Results 31 to 40 of about 44,633 (211)

Early-Onset Leptomeningeal Manifestation of G47R Hereditary Transthyretin Amyloidosis [PDF]

, 2021
Hereditary transthyretin amyloidosis in both endemic and nonendemic areas can have heterogeneous clinical presentations within the same family and may be difficult to ...
Rowczenio, Dorota, Bashford, James, Reilly, Mary M., Reilly, Mary M, Cechin, Laura, Gillmore, Julian D, Coutinho, Ester, Gasmelseed, Jihad, Gillmore, Julian D., Dorota Rowczenio, Mary M. Reilly, Laura Cechin, Julian D. Gillmore, James Bashford, Ester Coutinho, Jihad Gasmelseed   +15 more
core   +2 more sources

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

Case Report and Literature Review of Cardiac Amyloidosis: A Not-So-Rare Cause of Heart Failure [PDF]

, 2023
Restrictive cardiomyopathy secondary to cardiac amyloidosis is an underdiagnosed cause of heart failure and it is associated with significant morbidity and mortality.
Alexandre, André, Baptista, Patrícia, Moura de Azevedo, Sofia, Dias-Frias, André, André Dias-Frias, Patrícia Baptista, André Alexandre, Sofia Moura de Azevedo   +7 more
core   +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

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

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

A strange case of transthyretin cardiac amyloidosis in the ederly: a diagnostic challenge

, 2023
Transthyretin (TTR)-related cardiac amyloidosis is a progressive infiltrative cardiomyopathy that mimics hypertensive, hypertrophic heart disease and may go undiagnosed.
Anna Mengoni, Erica Rocco, Giuseppina Sasso, Giuseppe Ambrosio, P. Biagioli, G. Sasso, B. Simeone, Cinzia Zuchi, C. Zuchi, A. Mengoni, F. Scavelli, G. Ambrosio, Beatrice Simeone, Paolo Biagioli, Erberto Carluccio, Francesca Scavelli, E. Rocco, Rosanna Lauciello, R. Lauciello, E. Carluccio   +19 more
core   +1 more source

Decoding RNA regulation: Challenges and opportunities for RNA‐based therapies in Europe

British Journal of Clinical Pharmacology, EarlyView.
Abstract RNA‐based medicinal products represent a promising frontier in personalised medicine, offering sequence‐specific disease targeting at various molecular levels, yet their clinical translation in the European Union (EU) may be hindered by regulatory uncertainty around definitions and evidence requirements; this study therefore aims to identify ...
Olivia C. Lewis, Christine Leopold, Joyce M. Hoek, Raymond M. Schiffelers, Marie L. De Bruin   +4 more
wiley   +1 more source

Misdiagnosis of hereditary amyloidosis as AL (Primary) amyloidosis [PDF]

, 2002
Background: Hereditary, autosomal dominant amyloidosis, caused by mutations in the genes encoding transthyretin, fibrinogen A -chain, lysozyme, or apolipoprotein A-I, is thought to be extremely rare and is not routinely included in the differential ...
Booth, D.R., Gilbertson, J.A., Hawkins, P.N., Booth, S.E., Lachmann, H.J., Gillmore, J.D., Bybee, A., Pepys, M.B.   +7 more
core