Today is World Down Syndrome Day. Down Syndrome Day is on the 21st of March every year. The day has been chosen as the 21st day of the third month to symbolize trisomy 21, the genetic defect underlying Down syndrome . The syndrome is named after John Langdon Down form the United Kingdom, who described the syndrome in 1866. The trisomy of 21st chromosome in Down syndrome was detected in 1959 by Lejeune and Jacobs independently. The Down syndrome critical region (DSCR) is 21q22.1-q22.2. A gene in this region, DSCR1, is highly expressed in the brain and the heart and may have its role in the genesis of cardiac defects and mental retardation.

The association between Down syndrome and congenital heart disease is well known and can occur in up to half of them. Congenital heart disease is an important cause of death in Down syndrome in early childhood. Endocardial cushion defects are the classical congenital cardiac defects associated with Down syndrome. In fact, almost three fourths of all endocardial cushion defects are associated with Down syndrome. Other defects reported are secundum atrial septal defects, ventricular septal defects, patent ductus arteriousus and tetralogy of Fallot. Sometimes there may be more than one defect in a person. In fact echocardiographic screening is recommended for all children with Down syndrome.

Surgery for children with Down syndrome and congenital heart disease may be considered as for children without Down syndrome. Children with Down syndrome and left to right shunts have a higher risk of developing early onset of pulmonary vascular disease and needs appropriate timing of surgery to reduce the surgical risk as well as to ensure better outcome with surgery. Careful anaesthetic airway management during surgery is needed as they have a higher risk of associate cervical spine instability. Infections and problems with wound healing should be anticipated in those with Down syndrome.

There are support group websites and email groups for Downs syndrome with heart disease.