pulmonary hypertension, primary, type 1


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pulmonary hypertension, primary, type 1

A rare disorder (OMIM:178600) characterised by plexiform lesions of proliferating endothelial cells in pulmonary arterioles, leading to elevated pulmonary arterial pressure, right ventricular failure and death. The disease can occur at any age from infancy onward, but has a mean age of onset at 36 years. Cases secondary to known aetiologies are the more common cause of pulmonary hypertension, and include those associated with appetite-suppressant drugs.

Molecular pathology
May be caused by defects of SMAD9, which encodes a receptor-regulated SMAD, transducing signals from TGF-beta family members.
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