Challenges and Strategies in the Diagnosis of Cardiac Amyloidosis

Publication date: Available online 30 September 2019Source: Canadian Journal of CardiologyAuthor(s): Nowell M. FineAbstractThe diagnosis of cardiac amyloidosis can be challenging because it is regarded as a rare disease, frequently presents with nonspecific signs and symptoms, and there are a variety of diagnostic tests available. Approaches for the evaluation of patients with suspected cardiac amyloidosis have improved dramatically in recent years. The initial work-up is similar to all patients with heart failure, and certain findings on routine investigations may heighten the index of suspicion. Laboratory testing to screen for light chain (AL) amyloidosis must be performed in all patients, prompting further hematologic assessment if abnormalities are identified. Nuclear scintigraphy with bone seeking radiotracer has emerged as an effective technique for diagnosing cardiac transthyretin amyloidosis (ATTR) non-invasively. Patients with ATTR cardiac amyloidosis should be referred for genetic testing to confirm or exclude a transthyretin gene mutation. Endomyocardial biopsy remains the diagnostic gold-standard and should be performed if the evaluation yields equivocal or discordant findings, however is becoming necessary less often due to the improved diagnostic yield of non-invasive cardiac imaging modalities. As a result, patients may be diagnosed at earlier stages of disease, potentially improving their likelihood of response to therapy and overall prognosis.
Source: Canadian Journal of Cardiology - Category: Cardiology Source Type: research

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This article will review ATTR cardiac amyloidosis to provide physicians with the tools they need to establish a definitive diagnosis when there is a clinical suspicion of amyloidosis and provide the most appropriate care. Expert commentary: Increased awareness and improved diagnostic techniques will lead to earlier diagnosis and a greater understanding of the clinical presentation. The anticipated increases in the prevalence of this disease due to increased clinical awareness will require, and in-part, facilitate the development of new therapies to manage this patient population. PMID: 31478389 [PubMed - as supplied by publisher]
Source: Expert Review of Cardiovascular Therapy - Category: Cardiology Tags: Expert Rev Cardiovasc Ther Source Type: research
Rationale: Cardiac amyloidosis, considered for the last years to be a rare disease, is one of the determinants of HFpEF. The non-specific clinical presentation and the difficulties related to endomyocardial biopsy have made cardiac amyloidosis an underdiagnosed clinical entity. Improvement of non-invasive diagnostic techniques and the development of new therapies increased clinical awareness for this form of restrictive cardiomyopathy. We here summarize echocardiography and 99mTc-HDP scintigraphy findings in 6 cases of cardiac amyloidosis and review the literature data of this progressive and fatal cardiomyopathy. Patie...
Source: Medicine - Category: Internal Medicine Tags: Research Article: Clinical Case Report Source Type: research
MONDAY, May 6, 2019 -- Vyndaqel (tafamidis meglumine) and Vyndamax (tafamidis) capsules have been approved to treat adults with cardiomyopathy caused by transthyretin mediated amyloidosis (ATTR-CM), the U.S. Food and Drug Administration announced...
Source: Drugs.com - Pharma News - Category: Pharmaceuticals Source Type: news
ConclusionsHereditary ATTR is a rare disease but is present in nonendemic areas and should therefore be considered in the differential diagnosis of patients with polyneuropathy and/or heart failure with preserved ejection fraction.ResumenAntecedente y objetivoExisten 2 tipos de amiloidosis producidas por depósitos de transtiretina, el tipo salvaje (wt-ATTR) y el tipo mutante (m-ATTR), transmitido por herencia autosómica dominante con penetrancia variable, manifestándose con clínica neurológica y/o cardíaca. Describimos 3 familias afectadas por m-ATTR diagnosticadas en un áre...
Source: Revista Clinica Espanola - Category: Internal Medicine Source Type: research
Fight Aging! provides a weekly digest of news and commentary for thousands of subscribers interested in the latest longevity science: progress towards the medical control of aging in order to prevent age-related frailty, suffering, and disease, as well as improvements in the present understanding of what works and what doesn't work when it comes to extending healthy life. Expect to see summaries of recent advances in medical research, news from the scientific community, advocacy and fundraising initiatives to help speed work on the repair and reversal of aging, links to online resources, and much more. This content is...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Perhaps a score of the countless proteins in the human body misfold in large amounts in later life. The misfolded form is insoluble, leading to solid deposits of the protein in and around cells. These problem proteins are known as amyloids, and the accumulation of amyloids is one of the root causes of aging. Amyloidosis conditions arise from the presence of amyloid and the disruptive effect it has on cellular biochemistry. The best known form of amyloid is the amyloid-β thought to cause Alzheimer's disease, but the research community is beginning to appreciate that other forms may be just as big a problem over the cou...
Source: Fight Aging! - Category: Research Authors: Tags: Medicine, Biotech, Research Source Type: blogs
Fight Aging! provides a weekly digest of news and commentary for thousands of subscribers interested in the latest longevity science: progress towards the medical control of aging in order to prevent age-related frailty, suffering, and disease, as well as improvements in the present understanding of what works and what doesn't work when it comes to extending healthy life. Expect to see summaries of recent advances in medical research, news from the scientific community, advocacy and fundraising initiatives to help speed work on the repair and reversal of aging, links to online resources, and much more. This content is...
Source: Fight Aging! - Category: Research Authors: Tags: Newsletters Source Type: blogs
Cardiac amyloidosis – most commonly resulting from deposition of misfolded light chain (AL) or transthyretin (ATTR) protein - is an underappreciated cause of heart failure.[1, 2] Commonly thought to be a rare disease, undiagnosed cardiac amyloidosis has been identified in numerous populations including 10-20% of elde rly patients with heart failure and preserved ejection fraction (HFpEF),[3] severe aortic stenosis,[4] and Afro-Caribbean patients with decompensated heart failure.[5] Despite this recent evidence, many clinicians indicate that they have never seen a case of cardiac amyloidosis, suggesting that the diagn...
Source: Journal of Cardiac Failure - Category: Cardiology Authors: Tags: Editorial Source Type: research
Abstract Cardiac amyloidosis (CA) has been believed to be a rare disease for a long time, but recent sophisticated diagnostic modalities demonstrate that a considerable number of CA patients are hidden among those diagnosed with heart failure. Prognosis of CA was poor, but recent developments in therapeutic interventions have improved survival in these patients. Therefore, early detection and precise diagnosis is clinically important. In this review article, we overview recent progress in diagnosis and treatment for CA. PMID: 29113705 [PubMed - as supplied by publisher]
Source: Journal of Cardiology - Category: Cardiology Authors: Tags: J Cardiol Source Type: research
Background: Cardiac amyloidosis is a group of rare diseases resulting from extracellular deposition of amyloid protein, principally due to light chain (AL) amyloid or acquired or hereditary changes in TTR protein. Transthyretin cardiac amyloidosis (TTR) is increasingly recognized as an important cause of heart failure with preserved ejection fraction; the frequency of diagnosis has noted to be increasing. We aimed to investigate the changing phenotype and survival over time of patients diagnosed with cardiac amyloidosis at the Center for Advanced Cardiac Care (CACC).
Source: Journal of Cardiac Failure - Category: Cardiology Authors: Source Type: research
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