Korean J Med.  2010 Jan;78(1):20-27.

Genetics in heritable pulmonary arterial hypertension

• Lee YJ

Abstract

Pulmonary arterial hypertension is caused by vascular remodeling including muscularization of arteries, loss of small precapillary arteries, and formation of neointima and plexiform lesion, resulting in a progressive increase in pulmonary vascular resistance. About 70% of heritable pulmonary arterial hypertension and 10% to 40% of idiopathic pulmonary arterial hypertension patients possess mutations in bone morphogenetic protein receptor, type 2 (BMPR2), which is a type II receptor of TGF-beta superfamily. Very rarely, mutations in another receptors of TGF-beta superfamily, activin-like kinase-type 1 (ALK1) and endoglin (ENG) are found in pulmonary arterial hypertension patients with hereditary hemorrhagic telangiectasia. Genetic screening is useful to identify family members who are mutation carriers in heritable pulmonary arterial hypertension families.

Keyword

Pulmonary arterial hypertension; BMPR2 receptor; ALK1 receptor, human; ENG receptor, human; Genetic screening

MeSH Terms

Arteries
Bone Morphogenetic Protein Receptors, Type II
Bone Morphogenetic Proteins
Genetic Testing
Humans
Hypertension
Hypertension, Pulmonary
Neointima
Telangiectasia, Hereditary Hemorrhagic
Transforming Growth Factor beta
Vascular Resistance
Bone Morphogenetic Protein Receptors, Type II
Bone Morphogenetic Proteins
Hypertension, Pulmonary
Transforming Growth Factor beta