An Isolated Case of Late-onset Amyloidogenic Transthyretin Type Familial Amyloid Polyneuropathy Associated with a Mutant Transthyretin Substituting Methionine for Valine at Position 30 Showing Latent Progressive Cardiac Involvement Confirmed by Serial Annual Electrocardiograms

Chikako Sato; Tomofumi Takaya; Shumpei Mori; Kohei Hasegawa; Fumitaka Soga; Hidekazu Tanaka; Yoshiaki Watanabe; Tatsuya Nishii; Atsushi K. Kono; Yukiko Morinaga; Hatsue Ishibashi-Ueda; Ken-ichi Hirata

doi:10.2169/internalmedicine.56.7562

CASE REPORTS

An Isolated Case of Late-onset Amyloidogenic Transthyretin Type Familial Amyloid Polyneuropathy Associated with a Mutant Transthyretin Substituting Methionine for Valine at Position 30 Showing Latent Progressive Cardiac Involvement Confirmed by Serial Annual Electrocardiograms

Chikako Sato, Tomofumi Takaya, Shumpei Mori, Kohei Hasegawa, Fumitaka Soga, Hidekazu Tanaka, Yoshiaki Watanabe, Tatsuya Nishii, Atsushi K. Kono, Yukiko Morinaga, Hatsue Ishibashi-Ueda, Ken-ichi Hirata

Author information

Chikako Sato
Division of Cardiovascular Medicine, Department of Internal Medicine, Kobe University Graduate School of Medicine, Japan
Tomofumi Takaya
Division of Cardiovascular Medicine, Department of Internal Medicine, Kobe University Graduate School of Medicine, Japan
Shumpei Mori
Division of Cardiovascular Medicine, Department of Internal Medicine, Kobe University Graduate School of Medicine, Japan
Kohei Hasegawa
Division of Cardiovascular Medicine, Department of Internal Medicine, Kobe University Graduate School of Medicine, Japan
Fumitaka Soga
Division of Cardiovascular Medicine, Department of Internal Medicine, Kobe University Graduate School of Medicine, Japan
Hidekazu Tanaka
Division of Cardiovascular Medicine, Department of Internal Medicine, Kobe University Graduate School of Medicine, Japan
Yoshiaki Watanabe
Department of Radiology, Kobe University Graduate School of Medicine, Japan
Tatsuya Nishii
Department of Radiology, Kobe University Graduate School of Medicine, Japan
Atsushi K. Kono
Department of Radiology, Kobe University Graduate School of Medicine, Japan
Yukiko Morinaga
Department of Diagnostic Pathology, Kobe University Graduate School of Medicine, Japan
Hatsue Ishibashi-Ueda
Department of Clinical Pathology, National Cerebral and Cardiovascular Center, Japan
Ken-ichi Hirata
Division of Cardiovascular Medicine, Department of Internal Medicine, Kobe University Graduate School of Medicine, Japan

Keywords: amyloidogenic transthyretin, cardiac amyloidosis, electrocardiogram, familial amyloid polyneuropathy, senile systemic amyloidosis, Val30Met

JOURNAL OPEN ACCESS

2017 Volume 56 Issue 2 Pages 163-168

DOI https://doi.org/10.2169/internalmedicine.56.7562

Details

Abstract

Late-onset amyloidogenic transthyretin (ATTR) type familial amyloid polyneuropathy (FAP) shows features distinct from those of early-onset hereditary ATTR type FAP. We herein describe an asymptomatic 68-year-old man with late-onset ATTR type FAP whose serial annual electrocardiograms demonstrated progressive left bundle branch block. Latent but severe cardiac involvement seems to be one feature of late-onset ATTR type FAP, similar to senile systemic amyloidosis (SSA). Early differential diagnosis of late-onset ATTR type FAP from SSA is important because, currently, only the former has new therapeutic options available in Japan. The present case report, therefore, highlights the necessity of careful observation for periodic electrocardiograms.

Corresponding author

Register with J-STAGE for free!