Atresia - pulmonary
    
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Atresia - pulmonary

Definition

Pulmonary atresia is an extremely rare form of congenital heart disease in which the pulmonary valve does not form properly. The pulmonary valve is a flap-like opening on the right side of the heart that allows blood to move to the lungs.

In pulmonary atresia, a solid sheet of tissue forms where the valve opening should be. Because of this defect, blood from the right side of the heart cannot go to the lungs to pick up oxygen.

Alternative Names

Atresia - pulmonary; PA/IVS

Causes

As with most congenital heart diseases, there is no known cause of pulmonary atresia. The condition is associated with another type of congenital heart defect called a patent ductus arteriosus (PDA).

Persons with pulmonary atresia may also have a poorly developed tricuspid valve.

Pulmonary atresia may occur with or without a ventricular septal defect (VSD). If the person does not have a VSD, the condition is called pulmonary atresia with intact ventricular septum (PA/IVS). If the person has both problems, the condition is called pulmonary atresia with VSD. This is an extreme form of tetralogy of Fallot.

Symptoms

Symptoms usually occur in the first few hours of life, although it may take up to a few days.

Symptoms may include:

  • Bluish colored skin (cyanosis)
  • Shortness of breath
  • Fast breathing
  • Poor eating habits (babies may get tired while nursing)
  • Fatigue

Exams and Tests

The health care provider will use a stethoscope to listen to the heart and lungs. Persons with a PDA have a characteristic heart murmur that can be heard with a stethoscope.

The following tests may be ordered:

  • Electrocardiogram (ECG)
  • Chest x-ray
  • Pulse oximetry - shows the amount of oxygen in the blood
  • Echocardiogram
  • Heart catheterization

Treatment

A medicine called prostaglandin E1 may be used to help the blood move (circulate) through the body.

Other treatments include:

  • Interventional heart catheterization
  • Open heart surgery to repair or replace the valve
  • Heart transplant

Outlook (Prognosis)

Most cases can be helped with surgery. However, how well a baby does depends on the quality of the blood vessels supplying the heart, how well the heart is beating, and the amount of leakiness of the other heart valves.

Some patients who have PA/IVS where the right ventricle is extremely small usually have several surgeris to help simulate normal circulation, but the surgeries do not exactly re-create normal circulation. A subgroup of these patients also have abnormal blood supply to the heart.

Possible Complications

  • Delayed growth and development
  • Seizures due to too little oxygen in the blood
  • Infectious endocarditis
  • Heart failure

When to Contact a Medical Professional

Call your health care provider if the baby has:

  • Problems breathing
  • Skin or nails that appear blue (cyanosis)

Prevention

There is no known prevention.

All pregnant women should receive good prenatal care. Many congenital defects can be discovered on routine ultrasound examinations performed by an obstetrician. If found before birth, medical specialists (such as a pediatric cardiologist, a cardiothoracic surgeon, and a neonatologist) can be present, and ready to help as necessary. Such preparation can mean the difference between life and death for some babies.

Behrman RE, Kliegman RM, Jenson HB. Nelson Textbook of Pediatrics. 17th ed. Philadelphia, Pa: WB Saunders; 2004:1527-1530.

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.

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