Elucidation of the pathological and genetic background of Marfan syndrome and related disorders and establishment of treatments.

2022 Fiscal Year Final Research Report

• Project/Area Number: 18K15909
• Research Category: Grant-in-Aid for Early-Career Scientists
• Allocation Type: Multi-year Fund
• Review Section: Basic Section 53020:Cardiology-related
• Research Institution: National Cardiovascular Center Research Institute
• Principal Investigator: Yagyu Takeshi 国立研究開発法人国立循環器病研究センター, 病院, 医師 (80794867)
• Project Period (FY): 2018-04-01 – 2023-03-31
• Keywords: マルファン症候群 / エーラスダンロス症候群 / 大動脈瘤 / 大動脈解離 / 遺伝子検査

Outline of Final Research Achievements

The clinical course of patients with Marfan syndrome and its related disorders in Japan was presented. Compared to Marfan syndrome, Loeys-Dietz syndrome had a significantly higher recurrent event rate, and vascular Ehlers-Danlos syndrome had a significantly lower rate of aortic dissection in women. It was also suggested that serum type III procollagen N-terminal peptide could be used as a disease biomarker in vascular Ehlers-Danlos syndrome. In addition, the positive rate of genetic testing (panel analysis) and the composition of causative genes in patients with suspected Marfan syndrome and its related disorders in Japan were presented.

Free Research Field

循環器内科学

Academic Significance and Societal Importance of the Research Achievements

本邦において、マルファン症候群及びその類縁動脈疾患症例の臨床経過や遺伝学的検査の十分な症例数での報告は多くない。そのため、本研究の内容は診療エビデンスとして重要であり、今後の診療に利するものである。また本疾患群においては臨床上有用な疾患バイオマーカーの報告は多くなく、その点においても本研究結果は重要である。