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Absent pulmonary valve

Absent pulmonary valve syndrome; Congenital absence of the pulmonary valve; Pulmonary valve agenesis; Cyanotic heart disease - pulmonary valve; Congenital heart disease - pulmonary valve; Birth defect heart - pulmonary valve

Absent pulmonary valve is a rare defect in which the pulmonary valve is either missing or poorly formed. Oxygen-poor blood flows from the heart to the lungs (where it picks up oxygen) through which this valve. This condition is present at birth (congenital).

Causes

Absent pulmonary valve occurs when the pulmonary valve does not form or develop properly while the baby is in the mother's womb. When present, it often occurs as part of a heart condition called tetralogy of Fallot. It accounts for about 3% to 6% of people who have tetralogy of Fallot.

When the pulmonary valve is missing or does not work well, blood does not flow efficiently to the lungs to get enough oxygen.

In most cases, there is also a hole between the left and right ventricles of the heart (ventricular septal defect). This defect will also lead to low-oxygen blood being pumped out to the body.

The skin will have a blue appearance (cyanosis), because the body's blood contains a low amount of oxygen.

Absent pulmonary valve also results in very enlarged (dilated) branch pulmonary arteries (the arteries that carry blood to the lungs to pick up oxygen). They can become so enlarged that they press on the tubes that bring the oxygen into the lungs (bronchi). This causes breathing problems.

Other heart defects that can occur with absent pulmonary valve include:

Heart problems that occur with absent pulmonary valve may be due to defects in certain genes.

Symptoms

Symptoms can vary depending on which other defects the infant has, but may include:

  • Blue coloring to the skin (cyanosis)
  • Coughing
  • Failure to thrive
  • Poor appetite
  • Rapid breathing
  • Respiratory failure
  • Wheezing

Exams and Tests

Absent pulmonary valve may be diagnosed before the baby is born with a test that uses sound waves to create an image of the heart (echocardiogram).

During an exam, the health care provider may hear a murmur in the infant's chest.

Tests for absent pulmonary valve include:

  • A test to measure the electrical activity of the heart (electrocardiogram)
  • Chest CT scan
  • Chest x-ray
  • Echocardiogram
  • Magnetic resonance imaging (MRI) of the heart

Treatment

Infants who have breathing symptoms typically need surgery right away. Infants without severe symptoms most often have surgery within the first 3 to 6 months of life.

Depending on the type of other heart defects the infant has, surgery may involve:

  • Closing the hole in the wall between the left and right ventricles of the heart (ventricular septal defect)
  • Closing a blood vessel that connects the aorta to the pulmonary artery (ductus arteriosis)
  • Enlarging the flow from the right ventricle to the lungs

Types of surgery for absent pulmonary valve include:

  • Moving the pulmonary artery to the front of the aorta and away from the airways
  • Rebuilding the artery wall in the lungs to reduce pressure on the airways (pulmonary plication and reduction arterioplasty)
  • Rebuilding the windpipe and breathing tubes to the lungs
  • Replacing the abnormal pulmonary valve with one taken from human or animal tissue

Infants with severe breathing symptoms may need to get oxygen or be placed on a breathing machine (ventilator) before and after surgery.

Outlook (Prognosis)

Without surgery, most infants who have severe lung complications will die.

In many cases, surgery can treat the condition and relieve symptoms. Outcomes are most often very good.

Possible Complications

Complications may include:

  • Brain infection (abscess)
  • Lung collapse (atelectasis)
  • Pneumonia
  • Right-sided heart failure
  • Stroke

When to Contact a Medical Professional

Call your health care provider if your infant has symptoms of absent pulmonary valve. If you have a family history of heart defects, talk to your provider before or during pregnancy.

Prevention

Although there is no way to prevent this condition, families may be evaluated to determine their risk of congenital defects.

References

Bernstein D. Acyanotic congenital heart disease. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 428.

Bernstein D. Cyanotic cosngennital heart lesions. In: Kliegman RM, Stanton BF, St Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 430.

Hraska V, Photiadis J, Schindler E, et al. A novel approach to the repair of tetralogy of Fallot with absent pulmonary valve and the reduction of airway compression by the pulmonary artery. Semin Thorac Cardiovasc Surg Pediatr Card Surg Annu. 2009;12:59-62. PMID: 19349015 www.ncbi.nlm.nih.gov/pubmed/19349015.

Webb GD, Smallhorn JF, Therrien J, Redington AN. Congenital heart disease. In: Mann DL, Zipes DP, Libby P, Bonow RO, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 10th ed. Philadelphia, PA: Elsevier Saunders; 2015:chap 62.

    • Congenital heart defect overview

      Congenital heart defect overview

      Animation

    •  

      Congenital heart defect overview - Animation

      Facts, causes, and treatment of congenital heart defects.

    • Congenital heart defect overview

      Congenital heart defect overview

      Animation

    •  

      Congenital heart defect overview - Animation

      Facts, causes, and treatment of congenital heart defects.

    • Absent pulmonary valve

      Absent pulmonary valve - illustration

      Absent pulmonary valve is a rare defect in which the pulmonary valve is either missing or poorly formed. The pulmonary valve allows oxygen-poor blood to travel from the heart to the lungs. When the pulmonary valve is missing, the branch pulmonary arteries are very enlarged and press down on the airways in the lung, causing breathing problems.

      Absent pulmonary valve

      illustration

    • Cyanotic 'Tet spell'

      Cyanotic 'Tet spell' - illustration

      Tetralogy of Fallot is a birth defect of the heart consisting of four abnormalities that results in insufficiently oxygenated blood pumped to the body. At birth, infants may not show the signs of the cyanosis but later may develop episodes of bluish skin from crying or feeding called "Tet spells".

      Cyanotic 'Tet spell'

      illustration

    • Tetralogy of Fallot

      Tetralogy of Fallot - illustration

      Tetralogy of Fallot is a birth defect of the heart consisting of four abnormalities that results in insufficiently oxygenated blood pumped to the body. It is classified as a cyanotic heart defect because the condition leads to cyanosis, a bluish-purple coloration to the skin, and shortness of breath due to low oxygen levels in the blood. Surgery to repair the defects in the heart is usually performed between 3 and 5 years old. In more severe forms, surgery may be indicated earlier. In most cases the heart can be surgically corrected and the outcome is good.

      Tetralogy of Fallot

      illustration

    • Congenital heart defect overview

      Animation

    •  

      Congenital heart defect overview - Animation

      Facts, causes, and treatment of congenital heart defects.

    • Congenital heart defect overview

      Animation

    •  

      Congenital heart defect overview - Animation

      Facts, causes, and treatment of congenital heart defects.

    • Absent pulmonary valve

      Absent pulmonary valve - illustration

      Absent pulmonary valve is a rare defect in which the pulmonary valve is either missing or poorly formed. The pulmonary valve allows oxygen-poor blood to travel from the heart to the lungs. When the pulmonary valve is missing, the branch pulmonary arteries are very enlarged and press down on the airways in the lung, causing breathing problems.

      Absent pulmonary valve

      illustration

    • Cyanotic 'Tet spell'

      Cyanotic 'Tet spell' - illustration

      Tetralogy of Fallot is a birth defect of the heart consisting of four abnormalities that results in insufficiently oxygenated blood pumped to the body. At birth, infants may not show the signs of the cyanosis but later may develop episodes of bluish skin from crying or feeding called "Tet spells".

      Cyanotic 'Tet spell'

      illustration

    • Tetralogy of Fallot

      Tetralogy of Fallot - illustration

      Tetralogy of Fallot is a birth defect of the heart consisting of four abnormalities that results in insufficiently oxygenated blood pumped to the body. It is classified as a cyanotic heart defect because the condition leads to cyanosis, a bluish-purple coloration to the skin, and shortness of breath due to low oxygen levels in the blood. Surgery to repair the defects in the heart is usually performed between 3 and 5 years old. In more severe forms, surgery may be indicated earlier. In most cases the heart can be surgically corrected and the outcome is good.

      Tetralogy of Fallot

      illustration

    Review Date: 3/15/2016

    Reviewed By: Scott I. Aydin, MD, Assistant Professor of Pediatrics, Albert Einstein College of Medicine, Division of Pediatric Cardiology and Critical Care Medicine, The Children's Hospital at Montefiore, Bronx, NY. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.

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