Primary Pulmonary Hypertension
Primary pulmonary hypertension is a progressive disorder characterized by abnormally high blood pressure (hypertension) in the arteries of the lungs (pulmonary arteries). "Primary" means that the condition is not caused by other diseases of the heart or lungs.

Genes related to primary pulmonary hypertension
Mutations in the BMPR2 gene cause primary pulmonary hypertension.

The BMPR2 gene plays a role in regulating cell number in certain tissues. Researchers suggest that a mutation in this gene prevents cell death or promotes cell division, resulting in an overgrowth of cells in pulmonary blood vessels. Cell overgrowth can narrow the diameter of the vessels, restricting blood flow and resulting in elevated blood pressure.

Other genes that have not yet been identified may also cause primary pulmonary hypertension.

How do people inherit primary pulmonary hypertension?
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene is sufficient to cause the disorder.

In some cases, the altered BMPR2 gene is inherited from an affected parent or a parent with an altered gene who does not develop primary pulmonary hypertension. These inherited cases are known as familial primary pulmonary hypertension. As the altered gene is passed down from one generation to the next, the disorder generally begins earlier in life and has more severe symptoms. This phenomenon is called anticipation.

Most cases of primary pulmonary hypertension, however, occur in individuals who have no previous family history of the disorder. These new cases are known as sporadic primary pulmonary hypertension. Some of the sporadic cases are due to mutations in the BMPR2, but for many cases a gene mutation has not yet been identified.
Content Courtesy : ghr.nlm.nih.gov
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