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Review

Heritable Pulmonary Arterial Hypertension Overview

Eric D Austin  1 , John A Phillips III  2 , James E Loyd  3
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
[updated ].
Affiliations
Free Books & Documents
Review

Heritable Pulmonary Arterial Hypertension Overview

Eric D Austin et al.
Free Books & Documents

Excerpt

The purpose of this overview is to:

  1. 1

    Describe the clinical characteristics of heritable pulmonary arterial hypertension (HPAH);

  2. 2

    Review the genetic causes of HPAH;

  3. 3

    Provide an evaluation strategy to identify the genetic cause of HPAH in a proband (when possible);

  4. 4

    Review a high-level view of management of HPAH;

  5. 5

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

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