## Communicated by Maria Rita Passos-Bueno Pulmonary arterial hypertension (PAH) is clinically characterized by a sustained elevation in mean pulmonary artery pressure leading to significant morbidity and mortality. The disorder is typically sporadic, and in such cases the term idiopathic PAH (IPAH
Pre-implantation genetic diagnosis in pulmonary arterial hypertension due to BMPR2 mutation
โ Scribed by Frydman, N.; Steffann, J.; Girerd, B.; Frydman, R.; Munnich, A.; Simonneau, G.; Humbert, M.
- Book ID
- 120482297
- Publisher
- European Respiratory Society
- Year
- 2012
- Tongue
- English
- Weight
- 220 KB
- Volume
- 39
- Category
- Article
- ISSN
- 0903-1936
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๐ SIMILAR VOLUMES
## Abstract Pulmonary arterial hypertension (PAH) and hereditary hemorrhagic telangiectasia (HHT) are distinct clinical entities caused by germline mutations in genes encoding members of the TGFฮฒ/BMP superfamily: __BMPR2__ in PAH and __ACVRL1__, __ENG__, or __SMAD4__ in HHT. When PAH and HHT occasi
Mutations of the BMPR2 gene predispose to pulmonary arterial hypertension (PAH), a serious, progressive disease of the pulmonary vascular system. However, despite the fact that most PAH families are consistent with linkage to the BMPR2 locus, sequencing only identifies mutations in some 55% of famil