Cardiac Amyloidosis: Overlooked, Underappreciated, and Treatable.

Cardiac Amyloidosis: Overlooked, Underappreciated, and Treatable. Annu Rev Med. 2020 Jan 27;71:203-219 Authors: Rubin J, Maurer MS Abstract Cardiac amyloidosis (CA) is an infiltrative and restrictive cardiomyopathy that leads to heart failure, reduced quality of life, and death. The disease has two main subtypes, transthyretin cardiac amyloidosis (ATTR-CA) and immunoglobulin light chain cardiac amyloidosis (AL-CA), characterized by the nature of the infiltrating protein. ATTR-CA is further subdivided into wild-type (ATTRwt-CA) and variant (ATTRv-CA) based on the presence or absence of a mutation in the transthyretin gene. CA is significantly underdiagnosed and increasingly recognized as a cause of heart failure with preserved ejection fraction. Advances in diagnosis that employ nuclear scintigraphy to diagnose ATTR-CA without a biopsy and the emergence of effective treatments, including transthyretin stabilizers and silencers, have changed the landscape of this field and render early and accurate diagnosis critical. This review summarizes the epidemiology, pathophysiology, diagnosis, prognosis, and management of CA with an emphasis on the significance of recent developments and suggested future directions. PMID: 31986086 [PubMed - in process]
Source: Annual Review of Medicine - Category: General Medicine Authors: Tags: Annu Rev Med Source Type: research

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Restrictive cardiomyopathy in cardiac amyloidosis (CA) mainly occurs due to light chain (AL) or transthyretin (ATTR) protein deposition in the myocardium. Recurrent congestion related to HF can be challenging to manage in CA, often requiring high dose diuretics and frequent hospitalizations. Though therapies are available for CA that may prolong survival, these do not reverse the cardiomyopathy that may be present at time of diagnosis. Innovative outpatient strategies are needed to effectively manage HF in patients with CA.
Source: Journal of Cardiac Failure - Category: Cardiology Authors: Tags: 143 Source Type: research
Authors: Eicher JC, Audia S, Damy T Abstract Transthyretin (TTR) cardiac amyloidosis results from the dissociation of the tetrameric, liver-synthetized transport protein, either because of a mutation (hereditary CA), or spontaneously due to ageing (wild type CA). Monomers self-associate into amyloid fibrils within the myocardium, causing heart failure, arrhythmias and conduction defects. This overlooked disease must be recognized in case of unexplained increased thickness of the myocardium, particularly in subjects of African descent, in patients with heart failure and preserved ejection fraction, and in those with...
Source: Revue de Medecine Interne - Category: Internal Medicine Tags: Rev Med Interne Source Type: research
CONCLUSION: Molecular imaging represent a sensitive tool for early assessment of both amyloid burden and cardiac innervation, to differentiate between subtypes and to monitor disease burden, disease progression, and potential response to therapy. PMID: 32525789 [PubMed - as supplied by publisher]
Source: Current Radiopharmaceuticals - Category: Radiology Tags: Curr Radiopharm 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
1366Objectives: CURRENT ROLE OF PET IMAGING IN CARDIAC AMYLOIDOSIS Cardiac amyloidosis (CA) is a relatively rare disease characterized by extracellular deposition of abnormal protein fibrils in the heart, resulting in restrictive cardiomyopathy and heart failure with preserved ejection fraction. Majority of CA occurs due to deposition of two types of amyloid protein: monoclonal immunoglobulin light chains (AL amyloidosis) or transthyretin (ATTR), either wild or mutant type. Differentiating the two most common types of amyloid deposition in the heart is of paramount importance in guiding therapy and prognostication. Diagnos...
Source: Journal of Nuclear Medicine - Category: Nuclear Medicine Authors: Tags: Cardiovascular Sciences (Poster Session) Source Type: research
AbstractPurpose of ReviewTransthyretin amyloidosis is an increasingly recognized cause of restrictive cardiomyopathy related to amyloid fibril deposition in cardiac tissues. As treatment therapies have emerged for transthyretin amyloidosis (ATTR), so has interest in using biomarkers to identify disease prior to advanced presentation.Recent FindingsLower levels of transthyretin and retinol binding protein-4 have been demonstrated in patients with pathogenic mutations of transthyretin either with or without clinical disease. Levels associate with the severity of mutations as well as response to treatment with transthyretin s...
Source: Current Heart Failure Reports - Category: Cardiology Source Type: research
Amyloid transthyretin (ATTR) cardiac amyloidosis (CA) is an increasingly recognized cause of restrictive cardiomyopathy and associated heart failure with preserved ejection fraction (HFpEF). Despite improved diagnostic techniques to identify this condition, many patients experience delayed diagnosis. Interpretation of routine cardiac biomarkers (i.e. troponins and brain natriuretic peptide (BNP)) and echocardiography in ATTR-CA is limited, particularly in relation to pyrophosphate (PYP) scintigraphy.
Source: The Journal of Heart and Lung Transplantation - Category: Transplant Surgery Authors: Tags: (64) Source Type: research
We describe a rare case of concomitant moderately severe tricuspid and mitral valve stenosis because of ongoing amyloid deposition in a patient with progressive multiple myeloma and fat pad biopsy ‐proven light chain amyloidosis. Worsening infiltrative cardiomyopathy and valvulopathy despite evidence‐based chemotherapy and heart failure pharmacotherapy led to end‐stage disease and death. Valvular involvement in cardiac amyloidosis requires early recognition of the underlying disease con dition to guide directed medical therapy and prevent its progression. In this instance, valvuloplasty or valve replacement is not a viable option.
Source: ESC Heart Failure - Category: Cardiology Authors: Tags: Case Report Source Type: research
Cardiac Amyloidosis (CAm) is an infiltrative disease caused by abnormal extracellular protein deposits in the myocardium, leading to restrictive cardiomyopathy. The cardinal clinical manifestation is congestion resulting in symptomatic heart failure (HF). Relief of congestion is achieved with high dose loop diuretics and regularly requires hospitalization for intravenous (IV) diuresis. Additionally, CAm is a challenge to manage given sensitivity to preload and afterload, low systemic blood pressures, and inefficacy of advanced therapies typically used in HF.
Source: Heart and Lung - Category: Intensive Care Authors: Source Type: research
Publication date: Available online 17 December 2019Source: Canadian Journal of CardiologyAuthor(s): Bennett Di Giovanni, Dakota Gustafson, Mitchell B. Adamson, Diego H. DelgadoAbstractAmyloidosis is a term used to describe a group of rare, heterogenous diseases which ultimately result in the deposition and accumulation of misfolded proteins. These misfolded proteins, known as amyloid, are associated with a variety of precursor proteins which have amyloidogenic potential. Ultimately, the specific type of amyloidosis is dependent on multiple factors including genetic variability of precursor proteins and the tissue/organ in ...
Source: Canadian Journal of Cardiology - Category: Cardiology Source Type: research
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