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

Liu, Dong; Liu, Qian-Qian; Guan, Li-Hua; Jiang, Xin; Zhou, Da-Xin; Beghetti, Maurice; Qu, Jie-Ming; Jing, Zhi-Cheng

doi:10.1016/j.ijcard.2016.02.150

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

Faculté de médecine / Section de médecine clinique / Département de pédiatrie, gynécologie et obstétrique

Research groups

L'hypertension pulmonaire (pédiatrie) (228)

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

Article (Published version)

Identifiers

PID : unige:96724
DOI : 10.1016/j.ijcard.2016.02.150
PMID : 27002414

Journal ISSN0167-5273

433views

0downloads

Creation14/09/2017 16:03:00

First validation14/09/2017 16:03:00

Update time15/03/2023 03:00:19

Status update15/03/2023 03:00:19

Last indexation31/10/2024 08:44:45

Archive ouverte UNIGE

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

Technical informations