Results 1 to 10 of about 141,957 (168)

Hereditary transthyretin-related amyloidosis is frequent in polyneuropathy and cardiomyopathy of no obvious aetiology

Annals of Medicine, 2021
Background Hereditary Transthyretin-Related Amyloidosis, a clinically heterogeneous autosomal dominant disease caused by pathogenic variants in the TTR gene, is characterized by the deposition of insoluble misfolded protein fibrils.
Christian Beetz, Thomas Skripuletz, Ulrike Grittner   +2 more
exaly   +5 more sources

Hereditary cardiac amyloidosis associated with Pro24Ser transthyretin mutation: a case report

Journal of Medical Case Reports, 2018
Background Transthyretin amyloidosis is a systemic disorder caused by extracellular deposition of insoluble amyloid fibrils in peripheral and autonomic nerves, heart, kidney, gastrointestinal tract, and other organs.
Hiroyuki Yamamoto, Toru Hashimoto, Shunji Kawamura, Michiaki Hiroe, Taro Yamashita, Yukio Ando, Tomoki Yokochi   +6 more
doaj   +2 more sources

Pittsburgh compound B positron emission tomography detects cardiomyopathy in hereditary transthyretin amyloidosis patients with negative bone scintigraphy: a pilot study [PDF]

Frontiers in Nuclear Medicine
PurposeTo evaluate the effectiveness of positron emission tomography (PET) with [11C]-Pittsburgh Compound-B ([11C]PiB) for detecting transthyretin amyloid (ATTR) cardiomyopathy in patients with transthyretin gene (TTR) variants associated with reduced ...
Hendrea S. A. Tingen, Gilles N. Stormezand, Paul van Snick, Yingqi Hu, Paul Van Der Zwaag, Marish Oerlemans, Marish Oerlemans, Peter van der Meer, Bouke P. C. Hazenberg, Gert Luurtsema, Hans L. A. Nienhuis, Riemer H. J. A. Slart, Riemer H. J. A. Slart   +12 more
doaj   +2 more sources

Central Nervous System Manifestations Associated with Hereditary Transthyretin Amyloidosis: a Narrative Review [PDF]

Arquivos de Neuro-Psiquiatria
Hereditary transthyretin amyloidosis (ATTRv) is a rare, autosomal dominant, inherited disease caused by variants in the gene encoding the transthyretin (TTR) protein.
Pedro Ivo Machado Campos de Araujo Costa, Marcelo Maroco Cruzeiro, Arise Garcia de Siqueira Galil, Thiago Cardoso Vale   +3 more
doaj   +2 more sources

A case of fatal familial edema

IHJ Cardiovascular Case Reports, 2023
Cardiac amyloidosis is an often-underdiagnosed cause of heart failure, and associated morbidity and mortality. AL (Primary amyloidosis) and ATTR (Amyloidosis, hereditary, transthyretin-related) variants most commonly affect the heart amongst the ...
Sriram Easwaran, Milind Phadke, Nitin Burkule, Ashwin Dalal, Pratap Nathani   +4 more
doaj   +1 more source

A rare variant in the TTR gene (p.E112K) is associated with systemic amyloidosis and a new symptom – skin hyperemia in response to ethanol intake: family segregation analysis, literature review, and a clinical case. Case report

Терапевтический архив, 2023
Transthyretin amyloidosis (ATTR-amyloidosis) is a systemic disorder associated with extracellular deposition in the tissues and organs of amyloid fibrils, transthyretin-containing insoluble protein-polysaccharide complexes.
Olga S. Chumakova, Svetlana N. Nasonova, Yulia V. Frolova, Elena A. Stepanova, Elena A. Mershina, Valentin E. Sinitsyn, Dmitry A. Zateyshchikov, Igor V. Zhirov   +7 more
doaj   +1 more source

Clinical features of retinal amyloid angiopathy with transthyretin Gly83Arg variant [PDF]

International Journal of Ophthalmology, 2023
AIM: To report on the clinical features of patients with retinal amyloid angiopathy (RAA) who were identified to be caused by the transthyretin (TTR) Gly83Arg variant.
Gang Su, Xing-Wang Chen, Jun-Lin Pan, Hong Li, Bing Xie, Shan-Jun Cai   +5 more
doaj   +1 more source

Periorbital Purpura as a Presenting Sign of Hereditary Transthyretin Amyloidosis

Annals of Internal Medicine: Clinical Cases, 2023
Cardiac amyloidosis is part of a systemic process caused by extracellular deposition of misfolded protein in various tissues. Once thought to be pathognomonic for AL amyloidosis, here we describe a case of periorbital purpura as a presenting sign in a ...
David S. Katzianer, Karen James, Mazen Hanna   +2 more
doaj   +1 more source

Early Progression of Aortic Stenosis Associated With Iatrogenic Variant Transthyretin Amyloidosis After Domino Liver Transplantation

JACC: Case Reports, 2020
We report a 65-year-old man who underwent aortic valve replacement because of severe aortic stenosis associated with de novo iatrogenic variant transthyretin amyloidosis derived from a liver graft extracted from a patient with hereditary transthyretin ...
Yasuhito Hosoda, MD, Mitsuharu Ueda, MD, PhD, Jun Takaki, MD, Ken Okamoto, MD, PhD, Taro Yamashita, MD, PhD, Toshihiro Fukui, MD, PhD   +5 more
doaj   +1 more source

Strong positive light chain immunostaining in a patient with transthyretin amyloidosis

Hematology, 2023
The two most common systemic amyloidosis types are immunoglobulin light chain (AL) and amyloid transthyretin (ATTR) amyloidosis, in which the precursor proteins responsible for amyloidosis are light chain and transthyretin, respectively.
Jiao Chen, Haifei Chen, Lingyun Zhou, Danbo Liu, Fang Du, Hongxian Xiang   +5 more
doaj   +1 more source