Genetics of pulmonary arterial hypertension

C Gregory Elliott

doi:10.1016/j.ccm.2013.08.003

Genetics of pulmonary arterial hypertension

Clin Chest Med. 2013 Dec;34(4):651-63. doi: 10.1016/j.ccm.2013.08.003.

Author

C Gregory Elliott¹

Affiliation

¹ Department of Medicine, Intermountain Medical Center, 5121 South Cottonwood Street, Suite 307, Murray, UT 84107, USA; Department of Internal Medicine, University of Utah School of Medicine, 30 N. 1900 E, Salt Lake City, UT 84132, USA. Electronic address: greg.elliott@imail.org.

PMID: 24267296
DOI: 10.1016/j.ccm.2013.08.003

Abstract

Painstaking research led to the discovery of gene mutations responsible for heritable forms of pulmonary arterial hypertension (PAH). Mutations in the gene BMPR2, which codes for a cell surface receptor (BMPRII), cause the approximately 80% of heritable cases of PAH. Less commonly mutations in ALK1, CAV1, ENG, and SMAD9, and newly discovered mutations in KCNK3, may cause heritable PAH. Other family members of many patients diagnosed with idiopathic PAH may be diagnosed with PAH. Genetic counseling and testing should be offered to patients diagnosed with heritable or idiopathic PAH.

Keywords: Activin-like kinase receptor; Bone morphogenetic protein receptor; Caveolin; Endoglin; Genetics; Pulmonary arterial hypertension; SMAD9; Voltage gated potassium channel.

Publication types

Review

MeSH terms

Age of Onset
Bone Morphogenetic Protein Receptors, Type II / genetics*
Chromosomes, Human, Pair 2
Familial Primary Pulmonary Hypertension
Female
Humans
Hypertension, Pulmonary / genetics*
Male
Mutation
Pedigree

Substances

Bone Morphogenetic Protein Receptors, Type II