Transthyretin amyloidosis (ATTR) is a threatening and severe genetic disease characterized by damages to organs and systems caused by a pathological protein transthyretin produced in the liver. Clinical manifestations of this disease vary from injuries of the nervous system to injuries of the cardiovascular system. Prognosis for ATTR-amyloidosis remains unfavorable. The absence of pathognomonic symptoms complicates diagnostics of this disease, which tends to simulate other conditions. At present, medicines exist, which are pathogenetic in the treatment of ATTR-amyloidosis. The article describes a clinical case of ATTR-amyloidosis with primary heart injury complicated with functional class III chronic heart failure during the tafamidis treatment.
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| http://dx.doi.org/10.18087/cardio.2020.3.n824 | DOI Listing |
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Real-world tafamidis experience in hereditary transthyretin amyloidosis with peripheral neuropathy in Brazil.
Arq Neuropsiquiatr
January 2025
Universidade Federal do Rio de Janeiro, Hospital Universitário Clementino Fraga Filho, Centro de Estudos em Paramiloidose Antônio Rodrigues de Mello, Rio de Janeiro RJ, Brazil.
Background: Tafamidis is a kinetic stabilizer that binds to the transthyretin (TTR) gene, inhibiting its dissociation. It is the only disease-modifying treatment for hereditary TTR amyloidosis with peripheral neuropathy (ATTRv-PN) available in the National Therapeutic Form (Formulário Terapêutico Nacional, FTN, in Portuguese) of the Brazilian Unified Health System (Sistema Único de Saúde, SUS, in Portuguese).
Objective: To assess if the efficacy and safety of tafamidis in the Brazilian real-world experience are comparable to the results of clinical trials.
Early genetic screening and cardiac intervention in patients with cardiomyopathies in a multidisciplinary clinic.
ESC Heart Fail
December 2024
Division of Cardiology, Department of Medicine, Mazankowski Alberta Heart Institute, Faculty of Medicine and Dentistry, University of Alberta, Edmonton, AB, Canada.
Article Synopsis
- The study aims to investigate how early assessment and genetic counseling in a multidisciplinary Cardiomyopathy Clinic can enhance patient outcomes and reduce the severity of heart failure.
- A total of 421 patients with various types of cardiomyopathy participated, with a significant portion undergoing genetic testing that revealed a notable incidence of pathogenic variants.
- Follow-up showed increased use of heart failure medications and improved heart function, indicated by a rise in left ventricular ejection fraction (LVEF) and a decrease in left ventricular mass index (LVMI) among patients with dilated cardiomyopathy (DCM).
Clinical outcomes for 2788 patients with transthyretin amyloidosis: Tafamidis meglumine early access program in France.
Arch Cardiovasc Dis
October 2024
Cardiology Department and French National Reference Centre for Cardiac Amyloidosis, Henri-Mondor University Hospital, AP-HP, GRC Amyloid Research Institute and IMRB, Inserm, Université Paris Est Créteil, 94010 Créteil, France. Electronic address:
Background: Early access experience in France with tafamidis meglumine, a selective transthyretin stabilizer for transthyretin-related amyloidosis cardiomyopathy (ATTR-CM), following transthyretin-related amyloidosis (ATTR) polyneuropathy approval and positive ATTR-ACT study results.
Aim: To describe the characteristics and clinical outcomes for patients in the French ATTR-CM tafamidis meglumine early access programme (28 Nov 2018 to 01 Jun 2021).
Methods: Patients with confirmed ATTR-CM received tafamidis meglumine 20mg/day or 80mg/day.
Baseline Predictors of Adverse Outcomes for Transthyretin Amyloidosis Cardiomyopathy Patients Treated and Untreated with Tafamidis: A Canadian Referral Center Experience.
J Clin Med
September 2024
Division of Cardiology, Department of Cardiac Sciences, Libin Cardiovascular Institute, University of Calgary, Calgary, AB T2N 1N4, Canada.
Article Synopsis
- Tafamidis is an expensive treatment for transthyretin amyloidosis cardiomyopathy (ATTR-CM) that shows positive outcomes, but predicting long-term effectiveness remains challenging.
- A study analyzed 139 ATTR-CM patients to identify baseline factors, such as age and renal function, linked to mortality and hospitalization, regardless of whether they received tafamidis.
- Key findings suggest that factors like renal function and frailty are critical indicators of adverse outcomes in ATTR-CM patients, which can help in better assessing treatment eligibility.
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