Late onset cardiomyopathy due to transthyretin Ile68Leu mutation: a cardiogenic variant of familial amyloidosis potentially mimicking sarcomeric hypertrophic cardiomyopathy

被引：0
|
作者：
Quarta, C. [1 ]
Longhi, S. [1 ]
Cappelli, F. [2 ]
Perfetti, F. [2 ]
Ferlini, A. [3 ]
Perlini, S. [4 ]
Cinelli, M. M. [1 ]
Gentile, N. [1 ]
Merlini, G. [4 ]
Rapezzi, C. [1 ]
机构：
[1] Inst Cardiol, Bologna, Italy
[2] Careggi Univ Hosp, Florence, Italy
[3] Univ Ferrara, Dept Clin & Expt Med, I-44100 Ferrara, Italy
[4] Biotechnol Labs IRCCS San Matteo, Ctr Amyloidosis, Pavia, Italy
来源：
EUROPEAN HEART JOURNAL | 2013年 / 34卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：528 / 528
页数：1
相关论文
共 5 条
  • [1] Neurological involvement in Ile68Leu (p.Ile88Leu) ATTR amyloidosis: not only a cardiogenic mutation
    Pastorelli, Francesca
    Fabbri, Gioele
    Rapezzi, Claudio
    Serenelli, Matteo
    Plasmati, Rosaria
    Vacchiano, Veria
    Ferlini, Alessandra
    Manfrini, Marco
    Salvi, Fabrizio
    AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 2021, 28 (03): : 173 - 181
  • [2] Transthyretin variants in late-onset cardiac amyloidosis: Distinguishing familial amyloid cardiomyopathy from senile cardiac amyloidosis.
    Jacobson, DR
    Kane, I
    Gertz, MA
    Gallo, G
    Pan, T
    Tufau, P
    Buxbaum, JN
    AMYLOID AND AMYLOIDOSIS 1998, 1999, : 344 - 346
  • [3] The "Wagshurst study": p. Val40Ile transthyretin gene variant causes late-onset cardiomyopathy
    Bauer, Ralf
    Dikow, Nicola
    Brauer, Andreas
    Kreuter, Michael
    Buss, Sebastian
    Evers, Christina
    Roecken, Christoph
    Schnabel, Philipp A.
    Hinderhofer, Katrin
    Ehlermann, Philipp
    Katus, Hugo A.
    Kristen, Arnt V.
    AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 2014, 21 (04): : 267 - 275
  • [4] Transthyretin Tyr69-to-Ile mutation (double-nucleotide substitution in codon 69) in a Japanese familial amyloidosis patient with cardiomyopathy and carpal tunnel syndrome
    Takei, Y
    Hattori, T
    Yazaki, M
    Tokuda, T
    Urasawa, N
    Kanai, S
    Ikeda, S
    AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS, 2003, 10 (01): : 25 - 28
  • [5] X-linked LAMP2B p.Val397Ile variant leads to late-onset Danon disease in females with hypertrophic cardiomyopathy
    Tran, Alex
    Yuan, Victoria
    Omi, Kazuhiro
    Fan, Judy
    Chang, Sunny
    Wang, Jessica
    CIRCULATION, 2024, 150
1