Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.jacc.2006.01.042 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Case Report: Avoiding misdiagnosis in amyloidosis-navigating transthyretin genopositivity and monoclonal gammopathy in a patient with advanced heart failure and spinal stenosis.
Front Cardiovasc Med
December 2024
Division of Hematology-Oncology, Department of Medicine, Tufts Medical Center, Boston, MA, United States.
Background: A 63-year-old Black woman presented with progressive exertional dyspnea and chronic lower back pain. The course and findings in her case are instructive.
Case Report: Family history was notable for cardiac deaths.
Clinical and molecular insights into A97S variants in hereditary transthyretin amyloid polyneuropathy in South China.
Amyloid
December 2024
Department of Neurology, The Third Xiangya Hospital, Central South University, Changsha, China.
Objective: This study aims to delineate the clinical profiles of the hereditary transthyretin amyloid polyneuropathy (ATTRv-PN) patients with A97S variant from southern China and the molecular characteristics of this mutant protein.
Methods: Fifteen ATTRv-PN patients with heterozygous A97S and one patient with homozygous A97S were included in the study. Serum TTR tetramer concentration was quantified through ultra-performance liquid chromatography.
Coexistence of variant-type transthyretin and immunoglobulin light-chain amyloidosis: a case report.
Eur Heart J Case Rep
June 2024
Department of Cardiovascular Medicine, Kitasato University School of Medicine, 1-15-1 Kitasato, Minami-Ku, Sagamihara, Kanagawa 252-0374, Japan.
Background: Determining the type of amyloid deposits is clinically important for choosing the specific therapies for cardiac amyloidosis.
Case Summary: A 78-year-old woman who had been experiencing fluid retention and dyspnoea on exertion for 6 months was referred to our hospital for the management of heart failure with left ventricular hypertrophy. Since Tc-hydroxymethylene diphosphonate scintigraphy showed mild cardiac uptake and significant elevation of serum free lambda chain (with a difference of 263 mg/L in free light chain), we suspected immunoglobulin light-chain amyloidosis (AL), and endomyocardial biopsy was performed.
Treatment characteristics of patients with hereditary transthyretin amyloidosis: a cohort study.
Orphanet J Rare Dis
May 2024
Department of Neurology, Hospital of the University of Pennsylvania, University of Pennsylvania, 3400 Spruce St, 3 Gates, Philadelphia, PA, 19104, USA.
Article Synopsis
- - The study examined 162 patients with hereditary transthyretin amyloidosis (ATTRv) to evaluate the characteristics of TTR-targeted therapy and compare outcomes between combination therapy (gene silencers and TTR stabilizers) and monotherapy.
- - Patients had an average diagnosis age of 65, with 53% having the V122I variant, and while combination therapy was used by 37% of patients, there were no significant safety issues reported.
- - Although the combination therapy group showed a tendency for reduced hospitalizations and lower mortality risk compared to monotherapy, the results were not statistically conclusive, indicating a need for more extensive studies for reliable conclusions.
Disentangling Knots of Misfolded Proteins: Do We Really Know the Prognostic Implications of the Pathogenic V122I TTR Variant?
Am J Cardiol
June 2024
Department of Internal Medicine, Division of Cardiology, University of Texas Southwestern Medical Center, Dallas, Texas. Electronic address:
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!