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Scientific article
English

BMPR2 mutation is a potential predisposing genetic risk factor for congenital heart disease associated pulmonary vascular disease

ContributorsLiu, Dong; Liu, Qian-Qian; Guan, Li-Hua; Jiang, Xin; Zhou, Da-Xin; Beghetti, Maurice; Qu, Jie-Ming; Jing, Zhi-Cheng
Published inInternational Journal of Cardiology, vol. 211, p. 132-136
Publication date2016
Abstract

Pulmonary arterial hypertension (PAH) frequently arises in patients with congenital heart disease (CHD) and can lead to pulmonary vascular disease (PVD). The present study was initiated to distinguish the predisposing effect of bone morphogenetic protein receptor 2 (BMPR2) in CHD by comparing the different mutation features of BMPR2 between CHD patients with or without PVD.

Keywords
  • Adolescent
  • Adult
  • Bone Morphogenetic Protein Receptors
  • Type II/genetics
  • Female
  • Genetic Predisposition to Disease/epidemiology/genetics
  • Heart Defects
  • Congenital/diagnosis/epidemiology/genetics
  • Humans
  • Male
  • Middle Aged
  • Mutation/genetics
  • Risk Factors
  • Vascular Resistance/genetics
  • Young Adult
Affiliation entities
Research groups
Citation (ISO format)
LIU, Dong et al. BMPR2 mutation is a potential predisposing genetic risk factor for congenital heart disease associated pulmonary vascular disease. In: International Journal of Cardiology, 2016, vol. 211, p. 132–136. doi: 10.1016/j.ijcard.2016.02.150
Main files (1)
Article (Published version)
accessLevelRestricted
Identifiers
Journal ISSN0167-5273
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Update15/03/2023 02:00:19
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