a clini...

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...

BACKGROUND The primary objective of this study was to develop an image-guided, noninvasive procedure to create or enlarge an atrial septal defect for the treatment of neonates with hypoplastic left heart syndrome and an intact or restrictive atrial septum. Histotripsy is an innovative ultrasonic technique that produces nonthermal, mechanical tissue fractionation through the use of high-intensit...

The aim of the present study was to determine if patients with both pulmonary arterial hypertension (PAH), due to pulmonary vascular obstructive disease, and congenital heart defects (CHD), have mutations in the gene encoding bone morphogenetic protein receptor (BMPR)-2. The BMPR2 gene was screened in two cohorts: 40 adults and 66 children with PAH/CHD. CHDs were patent ductus arteriosus, atria...