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Genetics and Pulmonary Hypertension^*

^* From the Department of Pulmonary and Critical Care Medicine, Vanderbilt Medical Center North, Nashville, TN.

Correspondence to: James E. Loyd, MD, Professor of Allergy, the Department of Pulmonary and Critical Care Medicine, Room T1219, Vanderbilt Medical Center North, Nashville, TN 37232; e-mail: Jim.Loyd{at}Vanderbilt.edu

Primary pulmonary hypertension (PPH) is a serious pulmonary vascular disease occurring mostly in adult women. Although its occurrence in families was reported within a few years after the original clinical report, PPH was formerly believed rarely to have a genetic basis. Recent progress has not only clarified a basic molecular mechanism for PPH in families, but has also identified mutations of the same gene in many sporadic PPH patients, suggesting that its basis is commonly genetic. Extensive investigations in many centers are now in progress to provide a complete dissection of all the pathogenetic mechanisms of PPH.

Key Words: cell surface receptors • epidemiology • genetics • germ-line mutation • hemodynamics • linkage • protein-serine-threonine kinases • pulmonary hypertension