Pulmonary valve disease

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at May 30, 2016
StartDiseasesPulmonary valve disease

Pulmonary valve disease is an umbrella term that typically refers to three different types of disease: pulmonary valve stenosis, pulmonary valve regurgitation, and pulmonary atresia. All of these diseases involve a defect in the pulmonary valve, which is located between the right ventricle and the pulmonary artery. This defect causes issues with blood flow between the heart and the lungs

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Definition & Facts

Pulmonary valve diseases are extremely rare, and are mainly discovered in newborns or infants. They are only present in children and adults that experienced defects during their fetal development, or came down with diseases in adulthood that damaged or scarred the pulmonary valve. These conditions are typically present at birth as the result of congenital heart defects, and although they can be dangerous, mild cases may not necessitate medical attention.

Stenosis, also known as narrowing, occurs when not enough blood is able to flow to the lungs because the valve cannot open wide enough. In pulmonary atresia, the pulmonary valve is seriously defective and cannot open at all, and in regurgitation, the valve is leaky and allows blood to flow back into the heart before it reaches the lungs.

Symptoms & Complaints

Symptoms vary widely among the different types of pulmonary valve diseases. In addition, many mild cases do not cause symptoms or complaints and can only be detected using advanced medical techniques. In moderate to severe cases of stenosis and atresia, patients will experience shortness of breath, chest pain, excessive fatigue, and fainting.

Other common symptoms include a bluish tone to the skin, which is called cyanosis, and pale, clammy skin that is cool to the touch. Infants with these diseases also experience difficulty gaining weight and numerous challenges in the first few months.

On the other hand, patients with any type of pulmonary regurgitation exhibit very few visible symptoms. Most are unaware of the condition's presence before being tested for it by a doctor or medical professional. 

Causes

The causes of these diseases and disorders are widely debated in the medical community, but most doctors and researchers agree that the pulmonary defects occur in the womb as the baby is nearing the end of its term. Genetic factors and family history are believed to play a role, but doctors are unsure of exactly which genetic mutation causes these defects of the pulmonary valve.

There are several different heart defects that can result in pulmonary valve disease, but the most common trigger is a defect called tetralogy of Fallot. The defect itself, and also complications stemming from surgery to repair it, can cause all three varieties of pulmonary valve disease.

Stenosis and atresia can arise from complications stemming from diseases that impact the heart, such as rheumatic fever, the onset of carcinoid tumors, and an infection of the inner lining of the heart called endocarditis. Complications arising from catheterization are a rare but statistically significant cause of pulmonary valve disease in the United States.

Diagnosis & Tests

Doctors typically are able to diagnose the condition in early infancy. The presence of a heart murmur in newborn babies alerts medical professionals to the presence of a problem -- this heart murmur can be heard through a stethoscope and sounds like a faint whooshing or an extra click. The presence of a heart murmur is only an indicator, and subsequent tests still must be ordered to determine whether or not a heart defect exists and, if so, whether it is related to pulmonary valve disease.

Doctors will commonly order a series of tests to confirm their suspicions, including MRIs, chest X-rays, echocardiogram or electrocardiogram tests. More infrequently, doctors will order a cardiac catheterization to check for certain telling signs in the construction of the heart's ventricles and valves. This battery of tests will determine the extent of the damage to the valve, and allow doctors to develop a prescriptive course of action that may include surgery and other alternative treatments. 

Treatment & Therapy

Many of the treatment options for pulmonary valve disease hinge on the viability of a surgical option. Most surgeries are undertaken in order to repair or entirely replace the valve in question. These surgeries are most often performed on children around preschool age, but there have been instances of older patients receiving similar replacement surgeries. Alternatively, treatment may focus on the underlying causes of the disease rather than valve replacement: for example, pulmonary regurgitation can be treated by focusing medical efforts on reducing pulmonary hypertension

When pulmonary valve disease exists in tandem with other heart defects, medications may be employed in order to accomplish a variety of different goals. Prostaglandins are widely used to maintain blood flow throughout the heart's ventricles, blood thinners are employed to reduce clotting and strengthen flow, diuretics or water pills are used to remove unwanted fluid from the region's veins, and other pills are given to prevent abnormalities in heart rhythm. For some, mild pulmonary valve disease may not require treatment but rather watchful waiting; it is estimated that the status of over a third of all patients improves with time and does not necessitate medical intervention.

Prevention & Prophylaxis

It is difficult to counter the presence of a defect that asserts itself in the womb, but there are certainly behaviors that mothers can engage in to make a valve defect outcome less likely. Expectant mothers who smoke, drink and eat unhealthily are more likely to bear offspring with heart defects.

People living with these conditions can also maintain heart-healthy lifestyles in order to avoid the risk of the condition worsening. These lifestyles entail a balanced, healthy diet; a detailed, regular exercise regimen, and quitting or avoiding smoking, drugs, and excessive alcohol intake