Early Detection of Cardiac Amyloidosis in Transthyretin Mutation Carriers

• Nagano Nobutaka

  Department of Cardiovascular, Renal and Metabolic Medicine, Sapporo Medical University School of Medicine

• Muranaka Atsuko

  Department of Cardiovascular, Renal and Metabolic Medicine, Sapporo Medical University School of Medicine

• Nishikawa Ryo

  Department of Cardiovascular, Renal and Metabolic Medicine, Sapporo Medical University School of Medicine

• Ohwada Wataru

  Department of Cardiovascular, Renal and Metabolic Medicine, Sapporo Medical University School of Medicine

• Kouzu Hidemichi

  Department of Cardiovascular, Renal and Metabolic Medicine, Sapporo Medical University School of Medicine

• Kamiyama Naoyuki

  Department of Cardiovascular, Renal and Metabolic Medicine, Sapporo Medical University School of Medicine

• Fujito Takefumi

  Department of Cardiovascular, Renal and Metabolic Medicine, Sapporo Medical University School of Medicine

• Mochizuki Atsushi

  Department of Cardiovascular, Renal and Metabolic Medicine, Sapporo Medical University School of Medicine

• Nagahara Daigo

  Department of Cardiovascular, Renal and Metabolic Medicine, Sapporo Medical University School of Medicine Department of Infection Control and Laboratory Medicine, Sapporo Medical University School of Medicine

• Nakanishi Mitsuhiro

  Division of Radiology and Nuclear Medicine, Sapporo Medical University Hospital

• Ohkubo Yukiko

  Department of Neurology, Sapporo Nishimaruyama Hospital

• Hisahara Shin

  Department of Neurology, Sapporo Medical University School of Medicine

• Nakao Satoshi

  Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine

• Katoh Nagaaki

  Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine

• Ishikawa Aki

  Department of Medical Genetics, Liberal Arts and Science, Sapporo Medical University School of Medicine

• Sakurai Akihiro

  Department of Medical Genetics, Liberal Arts and Science, Sapporo Medical University School of Medicine

• Yano Toshiyuki

  Department of Cardiovascular, Renal and Metabolic Medicine, Sapporo Medical University School of Medicine

書誌事項

タイトル別名

• Case Series and Review of the Literature

抄録

Diagnostic strategies for symptomatic transthyretin (ATTR) cardiac amyloidosis showing typical morphological features such as increased ventricular wall thickness and myocardial injury such as an elevation in serum troponin T level have been established, but those for subclinical cardiac amyloidosis are limited. In the era when effective therapies to suppress/delay progression of ATTR cardiac amyloidosis are available, early detection of cardiac involvement plays a crucial role in appropriate decision-making for treatment in TTR mutation carriers who have a family history of heart failure and death due to ATTR amyloidosis. Findings of three cases with known pathogenic transthyretin (TTR) mutations (p.Ser70Arg, p.Phe53Val, and p.Val50Met) and family histories of death for amyloidosis were presented. Two cases were asymptomatic, and a case carrying p.Phe53Val had gastrointestinal symptoms and autonomic neuropathy. Levels of plasma N-terminal fragment of pro-B-type natriuretic peptide and troponin T were within normal ranges in all cases, but results of cardiac magnetic resonance (CMR) and bone scintigraphy clearly revealed the presence of cardiac involvement in all cases, even in a case without echocardiographic abnormalities including left ventricular hypertrophy and relative apical sparing of longitudinal strain shown by two-dimensional speckle-tracking echocardiography. Electrocardiography revealed modest abnormalities including reduced R wave amplitude in V2 and a trend toward left axis deviation in all cases. In conclusion, CMR, bone scintigraphy, and electrocardiography are useful for early detection of ATTR cardiac amyloidosis in TTR mutation carriers. The role of comprehensive cardiac assessment in the early detection of cardiac amyloidosis in TTR mutation carriers is discussed.

収録刊行物

• International Heart Journal

  International Heart Journal 63 (1), 168-175, 2022-01-29

  一般社団法人 インターナショナル・ハート・ジャーナル刊行会

キーワード

• Troponin
• Transthyretin amyloidosis
• ATTR amyloidosis
• Bone scintigraphy
• Cardiac magnetic resonance
• Electrocardiography

詳細情報

• CRID: 1390290929785432448
• NII論文ID: 130008145711
• DOI: 10.1536/ihj.21-336
• ISSN: 13493299
• ISSN: 13492365
• Web Site: https://www.jstage.jst.go.jp/article/ihj/63/1/63_21-336/_pdf
• 本文言語コード: en
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