Genotype and phenotype analysis in arrhythmia induced or related cardiomyopathy

2020 Fiscal Year Final Research Report

• Project/Area Number: 18K08035
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Multi-year Fund
• Section: 一般
• Review Section: Basic Section 53020:Cardiology-related
• Research Institution: Osaka University
• Principal Investigator: Ohtani Tomohito 大阪大学, 医学系研究科, 講師 (30623897)
• Project Period (FY): 2018-04-01 – 2021-03-31
• Keywords: 心筋症 / 不整脈 / 頻脈 / 遺伝的素因 / ミトコンドリア機能 / 心筋可塑性

Outline of Final Research Achievements

Pathogenic, likely pathogenic, or deleterious variants in the cardiomyopathy-related genes reported in dilated cardiomyopathy were detected in some patients with arrhythmia-induced cardiomyopathy. The frequency was not high and similarly to dilated cardiomyopathy, whereas the numbers of detected variants in each patient were different.
The assessments with 99m-technetium-MIBI scintigraphy revelated that the reversibility of myocardial function in arrhythmia-induced cardiomyopathy was associated with not mitochondria dysfunction reflected wash-out rate but myocardial injury evaluated by the indices of %uptakes. This result indicates that the perfusion index of %uptake combined with arrhythmic information may become a helpful marker for differentiating arrhythmia-induced cardiomyopathy from dilated cardiomyopathy with less reversible myocardium.

Free Research Field

循環器学

Academic Significance and Societal Importance of the Research Achievements

不整脈や頻脈という環境因子により心筋症が発症する人としない人が存在するが、未だ明らかになっていないその発症の差異をもたらす個人差の解明につながっていく研究成果である。アルコールや妊娠などの他の環境因子と同じような疾患発症病態の存在が不整脈と関連する心筋症においても示唆され、研究の発展により将来の心筋症の発症リスクや発症予防、治療法の開発に発展することが期待される。