Cyanotic heart disease

Definition:

A defect in the structure or function of the heart, present at birth.

Causes, incidence, and risk factors:

Heart disease that a child is born with is called congenital heart disease (CHD). Some heart defects cause major problems immediately after birth, and some cause few if any problems until, perhaps, adulthood.

Cyanotic heart diseases are congenital heart defects which result in low oxygen levels in the blood and cause the child's lips, fingers, and toes to look blue (cyanosis).

Examples of congenital heart defects which cause cyanosis are:

• Tetralogy of Fallot
• Transposition of the great vessels
• Tricuspid atresia (a deformity of the tricuspid heart valve)
• Total anomalous venous return
• Truncus arteriosus
• Hypoplastic left heart

Most congenital heart disease occurs as a single birth defect, though some conditions occur as part of various genetic and chromosomal syndromes. Examples are Down's syndrome, Trisomy 13, Turner's syndrome (XO), Marfan, Noonan's syndrome, and Ellis-van Creveld syndrome.

Drugs, chemicals, and infections during pregnancy may also produce congenital heart abnormalities. Fetal rubella, maternal alcohol use (fetal alcohol syndrome), and retinoic acid (for acne) are examples of infections, chemicals, and drugs that can cause congenital heart disease.