Hereditary ATTR Amyloidosis with Cardiomyopathy Caused by the Novel Variant Transthyretin Y114S (p.Y134S)

We report the clinical features of a patient with hereditary transthyretin (ATTR) amyloidosis associated with a novel mutation (Y114S, p.Y134S). A 65-year-old Japanese man was admitted to our hospital after a 3-year history of progressive dyspnea on exertion. Five years previously, he presented dyse...

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Detalles Bibliográficos
Autores principales: Nakase, Taku, Yamashita, Taro, Matsuo, Yoshimasa, Nomura, Toshiya, Sasada, Keiko, Masuda, Teruaki, Misumi, Yohei, Takamatsu, Kotaro, Oda, Seitaro, Furukawa, Yutaro, Obayashi, Konen, Matsui, Hirotaka, Ando, Yukio, Ueda, Mitsuharu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6794161/
https://www.ncbi.nlm.nih.gov/pubmed/31178489
http://dx.doi.org/10.2169/internalmedicine.2456-18
Descripción
Sumario:We report the clinical features of a patient with hereditary transthyretin (ATTR) amyloidosis associated with a novel mutation (Y114S, p.Y134S). A 65-year-old Japanese man was admitted to our hospital after a 3-year history of progressive dyspnea on exertion. Five years previously, he presented dysesthesia in both hands caused by carpal tunnel syndrome. A genetic analysis revealed a base pair substitution of adenine to cytosine in the second codon of exon 4, residue 114, in the TTR gene (c.401A>C). The clinical characteristics were progressive cardiomyopathy with a poor vital prognosis, late onset, sporadic case, bilateral carpal tunnel syndrome, hypothyroidism, and small fiber neuropathy.

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