Genetic Clues to the Cause of Primary Pulmonary Hypertension

Abstract

Primary pulmonary hypertension is a devastating disease that is invariably fatal without definitive therapy. The disorder is more appropriately called a syndrome, since it is characterized by a set of clinical and pathophysiological features common to a variety of underlying causes. The proposed causes of primary pulmonary hypertension range widely, from environmental (e.g., hypoxia) to autoimmune (e.g., systemic lupus erythematosus) to drug related (e.g., dexfenfluramine use). Although genetic determinants no doubt indirectly influence the propensity for primary pulmonary hypertension to develop in response to these factors, a heritable form of primary pulmonary hypertension, familial primary pulmonary hypertension, has also been . . .