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Congenital heart disease

  • Definition

    Congenital heart disease refers to a problem with the heart's structure and function due to abnormal heart development before birth. Congenital means present at birth.

    Causes, incidence, and risk factors

    Congenital heart disease (CHD) can describe a number of different problems affecting the heart. It is the most common type of birth defect. Congenital heart disease is responsible for more deaths in the first year of life than any other birth defects. Many of these defects need to be followed carefully. Some heal over time, others will require treatment.

    Congenital heart disease is often divided into two types: cyanotic (blue discoloration caused by a relative lack of oxygen) and non-cyanotic. The following lists cover the most common of the congenital heart diseases:


    • Tetralogy of Fallot
    • Transposition of the great vessels
    • Tricuspid atresia
    • Total anomalous pulmonary venous return
    • Truncus arteriosus
    • Hypoplastic left heart
    • Pulmonary atresia
    • Some forms of total anomalous pulmonary venous return
    • Ebstein's anomaly


    • Ventricular septal defect (VSD)
    • Atrial septal defect (ASD)
    • Patent ductus arteriosus (PDA)
    • Aortic stenosis
    • Pulmonic stenosis
    • Coarctation of the aorta
    • Atrioventricular canal (endocardial cushion defect)

    These problems may occur alone or together. The majority of congenital heart diseases occurs as an isolated defect and is not associated with other diseases. However, they can also be a part of various genetic and chromosomal syndromes such as Down syndrome, trisomy 13, Turner syndrome, Marfan syndrome, Noonan syndrome, and DiGeorge syndrome.

    No known cause can be identified for most congenital heart defects. Congenital heart diseases continue to be investigated and researched. Drugs such as retinoic acid for acne, chemicals, alcohol, and infections (such as rubella) during pregnancy can contribute to some congenital heart problems.