Late-onset Hereditary ATTR Amyloidosis with a Novel p.P63S (P43S) Transthyretin Variant

Autor:	Aono, Yuya, Hamatani, Yasuhiro, Katoh, Nagaaki, Nakagawa, Mayuko, Nakamura, Katsuya, Yazaki, Masahide, Kametani, Fuyuki, Iguchi, Moritake, Murakami, Ikuko, Ogawa, Hisashi, Abe, Mitsuru, Akao, Masaharu, Sekijima, Yoshiki
Jazyk:	angličtina
Rok vydání:	2020
Předmět:	Aged 80 and over Male Amyloid Neuropathies Familial Phenotype hereditary ATTR amyloidosis Echocardiography Humans Prealbumin Case Report Genetic Testing cardiomyopathy transthyretin Aged
Zdroj:	Internal Medicine
ISSN:	1349-7235 0918-2918
Popis:	The patient was an 82-year-old Japanese man with no family history suggestive of amyloidosis. He developed bilateral leg edema and shortness of breath and was referred to our hospital. An electrocardiogram showed atrial fibrillation with right bundle branch block. Echocardiography showed concentric LV hypertrophy. An endomyocardial biopsy showed severe ATTR amyloid deposits. A genetic analysis of the transthyretin (TTR) gene revealed a heterozygous c.187C＞T missense variant resulting in p.P63S (P43S). In silico analyses predicted that this variant only modestly altered the structure and function of the TTR protein. The p.P63S variant might be associated with an elderly-onset cardiac-dominant ATTRv phenotype.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::3e093924c29fb42d03c4c53bdd6ff997 http://europepmc.org/articles/PMC7946494 Zobrazit plný text záznamu