This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Pulmonary arterial hypertension (PAH) affects the heart and lungs. It is characterized by abnormally high blood pressure (hypertension) in the pulmonary artery, the blood vessel that carries blood from the heart to the lungs. Symptoms include shortness of breath (dyspnea) during exercise and fainting spells. The symptoms tend to get worse over time and may include dizziness, swelling (edema) of the ankles or legs, chest pain, and a racing pulse. Some cases of PAH are due to genetic changes (mutations) in the BMPR2 gene and inherited in an autosomal dominant pattern. Most cases of PAH occur in individuals with no family history of the disorder. When PAH is inherited from an affected relative it is called “familial” PAH. Cases with no identifiable cause may be referred to as “idiopathic” PAH. PAH can also occur secondary to underlying conditions such as connective tissue diseases, HIV infection, chronic hemolytic anemia, and congenital heart disease. PAH can also be induced by certain drugs and toxins. Diagnosis is based on the symptoms, clinical examination, and specialized testing. Treatment is focused on managing the symptoms and may include both surgery and medications. Lung transplantation is an option in the most severe cases. Diagnosis and treatment guidelines have been published in the medical literature.
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