Narrative Review: The Enigma of Pulmonary Arterial Hypertension: New Insights from Genetic Studies

摘要

When pulmonary arterial hypertension (PAH) is not caused by other illnesses, its etiology is a mystery that is now beginning to be solved. Inherited susceptibility to PAH occurs in families, and researchers report a strong association between PAH and mutations in a receptor in the gene for a transforming growth factor that regulates cell growth (transforming growth factor-β [TGF-β]). Newman and colleagues describe the research that led to this discovery and treatment opportunities. The evidence increasingly suggests that idiopathic PAH is caused by an imbalance of TGF-β receptor signals that promote or retard vascular intimal proliferation.