Genetics in heritable pulmonary arterial hypertension / 대한내과학회지
Korean Journal of Medicine
;
: 20-27, 2010.
Article
in Korean
| WPRIM
| ID: wpr-179463
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Arteries
/
Telangiectasia, Hereditary Hemorrhagic
/
Vascular Resistance
/
Genetic Testing
/
Transforming Growth Factor beta
/
Bone Morphogenetic Proteins
/
Bone Morphogenetic Protein Receptors, Type II
/
Neointima
/
Hypertension
/
Hypertension, Pulmonary
Type of study:
Prognostic study
Limits:
Humans
Language:
Korean
Journal:
Korean Journal of Medicine
Year:
2010
Type:
Article
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