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  • 1
    In: Rheumatology, 2016, Vol. 55(suppl1), pp.i83-i83
    Keywords: Medicine;
    ISSN: 1462-0324
    E-ISSN: 1462-0332
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  • 2
    Article
    Article
    BMJ Publishing Group Ltd and British Cardiovascular Society
    Language: English
    In: Heart, 11 November 2012, Vol.98(21), p.1546
    Description: Cardiac amyloidosis of transthyretin fibril protein (ATTR) type is an infiltrative cardiomyopathy characterised by ventricular wall thickening and diastolic heart failure. Increased access to cardiovascular magnetic resonance imaging has led to a marked increase in referrals to our centre of Caucasian patients with wild-type ATTR (senile systemic) amyloidosis and Afro-Caribbean patients with the hereditary ATTR V122I type. Both subtypes present predominantly as isolated cardiomyopathy. The differential diagnosis includes cardiac amyloid light-chain (AL) amyloidosis, which has a poorer prognosis and can be amenable to chemotherapy. We review here the clinical features of cardiac ATTR amyloidosis and describe the diagnostic tests to determine ATTR type. Correct diagnosis is ever more crucial given that several novel therapies for ATTR amyloidosis are on the near horizon.
    Keywords: Cardiac Amyloidosis ; Cardiovascular Mri ; Cardiomyopathy ; Valvular Disease ; Cardiac Function ; Cardiac Remodelling ; Interventional Cardiology ; Non-Coronary Intervention ; Percutaneous Valve Therapy ; Heart Failure ; Systolic Heart Failure ; Diastolic Dysfunction ; Myocardial Disease ; Cardiomyopathy Restrictive
    ISSN: 1355-6037
    ISSN: 13556037
    E-ISSN: 1468-201X
    E-ISSN: 1468201X
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  • 3
    Language: English
    In: The Lancet, 25 June 2016, Vol.387(10038), pp.2641-2654
    Description: Tissue deposition of protein fibrils causes a group of rare diseases called systemic amyloidoses. This Seminar focuses on changes in their epidemiology, the current approach to diagnosis, and advances in treatment. Systemic light chain (AL) amyloidosis is the most common of these conditions, but wild-type transthyretin cardiac amyloidosis (ATTRwt) is increasingly being diagnosed. Typing of amyloid fibrils, a critical determinant of therapy, has improved with the wide availability of laser capture and mass spectrometry from fixed histological tissue sections. Specific and accurate evaluation of cardiac amyloidosis is now possible using cardiac magnetic resonance imaging and cardiac repurposing of bone scintigraphy tracers. Survival in AL amyloidosis has improved markedly as novel chemotherapy agents have become available, but challenges remain in advanced disease. Early diagnosis, a key to better outcomes, still remains elusive. Broadening the amyloid-specific therapeutic landscape to include RNA inhibitors, fibril formation stabilisers and inhibitors, and immunotherapeutic targeting of amyloid deposits holds promise to transform outcomes in systemic amyloidoses.
    Keywords: Medicine
    ISSN: 0140-6736
    E-ISSN: 1474-547X
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  • 4
    Language: English
    In: Journal of the American College of Cardiology, 27 March 2012, Vol.59(13), pp.E993-E993
    Description: To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/S0735-1097(12)60994-2 Byline: Jason Dungu, Mark S. O'Donnell, Philip N. Hawkins, Lisa J. Anderson Author Affiliation: St George's University of London, London, United Kingdom, UK National Amyloidosis Centre, London, United Kingdom Article Note: (footnote) ACC Moderated Poster Contributions McCormick Place South, Hall A Monday, March 26, 2012, 11:00 a.m.-Noon Session Title: What's New in Cardiac Amyloidosis and Dilated Cardiomyopathy Abstract Category: 14. Heart Failure: Clinical Presentation Number: 1218-250
    Keywords: Medicine
    ISSN: 0735-1097
    E-ISSN: 1558-3597
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  • 5
    Language: English
    In: Arthritis and rheumatism, February 2011, Vol.63(2), pp.314-24
    Keywords: Autoimmune Diseases -- Immunology ; Autoimmunity -- Immunology ; Immunity, Innate -- Immunology ; Interleukin-1beta -- Immunology
    E-ISSN: 1529-0131
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  • 6
    In: Kidney International, 2014
    Description: Amyloidosis results from protein misfolding, and ongoing amyloid deposition can ultimately lead to organ failure and death. Historically, this is a group of diseases with limited treatment options and frequently poor prognosis. However, there are now ‘targeted’ therapeutics emerging in the form of stabilizers of the precursor protein, inhibitors of fibrillogenesis, fibril disruptors, and blockers of protein translation, transcription, and immunotherapy. We review many of these approaches that are currently being assessed in clinical trials.
    Keywords: Amyloidosis ; Chemotherapy ; Diflunisal ; Eprodisate ; Immunotherapy ; Oligonucleotides ; Medicine;
    ISSN: 0085-2538
    E-ISSN: 15231755
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  • 7
    Language: English
    In: Journal of the American College of Cardiology, 27 March 2012, Vol.59(13), pp.E1574-E1574
    Description: To link to full-text access for this article, visit this link: http://dx.doi.org/10.1016/S0735-1097(12)61575-7 Byline: Jason Dungu, Oswaldo Valencia, Aigul Baltabaeva, Tarek FT Antonios, Philip N. Hawkins, Lisa J. Anderson Author Affiliation: St George's University of London, London, United Kingdom, UK National Amyloidosis Centre, London, United Kingdom Article Note: (footnote) ACC Moderated Poster Contributions McCormick Place South, Hall A Sunday, March 25, 2012, 11:00 a.m.-Noon Session Title: Pericardial/Myocardial Disease IV Abstract Category: 12. Pericardial/Myocardial Disease Presentation Number: 1126-119
    Keywords: Medicine
    ISSN: 0735-1097
    E-ISSN: 1558-3597
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  • 8
    Language: English
    In: Journal of the American College of Cardiology, 09 October 2018, Vol.72(15), pp.1881-1881
    Keywords: Medicine
    ISSN: 0735-1097
    E-ISSN: 1558-3597
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  • 9
    Article
    Article
    Language: English
    In: Orphanet Journal of Rare Diseases, 2015, Vol.10(Suppl 1), p.I10
    Keywords: Medicine;
    ISSN: 1750-1172
    Source: CrossRef
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  • 10
    Language: English
    In: Oncology (Williston Park, N.Y.), February 2012, Vol.26(2), pp.161-2, 164
    Description: The authors present two cases that illustrate the frequent problem of late diagnosis that can arise when patients present with nonspecific clinical features. It is also possible that a lingering perception that amyloidosis is untreatable may discourage further diagnostic workup, which generally requires biopsy confirmation, especially in the older patients among whom AL amyloidosis is most common. However, the authors emphasize that certain combinations of clinical features should trigger investigation for amyloidosis, including co- existent peripheral and autonomic neuropathy, cardiac failure in association with proteinuria or marked gastrointestinal symptoms, and left ventricular "hypertrophy" in the absence of a clear cause. The index of suspicion should be heightened in patients with monoclonal gammopathy of undetermined significance (MGUS), in whom the suspicion of transformation into AL amyloidosis may be signalled by asymptomatic proteinuria on routine dip stick testing, or by elevation of the serum cardiac biomarker N-terminal fragment of brain natriuretic peptide (NT-proBNP).[l] Regrettably, the majority of patients with AL amyloidosis present out of the blue, and there is often major amyloid involvement of at least one vital organ system at diagnosis. A recent advance that would have been informative in both patients described by [Gertz] and [Dispenzieri] is cardiac MRI, [2] which can reliably differentiate between myocardial hypertrophy and expansion of the interstitial space by amyloid deposition. Increased access to cardiac MRI has lately led to a remarkable increase in diagnosis and referral to the UK National Amyloidosis Centre of patients with senile transthyretin cardiac amyloidosis, who almost always present with heart failure associated with preserved systolic function. In addition to cardiac MRI, we have also lately validated 99m-labeled technetium-3,3-diphosphono-l,2-propanodicarboxylic acid (99mTc-DPD) CT-SPECT scintigraphy in our center as a sensitive, quantitative method for imaging transthyretin cardiac amyloid deposits. This bone scan tracer localizes with great affinity in all patients with cardiac transthyretin amyloid, and in a significant proportion of those with AL type, although the basis for this is not known. [3] Our favorable recent experience of cardiac MRI and 99mTc-DPD scintigraphy has not eliminated a conundrum in some patients, which is applicable to the first case presented by Drs. Gertz and Dispenzieri. Is the amyloid detected peripherally in an abdominal fat aspirate necessarily the same type as that in the heart of an elderly patient? Senile cardiac amyloidosis has a better prognosis than AL amyloidosis and is not amenable to chemotherapy; it is vital not to subject an elderly MGUS patient with senile cardiac transthyretin amyloidosis to chemotherapy At present, cardiac biopsy is the only way to definitively distinguish cardiac transthyretin (TTR) from AL amyloidosis, and while endomyocardial biopsies must be performed selectively, we are optimistic that algorithms based on some or all of the many cardiac investigations now available can be developed to provide guidance in this area.
    Keywords: Amyloidosis -- Drug Therapy ; Immunoglobulin Light Chains -- Metabolism
    ISSN: 0890-9091
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