A Case of Idiopathic Pulmonary Arterial Hypertension with a BMPR2 Mutation / 대한내과학회지
Korean Journal of Medicine
;
: 238-242, 2012.
Article
in Korean
| WPRIM
| ID: wpr-96836
ABSTRACT
Here, we describe the case of a 43-year-old male who was diagnosed with idiopathic pulmonary arterial hypertension and a mutation in the gene encoding bone morphogenetic protein receptor type 2 (BMPR2). The subject presented with hemoptysis and dyspnea on exertion and was diagnosed with pulmonary arterial hypertension. Genetic analysis revealed a novel deletion (c.1042_1047delGTTATT) in exon 8 of BMPR2. To the best of our knowledge, this is the first reported case of a BMPR2 mutation in a Korean patient with pulmonary arterial hypertension.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Exons
/
Bone Morphogenetic Proteins
/
Dyspnea
/
Hemoptysis
/
Hypertension
/
Hypertension, Pulmonary
Limits:
Adult
/
Humans
/
Male
Language:
Korean
Journal:
Korean Journal of Medicine
Year:
2012
Type:
Article
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