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The Genetics of Ayerza Syndrome

written by: Leigh A. Zaykoski•edited by: Leigh A. Zaykoski•updated: 3/31/2010

Ayerza syndrome causes high blood pressure in the blood vessel that carries blood to the lungs. Learn about the genetic mutations associated with this condition, as well as signs and symptoms, alternate names, and treatments for Ayerza syndrome.

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    Description

    Ayerza syndrome causes the pressure in the pulmonary artery to increase. This occurs when the tiny arteries in the lungs constrict (narrow), which makes it more difficult for the blood to flow through the lungs. The pressure increases in the right ventricle of the heart and the pulmonary artery to overcome this difficulty.

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    Genetics

    Ayerza syndrome occurs as the result of mutations in the BMPR2 gene. This gene regulates the number of cells in body tissues. The Genetics Home Reference of the National Institutes of Health indicates that BMPR2 mutation may prevent cell death or increase the rate of cell division. This causes an overgrowth of cells in the small bronchial arteries. This narrows the small arteries in the lungs, forcing the pulmonary artery to work harder.

    The Genetics Home Reference indicates that Ayerza syndrome is inherited in an autosomal dominant pattern. This means that each cell has a copy of the mutated BMPR2 gene. When this disorder is inherited, geneticists refer to it as familial pulmonary artery hypertension. The disorder begins earlier in life as the mutated gene passes from one generation to the next.

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    Alternate Names

    Ayerza syndrome has several alternate names.

    • FPPH
    • Idiopathic pulmonary hypertension
    • Sporadic primary pulmonary hypertension,
    • PAH
    • PPHT
    • Primary pulmonary hypertension
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    Signs & Symptoms

    Signs and symptoms of Ayerza syndrome begin when the increased pressure in the pulmonary artery does not overcome the resistance in the smaller arteries of the lungs. This reduces blood flow to the body. Signs and symptoms of this condition include shortness of breath, fainting, swelling, chest pain, dizziness and racing pulse.

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    Incidence

    This condition occurs in approximately one out of every 1,000 individuals. It occurs more frequently in women than in men.

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    Diagnosis

    Ayerza syndrome is difficult to diagnose because the symptoms often mimic those of asthma and other respiratory conditions. Diagnostic tests for this condition include chest x-ray, echocardiography, right heart catheterization, and electrocardiogram (EKG). A chest x-ray produces images of the heart and lungs. Doctors use the x-ray to determine if the right ventricle and pulmonary arteries are enlarged. Right heart catheterization measures the pressure in the pulmonary artery. During this procedure, a doctor puts a thin tube into a blood vessel in your neck or groin.

    Echocardiography involves the use of ultrasound to estimate the pressure in the arteries and identify an enlarged heart. The EKG gives doctors a record of your heartbeat, which helps identify irregular heart rhythms.

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    Classification

    Pulmonary hypertension does limit physical activity in some cases. Based on exercise testing, your doctor will assign you an activity level based on the severity of your Ayerza syndrome. Class one allows regular activity, as physical exertion does not cause symptoms. Mild limits are assigned to class two. This is because you are fine while you are resting, but activity causes your symptoms to flare up. People in class three have difficulty walking or climbing stairs, so this class has moderate limits. Physical activity is very limited in class four, as you may have pulmonary hypertension symptoms even at rest.