A Single-Kindred Cluster of Val122Ile Transthyretin Amyloid Cardiomyopathy: Subclinical Case Series of Three Japanese Patients

DOI Web Site 参考文献29件
  • Tsuruda Toshihiro
    Cardiorenal Research Laboratory, Department of Hemo-Vascular Advanced Medicine, Faculty of Medicine, University of Miyazaki, Japan Division of Cardiovascular Medicine and Nephrology, Department of Internal Medicine, Faculty of Medicine, University of Miyazaki, Japan
  • Tanahashi Toshihiro
    Division of Cardiovascular Medicine and Nephrology, Department of Internal Medicine, Faculty of Medicine, University of Miyazaki, Japan
  • Kodama Narukuni
    Division of Cardiovascular Medicine and Nephrology, Department of Internal Medicine, Faculty of Medicine, University of Miyazaki, Japan
  • Suiko Yosuke
    Division of Cardiovascular Medicine and Nephrology, Department of Internal Medicine, Faculty of Medicine, University of Miyazaki, Japan
  • Komaki Soichi
    Division of Cardiovascular Medicine and Nephrology, Department of Internal Medicine, Faculty of Medicine, University of Miyazaki, Japan
  • Yamamoto Kinuko
    Division of Cardiovascular Medicine and Nephrology, Department of Internal Medicine, Faculty of Medicine, University of Miyazaki, Japan
  • Moribayashi Kohei
    Division of Cardiovascular Medicine and Nephrology, Department of Internal Medicine, Faculty of Medicine, University of Miyazaki, Japan
  • Terakawa Chiharu
    Division of Clinical Genetics, Faculty of Medicine, University of Miyazaki Hospital, Japan
  • Sakai Katsuya
    Division of Respirology, Rheumatology, Infectious Diseases and Neurology, Department of Internal Medicine, Faculty of Medicine, University of Miyazaki, Japan
  • Iwai Minayo
    Division of Clinical Genetics, Faculty of Medicine, University of Miyazaki Hospital, Japan
  • Terada Tamasa
    Department of Radiology, Faculty of Medicine, University of Miyazaki, Japan
  • Shiomi Kazutaka
    Division of Respirology, Rheumatology, Infectious Diseases and Neurology, Department of Internal Medicine, Faculty of Medicine, University of Miyazaki, Japan
  • Nakada Hiroshi
    Department of Radiology, Faculty of Medicine, University of Miyazaki, Japan
  • Tanaka Miyo
    Heart Center, Faculty of Medicine, University of Miyazaki Hospital, Japan
  • Yamashita Atsushi
    Department of Pathology Faculty of Medicine, University of Miyazaki, Japan
  • Iida Hiroyuki
    Iida Orthopaedic Clinic Iida Hospital, Japan
  • Matsuura Yunosuke
    Division of Cardiovascular Medicine and Nephrology, Department of Internal Medicine, Faculty of Medicine, University of Miyazaki, Japan
  • Kaikita Koichi
    Division of Cardiovascular Medicine and Nephrology, Department of Internal Medicine, Faculty of Medicine, University of Miyazaki, Japan
  • Ogata Miyuki
    Heart Center, Faculty of Medicine, University of Miyazaki Hospital, Japan

書誌事項

公開日
2026
バージョン
1
DOI
  • 10.2169/internalmedicine.6926-25
公開者
一般社団法人 日本内科学会

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説明

<p>Transthyretin Val122Ile variant carriers are at risk of developing heart failure, with this variant being observed in individuals of Western African ancestry. We encountered three patients carrying this variant in a single kindred from southern Japan. The detection of amyloid in the carpal tunnel tissue prompted comprehensive clinical evaluation, confirming cardiac involvement. Speckle-tracking echocardiography and cardiac magnetic resonance imaging revealed age-related progression of myocardial involvement predominantly affecting the basal inferoseptum. The transthyretin Val122Ile variant is associated with poor clinical outcomes. Clinicians should be aware that this variant can also be sporadically present in elderly Japanese patients with cardiomyopathy or heart failure. </p>

収録刊行物

  • Internal Medicine

    Internal Medicine advpub (0), 2026

    一般社団法人 日本内科学会

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