Congenital heart disease

Congenital heart disease occurs in approximately 8/1000 live births. The most common lesion is a ventricular septal defect. Many are small and do not need surgery. Interventional catheterization has advanced considerably in the last two decades. Procedures performed with a transcatheter approach include aortic valvuloplasty, pulmonary valvuloplasty, occlusion of patent ductus, dilatation of re-coarctation, stenting of pulmonary artery narrowing, atrial septal defect closure and percutaneous pulmonary valve insertion. Cyanotic heart disease includes Fallot’s tetralogy and transposition of the great arteries. Both are amenable to correction in childhood. More complicated cyanotic lesions are treated by separation of the systemic venous flow by a cavopulmonary connection, which is often referred to as a Fontan circulation. This successful surgery has led to an increasing workload in adult congenital heart disease. Some genetic syndromes with single-gene defects are associated with congenital heart disease including: Marfan, Noonan, Williams, as are chromosomal disorders such as Down and Turner. DiGeorge syndrome (thymic aplasia, hypoparathyroidism and cono-truncal cardiac defect) and velocardiofacial syndrome (palatal abnormalities, heart defects and dysmorphic features) are associated with microdeletions within the q11 region of chromosome 22.