Heritable Pulmonary Arterial Hypertension Overview

Eric D Austin; John A Phillips III; James E Loyd

Heritable Pulmonary Arterial Hypertension Overview

Review

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

2002 Jul 18 [updated 2020 Dec 23].

Authors

Eric D Austin¹, John A Phillips III², James E Loyd³

Book Editors

Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Lora JH Bean, Karen W Gripp, Anne Amemiya

Affiliations

¹ Pediatric Pulmonary Medicine Vanderbilt University Medical Center Nashville, Tennessee
² Division of Medical Genetics Vanderbilt University Medical Center Nashville, Tennessee
³ Allergy, Pulmonary, and Critical Care Medicine Vanderbilt University Medical Center Nashville, Tennessee

PMID: 20301658
Bookshelf ID: NBK1485

Excerpt

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.

Sections

Publication types

Review