Cardiac amyloidosis associated with a novel transthyretin aspartic acid-18 glutamic acid de novo mutation.
A 40-year-old man presented with initial symptoms of syncope caused by restrictive cardiomyopathy and autonomic nervous system impairment, but it was confirmed that he had a novel transthyretin (TTR) variant, aspartic acid-18 glutamic acid (Glu), and a de novo gene mutation. A polymerase chain reaction-induced mutation restriction analysis with a mismatched sense primer demonstrated that he was heterozygous for TTR Glu 18. Liver transplantation was not performed because of profound weakness and severe postural hypotension. Right-sided heart failure predominated in association with low output syndrome and a gradual decrease in total QRS voltage on electrocardiogram over 5 years of follow-up. Autonomic neuropathy developed and he eventually died of both-sided heart failure at the age of 45 years. Immunohistochemical and DNA studies are important to diagnose and treat TTR-related cardiac amyloidosis.
Imamura
Takuroh
T
First Department of Internal Medicine, Miyazaki Medical College, Kiyotake, Japan. imatak@post.miyazaki-med.ac.jp
Nakazato
Masamitsu
M
Date
Yukari
Y
Komatsu
Hiroyuki
H
Ashizuka
Shinya
S
Aoyama
Fumiyo
F
Sumi
Motoko
M
Tsuruda
Toshihiro
T
Ishikawa
Tetsunori
T
Hirayama
Naoteru
N
Matsuo
Takeshi
T
Eto
Tanenao
T
D000328:Adult; D000686:Amyloidosis / Q000235:genetics*; D002313:Cardiomyopathy, Restrictive / Q000209:etiology / Q000235:genetics*; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D014644:Genetic Variation / Q000502:physiology; D006333:Heart Failure; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000502:physiology*; D011228:Prealbumin / Q000235:genetics*
D011228:Prealbumin