The investigation of etiology and disease modifier factors in hypertrophic cardiomyopathy

2015 Fiscal Year Final Research Report

• Project/Area Number: 23591049
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Research Field: Circulatory organs internal medicine
• Research Institution: Kochi University
• Principal Investigator: Kubo Toru 高知大学, 教育研究部医療学系臨床医学部門, 講師 (80325422)
• Co-Investigator(Kenkyū-buntansha): KITAOKA HIROAKI 高知大学, 教育研究部医療学系臨床医学部門, 教授 (10274375) ; DOI YOSHINORI 高知大学, 教育研究部医療学系臨床医学部門, 教授 (90140144)
• Project Period (FY): 2011-04-28 – 2016-03-31
• Keywords: 肥大型心筋症 / 遺伝子変異 / サルコメア遺伝子 / 血液マーカー / トロポニン / 性差

Outline of Final Research Achievements

(1) Investigation of etiology and disease modifier factors in hypertrophic cardiomyopathy (HCM): We performed genetic analysis in patients with HCM and reported double sarcomere mutations in HCM patients as first Japanese cases. We identified one of disease modifier factors, that is gender differences, and found that female patients with MYBPC3 were more symptomatic at diagnosis and had more frequent heart failure events once they had developed hypertrophy.
(2) Investigation of prognostic biomarkers in HCM: We focused on biomarkers including brain natriuretic peptide, cardiac troponins, tenascin-C, etc., and found that these biomarkers were useful to predict outcome in patients with HCM. Furthermore, we reported that tissue Doppler indeces on echocardiography were useful to predict clinical outcome even in asymptomatic or mildly symptomatic patiients with HCM.

Free Research Field

心筋症