Heritable Pulmonary Arterial Hypertension Overview

In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].


The purpose of this overview is to increase the awareness of clinicians regarding genetic causes of heritable pulmonary arterial hypertension (HPAH) and related genetic counseling issues.

The goals of this overview are the following:

Goal 1: Describe the clinical characteristics of HPAH.

Goal 2: Review the genetic causes of HPAH.

Goal 3: Provide an evaluation strategy to identify the genetic cause of HPAH in a proband (when possible).

Goal 4: Inform genetic risk assessment and surveillance of at-risk relatives for detection of early treatable manifestations of HPAH.

Goal 5: Review a high-level view of management of HPAH.

Publication types

  • Review