The BMPR2, ALK1 and ENG Genes Mutation in Congenital Heart DiseaseAssociated Pulmonary Artery Hypertension

https://doi.org/10.22146/aci.50222

Anggoro Budi Hartopo(1*), Dyah Wulan Anggrahini(2), Noriaki Emoto(3), Lucia Kris Dinarti(4)

(1) Department of Cardiology and Vascular Medicine, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada / Dr. Sardjito Hospital, Yogyakarta
(2) Department of Cardiology and Vascular Medicine, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada / Dr. Sardjito Hospital, Yogyakarta
(3) Laboratory of Clinical Pharmaceutical Science, Kobe Pharmaceutical University, Kobe
(4) Department of Cardiology and Vascular Medicine, Faculty of Medicine, Public Health and Nursing, Universitas Gadjah Mada / Dr. Sardjito Hospital, Yogyakarta
(*) Corresponding Author

Abstract


The gene mutation is one of the background underlie the pathogenesis of pulmonary artery hypertension (PAH). Several genes have been recognized to be responsible for the development of PAH. The mutation in transforming growth factor-β (TGF-β) pathway is considered to be major genotype background in heritable PAH. The genetic mutation in bone morphogenetic protein receptor-2 (BMPR2), activin receptor-like kinase 1 (ALK-1) and endoglin (ENG) are known to cause heritable PAH. In congenital heart disease–associated PAH (CHDAPAH), their mutation are also presence.


Keywords


gene mutation; pulmonary artery hypertension; congenital heart disease– associated PAH

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DOI: https://doi.org/10.22146/aci.50222

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Copyright (c) 2019 Anggoro Budi Hartopo, Dyah Wulan Anggrahini, Noriaki Emoto, Lucia Kris Dinarti

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