Tetralogy of Fallot

Tetralogy of Fallot (TOF) is a congenital heart defect that affects the structure and function of the heart. It is characterized by four main abnormalities: ventricular septal defect, pulmonary stenosis, right ventricular hypertrophy, and an overriding aorta.

Causes and Risk Factors

The exact cause of Tetralogy of Fallot is not known, but it is believed to be related to genetic and environmental factors. Risk factors for TOF include:

• Family history of congenital heart defects
• Pregnancy complications, such as maternal diabetes or rubella infection
• Chromosomal abnormalities, such as Down syndrome or Turner syndrome
• Exposure to certain medications or substances during pregnancy

Symptoms

The symptoms of Tetralogy of Fallot can vary depending on the severity of the condition. Common symptoms include:

• Cyanosis (blue discoloration of the skin and mucous membranes)
• Shortness of breath or difficulty breathing
• Fatigue or weakness
• Poor feeding or failure to gain weight in infants
• Squating or assuming a specific position to relieve symptoms

Diagnosis

Tetralogy of Fallot is typically diagnosed during infancy or early childhood. Diagnostic tests may include:

• Echocardiogram (ultrasound of the heart)
• Chest X-ray
• Electrocardiogram (ECG)
• Cardiac catheterization
• Magnetic resonance imaging (MRI) or computed tomography (CT) scan

Treatment

The primary treatment for Tetralogy of Fallot is surgical repair, which typically involves:

• Closure of the ventricular septal defect
• Relief of pulmonary stenosis
• Repair or replacement of the pulmonary valve
• Repositioning of the aorta

In some cases, a temporary procedure called a Blalock-Taussig shunt may be performed to increase blood flow to the lungs and improve oxygenation.

Prognosis

The prognosis for Tetralogy of Fallot is generally good with surgical treatment. Most children who undergo repair can lead active and normal lives, although they may require ongoing medical care and monitoring. Potential complications include:

• Residual or recurrent defects
• Pulmonary regurgitation
• Aortic root dilatation
• Arrhythmias or sudden cardiac death

Long-term Care

Individuals with Tetralogy of Fallot require ongoing medical care and monitoring to prevent and manage potential complications. This may include:

• Regular follow-up appointments with a cardiologist
• Periodic echocardiograms and other diagnostic tests
• Medications to manage symptoms or prevent complications
• Lifestyle modifications, such as avoiding strenuous exercise or high-altitude activities