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Congenital heart disease overview

Updated: July 29, 2009

Congenital cardiovascular malformations are generally the result of aberrant development of a normal structure in the fetus, or failure of such a structure to progress beyond an early stage of embryonic or fetal development. Malformations are due to complex multifactorial genetic and environmental causes. Usually these patients are diagnosed by pediatricians and do not present as adults without previous diagnosis and management unless they have small lesions such as atrial septal defects (ASD) which have escaped diagnosis during childhood.

Types of congenital heart diseases

A. Cyanotic heart disease

These are associated with an abnormal flow of oxygenated blood from the left side of the heart back to the right side before passing through the aorta to reach the body. This reduces the amount of oxygen that reaches the body because the blood carrying it is being recycled between the right and left sides of the heart. Lack of oxygen in the tissues leads to a bluish coloration of the skin and mucosal tissues such as the lips. Some of these conditions are associated with enlargement of the left, right or both sides of the heart.

  • With right ventricular enlargement: Triology of Fallot, Eisenmenger, Ebstein's anomaly.
  • With left ventricular enlargement: Tricuspid atresia.
  • With biventricular enlargement: transposition of the great vessels & truncus arteriosus.
  • With no ventricular enlargement: Tetralogy of Fallot.

B. Non-cyanotic heart disease

  • With right ventricular enlargement: Atrial septal defects, pulmonary stenosis.
  • With left ventricular enlargement: Patent ductus arteriosus, coarctation, Aortic stenosis
  • With biventricular enlargement: Ventricular septal defect.
  • With no ventricular enlargement: any mild lesion or dextrocardia.

Aortic stenosis, coarctation of the aorta and pulmonary stenosis are not associated with shunting of blood from the left side to the right.


Previous: Constrictive pericarditis Next: Eisenmenger’s syndrome

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