Results 31 to 40 of about 16,120 (219)

Utility of Genetic Testing in Patients with Transthyretin Amyloid Cardiomyopathy: A Brief Review

Biomedicines, 2023
Transthyretin amyloid cardiomyopathy (ATTR-CM) is an increasingly diagnosed condition. Although wild-type transthyretin amyloidosis (ATTRwt) is the most common ATTR-CM, hereditary transthyretin amyloidosis (ATTRv) may also occur.
Ana-Maria Merino-Merino, Jorge Labrador-Gomez, Ester Sanchez-Corral, Pedro-David Delgado-Lopez, Jose-Angel Perez-Rivera   +4 more
doaj   +1 more source

Rapid decline in ejection fraction and persistent elevation of troponin associated with cardiac amyloidosis

SAGE Open Medical Case Reports, 2020
Cardiac amyloidosis is an increasingly recognized cause of heart failure. It remains underdiagnosed despite a significant morbidity and mortality rate. The mean survival in patients with cardiac amyloidosis is less than 1 year in untreated primary light ...
Temidayo Abe, Eric Y Chang, Gabrielle De Allie, Taiwo Ajose, Chukwuemeka Nwokike, Nicolas Bakinde   +5 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

A Descriptive Analysis of ATTR Amyloidosis in Spain from the Transthyretin Amyloidosis Outcomes Survey. [PDF]

, 2021
Introduction Transthyretin amyloidosis (ATTR amyloidosis) is a clinically heterogeneous disease caused by mutations in the transthyretin (TTR) gene or aggregation of wild-type transthyretin (ATTRwt).
Gonzalez-Costello, Jose, Muñoz Beamud, Francisco, González Moreno, Juan, Cisneros Barroso, Eugenia, Campistol, Josep María, González-Moreno, Juan, Amass, Leslie, Chapman, Doug, Fernandez-Torron, Roberto, Cisneros-Barroso, Eugenia, Munoz-Beamud, Francisco, Fernández Torrón, Roberto, González Costello, José, Losada-López, Inés, Losada López, Inés, García Pavía, Pablo, Garcia-Pavia, Pablo   +16 more
core   +3 more sources

Subthreshold Aortic Valve Calcium Scores in Severe Aortic Stenosis and Transthyretin Cardiac Amyloidosis

JACC: Case Reports, 2020
We have clinically observed that some patients with transthyretin cardiac amyloidosis and severe aortic stenosis may have lesser degrees of calcification than one might expect.
Muzna Hussain, MD, Mazen Hanna, MD, Leonardo Rodriguez, MD, Brian Griffin, MD, Chris Watson, MD PhD, Dermot Phelan, MD, Paul Schoenhagen, MD, Wael Jaber, MD, Paul Cremer, MD, Patrick Collier, MD, PhD   +9 more
doaj   +1 more source

Transbronchial cryobiopsy proven amyloid diffuse cystic lung disease complicating a transthyretin mutated (ATTRm) amyloidosis: a case report

Therapeutic Advances in Respiratory Disease, 2023
We present a case report of transbronchial cryobiopsy proven diffuse amyloid cystic lung disease complicating a homozygous Val122Ile (V122I) transthyretin mutated amyloidosis (ATTRm). To the best of our knowledge, this is the first case in the literature
Sébastien Gaultier, Tania Puscas, Jean Pastre, Laure Gibault, Jean-Benoît Arlet, Cécile Cauquil, Adrien Michon   +6 more
doaj   +1 more source

Senile Systemic Amyloidosis: Clinical Features at Presentation and Outcome

, 2013
Background Cardiac amyloidosis is a fatal disease whose prognosis and treatment rely on identification of the amyloid type. In our aging population transthyretin amyloidosis (ATTRwt) is common and must be differentiated from other amyloid types.
Banypersad, SM, Whelan, CJ, Lachmann, HJ, Gillmore, JD, Gibbs, SD, Hawkins, PN, McCarthy, CA, Sattianayagam, P, Rowczenio, D, Wechalekar, A, Venner, CP, Petrie, A, Dungu, J, Wassef, N, Pinney, JH, Gilbertson, JA   +15 more
core   +1 more source

Ophthalmological manifestations of hereditary transthyretin amyloidosis

, 2022
Transthyretin familial amyloidosis is the most common form of inherited systemic amyloidosis worldwide. The condition develops secondary to more than 100 different point mutations in the transthyretin gene (18q12.1).
Francisco de Assis Aquino Gondim (5020853), Joana Gurgel Holanda Filha (12684623), Manoel Odorico Moraes Filho (12684626)   +2 more
core   +2 more sources

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

The clinical use of the MOGE(S) classification in the differential diagnosis between idiopathic hypertrophic cardiomyopathy and its phenocopies

Российский кардиологический журнал, 2019
Aim. To determine  the relation between  idiopathic hypertrophic  cardiomyopathy (HCM) and HCM phenocopies, as well as to study the etiological pattern  of HCM phenocopies in patients  of the  North-Western  region  of Russia  in different age groups ...
A. Poliakova, A. Krutikov, E. Semernin, A. Kostareva, A. Gudkova   +4 more
doaj   +1 more source