Genetics of pulmonary hypertension

D Hunter Best1, Eric D Austin, Wendy K Chung

  • 1aDepartment of Pathology, University of Utah School of Medicine bARUP Laboratories, ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, Utah cDepartment of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee dDepartments of Pediatrics and Medicine, Columbia University Medical Center, New York, New York eDepartment of Medicine, Intermountain Medical Center, Murray fDepartment of Medicine, University of Utah School of Medicine, Salt Lake City, Utah, USA.

Summary

Genetic discoveries have identified the basis for heritable pulmonary arterial hypertension (PAH). Understanding these genetic links, including BMPR2 mutations, aids patient care and genetic testing decisions.

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