Tetralogy of Fallot With Absent Pulmonary Valve

Introduction:

Tetralogy of Fallot with an absent pulmonary valve is a rare genetic heart defect due to several structural abnormalities within the heart. The condition consists of four types of heart anomalies and the absence or underdevelopment of the pulmonary valve. The pulmonary valve helps blood flow from the right ventricle to the pulmonary artery and the lungs for oxygenation. The normal blood flow pattern may be disrupted if the pulmonary valve is absent. This can lead to ventricular enlargement and the backflow of the blood. Advanced diagnostic techniques help in detecting the condition. Pediatric and cardiac surgeons are experts in managing genetic heart disease. The article discusses the condition's causes, symptoms, diagnosis, treatment, and complications.

What Is Tetralogy of Fallot With Absent Pulmonary Valve?

Tetralogy of Fallot with absent pulmonary valve (TOF-APV) is a genetic cardiac anomaly with several heart defects. The defects include right ventricular outflow tract obstruction, overriding aorta, pulmonary valve absence, and ventricular septal defect. This can cause a disturbance in the blood flow pattern, leading to retrograde flow of the blood from the pulmonary artery to the right ventricle. This can cause severe increases in the size of the ventricles and pulmonary arteries. The enlargement can put pressure on the surrounding structures and cause breathing obstruction.

What Are the Causes of Tetralogy of Fallot With Absent Pulmonary Valve?

Hereditary heart disease affects infants from birth. The cause of TOF-APV can be genetic or environmental factors. Several causes of the condition are as follows:

• Genetic Factors: If the genes involved in the development of the heart undergo mutations and alterations, then there are high chances of developing heart defects.

• Chromosomal Abnormalities: These abnormalities can lead to the development of TOF-APV. For example, DiGeorge syndrome (missing part at chromosome 22). The syndrome is associated with several hereditary heart disorders.

• Environmental Factors: If the pregnant woman is vulnerable to medications and infections, then the development of the condition is greater.

• Developmental Problems: Heart abnormalities during fetal development can cause the development of the condition.

What Are the Signs and Symptoms of Tetralogy of Fallot With Absent Pulmonary Valve?

The signs and symptoms of tetralogy of Fallot with an absent pulmonary valve are as follows:

• Cyanosis: Due to improper blood supply, there can be bluish tints on the skin, nail beds, and lips.

• Difficulty Breathing: Children and infants with the condition may experience rapid breathing, shortness of breath, and difficulty feeding.

• Delayed or Poor Growth and Development: Due to the elevated demands of energy of the heart may lead to poor weight gain in children. The development and growth of the infants or the children can be delayed.

• Heart Murmur: The abnormal heart sound can be heard due to the unusual and improper blood flow.

• Clubbing of Fingers: Decreased oxygen levels can cause rounding or clubbing of the fingertips and toes.

• Fainting: The patient may have fainting episodes and loss of consciousness during any exertive physical activity.

• Tiredness: The patient may be easily tired during physical activity. This can be due to the ineffective pumping of blood.

• Heart Enlargement: Due to the excessive strain on the heart, the heart may get enlarged with time.

• Pulmonary Infections: The patient may be susceptible to an elevated risk of pulmonary or lung infections. This can be due to the improper blood flow in the heart.

How Is Tetralogy of Fallot With Absent Pulmonary Valve Diagnosed?

The steps that are involved in the diagnosis of tetralogy of Fallot with an absent pulmonary valve are described below:

• Physical Examination: The healthcare provider will find the irregularities in the heart sound and check for the associated signs and symptoms.

• Echocardiogram: The diagnostic device uses ultrasound waves to see the blood flow patterns and defective heart abnormalities.

• Chest X-ray: It will show the heart's size and shape. The change in the blood flow in the lungs is also seen through an X-ray.

• Electrocardiogram: The diagnostic tool checks the heart's electrical pathways and rhythm abnormalities.

• Genetic Testing: The test determines the genetic cause of the condition. It is indicated only if there is a family history of congenital heart abnormalities.

• Cardiac Catheterization: The catheter calculates the oxygen levels and pressure in the blood vessels and heart chambers.

How Is Tetralogy of Fallot With Absent Pulmonary Valve Treated?

The treatment of tetralogy of Fallot with an absent pulmonary valve includes medical and surgical interventions.

1. Medical Management: The healthcare provider may prescribe some medications to the patient to relieve symptoms. The symptoms, such as high stress on the heart and decreased oxygen levels, can be improved. Medications such as diuretics and heart failure medications can remove more fluid and manage heart function. Other symptoms, such as cyanosis, can be eliminated by providing extra oxygen to the patient. This will help in the improvement of blood oxygen saturation.

2. Surgical Interventions: The surgical intervention is described below:

   • Pulmonary Valve Replacement: A surgical procedure can replace or repair the absent or underdeveloped pulmonary valve. This will help reduce the excess strain on the heart and improve the blood flow. An artificial one replaces the defective pulmonary valve. The healthcare provider will make an incision to see the defective or absent pulmonary valve. The cardiopulmonary bypass machine diverts the blood, allowing the surgeon to work on the heart. Then, the defective one is removed and replaced with the artificial heart valve. Then, the cardiopulmonary bypass machine is removed, and the blood circulation of the heart is restored.

   • Other Defect Repair: The other defects, which are in the case of tetralogy of Fallot, can be repaired with the same surgical procedure.

3. Lifestyle Modification: Individuals with the condition may follow some lifestyle modifications such as staying physically active, eating a balanced diet, and avoiding activities that put excess strain on the heart.

What Are the Complications of Tetralogy of Fallot With Absent Pulmonary Valve?

The potential complications of the condition are as follows:

• Sudden episodes of bluish skin.

• Difficulty breathing.

• Chronic low oxygen levels.

• Heart murmurs.

• Heart failure.

• Irregular heartbeat.

• Infection of the innermost lining of the heart.

• Pulmonary infections.

• Pulmonary artery aneurysms.

• Developmental delays.

• Exercise intolerance.

• Formation of blood clots.

• Embolism (blockage).

Conclusion:

In conclusion, tetralogy of Fallot is a rare cardiac disorder that affects infants and children. The absence of a pulmonary valve causes irregular blood flow, leading to symptoms. The advancement in diagnostic techniques helps in detecting several hereditary heart abnormalities. The condition can be treated with medical and surgical interventions, including pulmonary valve replacement. Regular follow-up is necessary to limit complications.