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Tetralogy of Fallot

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Definition:

Tetralogy of Fallot refers to four types of heart defects present at birth (congenital).

Alternative Names:

TET; TOF

Causes, incidence, and risk factors:

Tetralogy of Fallot is classified as a cyanotic heart defect because the condition causes too little oxygen levels in the blood, which leads to cyanosis (a bluish-purple coloration to the skin).

The classic form of Tetralogy includes 4 defects within the heart structures:

• Ventricular septal defect (hole between the right and left ventricles)
• Narrowing of the pulmonary outflow tract (tube that connects the heart with the lungs)
• An aorta (tube that carries oxygenated blood to the body) that grows from both ventricles, rather than exclusively from the left ventricle
• A thickened muscular wall of the right ventricle (right ventricular hypertrophy)

At birth, infants may not show the signs of the cyanosis, but later may develop sudden frightening episodes (called "Tet spells") of bluish skin from crying or feeding.

Tetralogy of Fallot occurs in approximately 5 out of 10,000 infants.

The cause of most congenital heart defects is unknown. Multiple factors seem to be involved. Prenatal factors associated with higher than normal risk for this condition include maternal rubella or other viral illnesses during pregnancy, poor prenatal nutrition, maternal alcoholism, mother over 40 years old, and diabetes .

There is a high incidence of chromosomal disorders in children with tetralogy of Fallot, such as Down syndrome and Di George's syndrome (a partial gene deletion that results in heart defects, low calcium levels, and immune deficiency.)

References:

Townsend CM, Beauchamp RD, Evers BM, Mattox KL. Sabiston Textbook of Surgery: The Biological Basis of Modern Surgical Practice . 17th ed. St. Louis, MO: WB Saunders; 2004:1823-1825.

Zipes DP, Libby P, Bonow RO, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine , 7th ed. St. Louis, Mo; WB Saunders; 2005:1515.

• Review Date: 6/27/2006
• Reviewed By: Anne J. L. Chun, M.D., Assistant Professor of Pediatrics, Division of Pediatric Cardiology, New York University School of Medicine, New York, NY. Review provided by VeriMed Healthcare Network.

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