Genetic Considerations

Familial primary pulmonary hypertension typically shows an autosomal dominant mode of inheritance and reduced penetrance and is more common in women than in men. Autosomal recessive transmission has also been documented. When pulmonary hypertension is inherited, it demonstrates the genetic concept of anticipation, where subsequent generations often have severe cases of the disease. Pulmonary hypertension is also seen in conjunction with other genetic problems such as hereditary hemorrhagic telangiectasia type 2. Mutations in the BMPR2 gene are associated with both heritable and sporadic forms of the disease, but for many cases, a gene mutation has not yet been identified.

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