Significance of genetic mutation in pulmonary hypertension and its relationship with right ventricular failure

2019 Fiscal Year Final Research Report

• Project/Area Number: 17K09525
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Cardiovascular medicine
• Research Institution: Tokai University (2019); Keio University (2017-2018)
• Principal Investigator: MURATA Mitsushige 東海大学, 医学部, 教授 (30317135)
• Project Period (FY): 2017-04-01 – 2020-03-31
• Keywords: 右室機能 / 肺高血圧

Outline of Final Research Achievements

The carrier of bone morphogenetic protein (BMP) type II receptor (BMPR-II) mutation implicates poor prognosis in pulmonary hypertension. However, we previously reported that the prognosis after combination therapy would be better in mutation carrier than in noncarrier. In this study, an analysis of 26 cases of idiopathic pulmonary hypertension (IPAH) (7 cases with BMPR2 gene mutation positive and 19 cases with negative) showed that baseline right ventricular function was better in carrier than in noncarrier, but the right ventricular function after combination therapy was significantly better in the carrier than in the noncarrier.

Free Research Field

循環器内科

Academic Significance and Societal Importance of the Research Achievements

右室機能は、肺高血圧症において独立した予後規定因子であることが報告されている。しかし、治療により右室機能がどのように改善するか不明である。Bone morphogenetic protein (BMP) type II receptor (BMPR-II)遺伝子異常を有すると予後不良として知られているが、本研究では、BMPR-II遺伝子異常は薬剤による右室機能改善に影響がある可能性を示した。