Congenital heart disease (CHD) occurs in approximately 1 per cent of liveborn children, but in a much higher percentage in those aborted spontaneously, stillborn or with chromosomal abnormalities. Approximately 5 to 8 per cent of CHD is due to gross chromosomal abnormalities. The most common chromosomal defect with congenital heart disease is Down syndrome. Aside of mental retardation and hypotonia, which are present in virtually all Down syndrome (DS) individuals, the frequency of CHD ranges to 40% or more. The most common heart defects found in Down syndrome are endocardial cushion defect (45%) ventricular septal defect (35%), secundum atrial septal defect (8%), tetralogy of Fallot (4%) and isolated patent ductus arteriosus (7%). Clinical examination, chest radiography, and electrocardiography soon after birth, followed by cross sectional Doppler echocardiography, help in diagnostics. Echocardiography performed early in life can detect congenital heart disease that might otherwise be missed. Since children with DS are at the risk group of getting CHD, all newborn with this syndrome have to be examinated by kardiologist. Early detection may help prevent complications such as pulmonary vascular disease that may adversely affect the outcome of cardiac surgery. Chromosomal abnormalities are detected through karyotyping, prenatal diagnostic by ginecologist, which can prepare us for further interventions and for parents to be prepared. Thus, professionals, especially pediatrics, must be aware of the implications that performing the karyotype can bring to the diagnosis, treatment and prognosis and for genetic counseling of patients and families. Improved medical and surgical care has decreased morbidity and mortality in these patients in recent years. At the end, final outcome depends on complexity of HD and of time spend without diagnosis. Long therm outcome for childrend with Down syndrome depends on integrated care and mulitdisciplinary approach.