Disease - Tetralogy of Fallot

Heart, section through the middle
Tetralogy of Fallot
Cyanotic ´Tet spell´


Definition:

A type of heart defect present at birth (congenital) consisting of four different abnormalities. It usually results in insufficiently oxygenated blood being pumped to the body causing cyanosis (bluish discoloration of the skin).


Alternative Names:

TET; TOF


Causes And Risk:


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 higher incidence of tetralogy of Fallot in children with Down syndrome (a common genetic disorder which results from having an extra 21st chromosome).

Tetralogy of Fallot is classified as a cyanotic heart defect because the condition causes insufficiently oxygenated blood to be pumped to the body, which leads to cyanosis (a bluish-purple coloration to the skin) and shortness of breath.

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 pulmonic outflow tract (tube that connects the heart with the lungs)
An aorta (tube that carries oxygenated blood to the body) that arises from both ventricles, rather than exclusively from the left ventricle
A thickened muscular wall of the right ventricle (right ventricular hypertrophy)
There is flow of deoxygenated (blue) blood into the general body circulation and decreased blood flow to the lungs.

At birth, infants may not show the signs of the cyanosis, but later may develop sudden frightening episodes of bluish skin from crying or feeding (called "Tet spells"). Tetralogy of Fallot occurs in approximately 5 out of 10,000 infants.


Prevention:

There is no known prevention.


Symptoms:


Difficult feeding (poor feeding habits)
Failure to gain weight
Poor development
Cyanosis which becomes more pronounced during periods of agitation
Passing out
Sudden death
Clubbing of fingers (skin or bone enlargement around the finger nails)
Shortness of breathaggravated byexercise
Squatting during episodes of cyanosis

Signs And Tests:


A physical examination with a stethoscope almost always reveals a heart murmur.

Tests:

EKG (elctrocardiogram) showing the thickening of the right ventricle muscle
CBC showing increased red blood cells
Chest X-ray showing a "boot shaped" heart and dark lungs
Cardiac catheterization
Echocardiogram for the definitive diagnosis

Treatment:


Surgery to repair the defects in the heart is always performed relatively early in life. Sometimes a preliminary surgery to create increased blood flow to the lungs is done before definitive corrective surgery. Corrective surgery widens the narrowed pulmonary valve, and the ventricular septal defect is closed.

Parents of children with tetralogy of Fallot can be assisted in coping with the symptoms of the disease. Some interventions to consider include:

If a child does become blue, the parent should immediately place the child on his/her side and put the knees up to the chest, calm the baby and seek medical attention
Feeding the child slowly
Giving smaller, more frequent meals
Decreasing the child´s anxiety by remaining calm
Minimizing crying by trying to anticipate the child´s needs
Recruiting others to care for the child to prevent parental exhaustion and burn-out

Prognosis:

Most cases can be surgically corrected. Prognosis (probable outcome) with surgery is good. Without surgery, death usually occurs around 20 years old.


Complications:


Delayed growth and development
Seizures during periods of insufficient oxygen