Clinical Diagnosis and Subtyping of Cardiac Amyloidosis by Mass Spectrometry

Medical treatment for cardiac amyloidosis (CA) is evolving rapidly. Heart transplantation can be a valid option when followed by transplantation of bone marrow or liver, dependent on the type and origin of the amyloid protein. Thus, accurate typing of amyloidosis has implications for treatment, prognosis, and genetic counseling. Although non-invasive diagnostic techniques can type CA, endomyocardial biopsy (EMB) may be needed in the case of equivocal imaging findings or discordant data. We aimed to define the role of mass spectrometry (MS) for diagnosis and subtyping of CA.
Source: The Journal of Heart and Lung Transplantation - Category: Transplant Surgery Authors: Tags: (566) Source Type: research

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Source: Amyloid: The Journal of Protein Folding Disorders - Category: Biochemistry Authors: Source Type: research
Genetic, clinical, biochemical and histochemical data indicate a crucial involvement of inflammation in Alzheimer's disease (AD), but harnessing the immune system to cure or prevent AD has so far proven difficult. Clarifying the cellular heterogeneity and signaling pathways associated with the presence of the AD hallmarks beta-amyloid and tau in the brain, would help to identify potential targets for therapy. While much attention has been so far devoted to microglia and their homeostatic phagocytic activity, additional cell types and immune functions might be affected in AD. Beyond microglia localized in the brain parenchy...
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
Once considered a rare disease, wild type transthyretin amyloidosis (wtATTR) is currently being recognized as a prevalent disease in the elderly population, as it is estimated to be present in a significant subset of patients with heart failure with preserved ejection fraction (HFpEF) or with degenerative aortic stenosis [1,2]. The increasing population ageing, together with the availability of novel, non-invasive diagnostic tools (namely bone tracer scintigraphy), as well as the growing awareness in the medical community has led to a dramatic increase in the number of diagnosis of wtATTR in the developed countries [3].
Source: International Journal of Cardiology - Category: Cardiology Authors: Tags: Editorial Source Type: research
AbstractHereditary transthyretin amyloidosis is caused by pathogenic variants (ATTRv) in theTTR gene. Alongside cardiac dysfunction, the disease typically manifests with a severely progressive sensorimotor and autonomic polyneuropathy. Three different drugs, tafamidis, patisiran, and inotersen, are approved in several countries, including the European Union and the United States of America. By stabilizing the TTR protein or degrading its mRNA, all types of treatment aim at preventing amyloid deposition and stopping the otherwise fatal course. Therefore, it is of utmost importance to recognize both onset and progression of ...
Source: Journal of Neurology - Category: Neurology Source Type: research
af GM Abstract Alzheimer's disease (AD) is a progressive brain amyloidosis that damages brain regions associated with memory, thinking, behavioral and social skills. Neuropathologically AD is characterized by intraneuronal hyperphosphorylated tau inclusions as neurofibrillary tangles (NFTs), and buildup of extracellular amyloid beta (Aβ) peptide as senile plaques. Several biomarker tests capturing these pathologies have been developed. However, for the full clinical expression of the neurodegenerative events of AD, there are presence of other central molecular pathways. In terms of understanding the unidentif...
Source: Current Topics in Medicinal Chemistry - Category: Chemistry Authors: Tags: Curr Top Med Chem Source Type: research
Publication date: Available online 1 June 2020Source: Respiratory Medicine Case ReportsAuthor(s): Trescos Florent, Cazes Nicolas, Briquet Anaïs, Delcasso Benjamine, Graille Isabelle, Appay Romain, Bonnet Pierre-Mathieu, Huyn Than Khoa, Roseau Jean-Baptiste
Source: Respiratory Medicine Case Reports - Category: Respiratory Medicine Source Type: research
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Source: Amyloid: The Journal of Protein Folding Disorders - Category: Biochemistry Authors: Source Type: research
One out of seven patients with severe aortic stenosis (AS) undergoing transcatheter aortic valve replacement (TAVR) may be affected by transthyretin cardiac amyloidosis (ATTR-CA), mostly presenting with low-fl...
Source: BMC Cardiovascular Disorders - Category: Cardiology Authors: Tags: Case report Source Type: research
Abstract Transthyretin amyloid cardiomyopathy (ATTR-CM) results in a restrictive cardiomyopathy caused by extracellular deposition of transthyretin, normally involved in the transportation of the hormone thyroxine and retinol-binding protein, in the myocardium. Enthusiasm about ATTR-CM has grown as a result of 3 simultaneous areas of advancement: Imaging techniques allow accurate noninvasive diagnosis of ATTR-CM without the need for confirmatory endomyocardial biopsies; observational studies indicate that the diagnosis of ATTR-CM may be underrecognized in a significant proportion of patients with heart failure; an...
Source: Circulation - Category: Cardiology Authors: Tags: Circulation Source Type: research
Contributors : Gian L Vita ; M'Hammed Aguennouz ; Francesca Polito ; Rosaria Oteri ; Massimo Russo ; Luca Gentile ; Cristina Barbagallo ; Marco Ragusa ; Carmelo Rodolico ; Rosa M Di Giorgio ; Antonio Toscano ; Giuseppe Vita ; Anna MazzeoSeries Type : Non-coding RNA profiling by arrayOrganism : Homo sapiensTransthyretin variant amyloidosis (ATTRv) is a rare autosomal dominant disease characterized by the accumulation of amyloid in many organs, mostly causing a sensory-motor neuropathy, cardiomyopathy, and dysautonomia. The aim of the study was to report microRNAs (miRNAs) expression profile identified in the blood of ATTRv ...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Non-coding RNA profiling by array Homo sapiens Source Type: research
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