Results 41 to 50 of about 231,717 (193)

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  

Real‐world characteristics and treatment of cardiac transthyretin amyloidosis: A multicentre, observational study

ESC Heart Failure, Volume 12, Issue 2, Page 1203-1216, April 2025.
The 366 patients diagnosed with transthyretin amyloidosis cardiomyopathy (ATTR‐CM) were analyzed regarding their clinical characteristics in the first year after approval of tafamidis 61 mg for ATTR‐CM in Germany. Nearly two‐thirds of the patients were in an advanced disease stage and 64% met the key criteria of the “Transthyretin Amyloidosis ...
Richard J. Nies, Svenja Ney, Ingrid Kindermann, Yvonne Bewarder, Angela Zimmer, Fabian Knebel, Katrin Hahn, Sebastian Spethmann, Peter Luedike, Lars Michel, Tienush Rassaf, Maria Papathanasiou, Stefan Störk, Vladimir Cejka, Amin Polzin, Fabian Voss, Malte Kelm, Bernhard Unsöld, Christine Meindl, Michael Paulus, Ali Yilmaz, Bishwas Chamling, Caroline Morbach, Roman Pfister   +23 more
wiley   +1 more source

Step‐by‐step typing for the accurate diagnosis of concurrent light chain and transthyretin cardiac amyloidosis

ESC Heart Failure, 2022
While 99mTc‐pyrophosphate scintigraphy is clearly useful in diagnosing transthyretin amyloid cardiomyopathy (ATTR‐CM), it is necessary to know the pitfalls of this test for proper use. We present a rare case of concurrent ATTR‐CM and amyloid light chain (
Hidenori Moriyama, Hiroki Kitakata, Jin Endo, Hidehiko Ikura, Motoaki Sano, Masayoshi Tasaki, Shunta Sakai, Mitsuharu Ueda, Keiichi Fukuda   +8 more
doaj   +1 more source

A phenomap of TTR amyloidosis to aid diagnostic screening

ESC Heart Failure, Volume 12, Issue 2, Page 1113-1118, April 2025.
Abstract Cardiac amyloidosis due to transthyretin (ATTR) remains an underdiagnosed cause of cardiomyopathy. As awareness of the disease grows and referrals for ATTR increase, clinicians are likely to encounter more atypical forms of the condition in clinical practice.
Alexios S. Antonopoulos, Theodoros Tsampras, George Lazaros, Konstantinos Tsioufis, Charalambos Vlachopoulos   +4 more
wiley   +1 more source

Standardising Care and Treatment of Transthyretin Amyloid Cardiomyopathy

Global Heart, 2023
Transthyretin cardiac amyloidosis (ATTR-CA) has been traditionally considered a rare and inexorably fatal condition. ATTR-CA now is an increasingly recognised cause of heart failure and mortality worldwide with effective pharmacological treatments.
Marianna Fontana, Aldostefano Porcari, Philip N. Hawkins   +2 more
openaire   +7 more sources

Exercise limitations in amyloid cardiomyopathy assessed by cardiopulmonary exercise testing—A multicentre study

ESC Heart Failure, Volume 12, Issue 2, Page 1326-1335, April 2025.
Abstract Aims Amyloid cardiomyopathy is caused by the deposition of light chain (AL) or transthyretin amyloid (ATTR) fibrils, that leads to a restrictive cardiomyopathy, often resulting in heart failure (HF) with preserved or reduced ejection fraction.
Robin Willixhofer, Mauro Contini, Michele Emdin, Damiano Magrì, Alice Bonomi, Elisabetta Salvioni, Fabrizio Celeste, Alberico Del Torto, Claudio Passino, Christophe D.J. Capelle, Chiara Arzilli, Emiliano Fiori, Nicolò Capra, Christina Kronberger, Nikita Ermolaev, Andreas Kammerlander, Beatrice Musumeci, Giuseppe Vergaro, Vincenzo Castiglione, René Rettl, Giacomo Tini, Andrea Baggiano, Iacopo Fabiani, Susanna Sciomer, Roza Badr Eslam, Piergiuseppe Agostoni   +25 more
wiley   +1 more source

Transthyretin Stabilization by AG10 in Symptomatic Transthyretin Amyloid Cardiomyopathy

Journal of the American College of Cardiology, 2019
Transthyretin (TTR) amyloidosis is an underdiagnosed disease caused by destabilization of TTR due to pathogenic mutations or aging. Both pathogenic and protective mutations illuminate mechanisms of disease and potential interventions. AG10 is a selective, oral TTR stabilizer under development for transthyretin amyloidosis cardiomyopathy (ATTR-CM) that ...
Daniel P, Judge, Stephen B, Heitner, Rodney H, Falk, Mathew S, Maurer, Sanjiv J, Shah, Ronald M, Witteles, Martha, Grogan, Van N, Selby, Daniel, Jacoby, Mazen, Hanna, Jose, Nativi-Nicolau, Jignesh, Patel, Satish, Rao, Uma, Sinha, Cameron W, Turtle, Jonathan C, Fox   +15 more
openaire   +2 more sources

Old disease, new twist

Journal of Hospital Medicine, EarlyView.
Abstract An 81‐year‐old man with a history of high‐grade urothelial carcinoma of the bladder and ureter on treatment with atezolizumab and tiragolumab presented to the emergency department with 5 months of malaise, generalized weakness, and fatigue and 2 weeks of subjective fevers. One month prior to presentation, he received an empiric 9‐day course of
Hadi Roudsari, Gurpreet Dhaliwal, Anand D. Jagannath, Alan H. Baik, Sam Brondfield   +4 more
wiley   +1 more source

Amyloidogenicity assessment of transthyretin gene variants

Annals of Clinical and Translational Neurology, 2022
Objective Hereditary transthyretin‐mediated amyloidosis is a treatable condition caused by amyloidogenic variants in the transthyretin‐gene resulting in severe peripheral neuropathy or cardiomyopathy.
Nicolai B. Grether, Felix Napravnik, Thomas Imhof, Reinhold P. Linke, Jan H. Bräsen, Jessica Schmitz, Maike Dohrn, Christian Schneider, Martin K. R. Svačina, Jörg Stetefeld, Manuel Koch, Helmar C. Lehmann   +11 more
doaj   +1 more source

Diagnosis of Wild-Type Transthyretin Cardiomyopathy and Initiation of Pathogenetic Therapy in an Elderly Patient: A Clinical Observation

Российский журнал гериатрической медицины
The article presents a case study of an 80-year-old patient with wild-type transthyretin amyloid cardiomyopathy (ATTRwt-CM). This case demonstrates the importance of comprehensive examination in cases of unexplained heart failure in elderly patients, and
E. E. Esenbekova, Z. A. Asatova, K. A. Eruslanova, A. Yu. Shchedrina, A. T. Shubina, E. A. Koroleva, T. A. Bondarenko, S. R. Gilyarevsky   +7 more
doaj   +1 more source