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      Expert Consensus Recommendations for the Suspicion and Diagnosis of Transthyretin Cardiac Amyloidosis

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          Abstract

          Cardiomyopathy is a manifestation of transthyretin amyloid (ATTR) amyloidosis, which is an underrecognized systemic disease whereby the transthyretin protein misfolds to form fibrils that deposit in various tissues and organs. ATTR amyloidosis is debilitating and associated with poor life expectancy, especially in those with cardiac dysfunction, but a variety of treatment options have recently become available. Considered a rare disease, ATTR amyloidosis may be more prevalent than thought, particularly in older persons. Diagnosis is often delayed because of a lack of disease awareness and the heterogeneity of symptoms at presentation. Given the recent availability of effective treatments, early recognition and diagnosis are especially critical because treatment is likely more effective earlier in the disease course. The Amyloidosis Research Consortium recently convened a group of experts in ATTR amyloidosis who, through an iterative process, agreed on best practices for suspicion, diagnosis, and characterization of disease. This review describes these consensus recommendations for ATTR associated with cardiomyopathy (ATTR-CM) as a resource to aid cardiologists and others in the recognition and diagnosis of ATTR-CM. Included in this review is an overview of red flag signs and symptoms and a recommended diagnostic approach, including testing for monoclonal protein, scintigraphy, or biopsy and, if ATTR-CM is identified, TTR genotyping.

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          Most cited references 36

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          Addressing Common Questions Encountered in the Diagnosis and Management of Cardiac Amyloidosis.

          Advances in cardiac imaging have resulted in greater recognition of cardiac amyloidosis in everyday clinical practice, but the diagnosis continues to be made in patients with late-stage disease, suggesting that more needs to be done to improve awareness of its clinical manifestations and the potential of therapeutic intervention to improve prognosis. Light chain cardiac amyloidosis, in particular, if recognized early and treated with targeted plasma cell therapy, can be managed very effectively. For patients with transthyretin amyloidosis, there are numerous therapies that are currently in late-phase clinical trials. In this review, we address common questions encountered in clinical practice regarding etiology, clinical presentation, diagnosis, and management of cardiac amyloidosis, focusing on recent important developments in cardiac imaging and biochemical diagnosis. The aim is to show how a systematic approach to the evaluation of suspected cardiac amyloidosis can impact the prognosis of patients in the modern era.
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            Variant-sequence transthyretin (isoleucine 122) in late-onset cardiac amyloidosis in black Americans.

            After the age of 60, isolated cardiac amyloidosis is four times more common among blacks than whites in the United States; 3.9 percent of blacks are heterozygous for an amyloidogenic allele of the normal serum carrier protein transthyretin in which isoleucine is substituted for valine at position 122 (Ile 122). We hypothesized that the high prevalence of transthyretin Ile 122 is at least partially responsible for the increased frequency of senile cardiac amyloidosis among blacks. Paraffin blocks of cardiac tissue were obtained from an earlier study of 52,370 autopsies in Los Angeles and were examined by immunohistochemical and DNA analyses. Samples were available from 32 of 55 blacks and 20 of 78 whites over 60 years of age with isolated cardiac amyloidosis and from two control groups (228 cases). Transthyretin amyloidosis was identified in 31 of the 32 cardiac-tissue samples from the black patients and in 19 of the 20 samples from the white patients. Six of the 26 analyzable DNA samples (23 percent) from the black patients and none of the 19 samples from the white patients were heterozygous for the Ile 122 variant. Four of 125 DNA samples obtained at autopsy (3.2 percent) from a second, more recent, age-matched cohort of blacks without amyloidosis at the same institution were heterozygous for the transthyretin Ile 122 allele. On reexamination the cardiac tissue from these four patients contained small amounts of amyloid not detected at the initial autopsies. All subjects with the Ile 122 variant had ventricular amyloid. The assessment of elderly black patients with unexplained heart disease should include a consideration of transthyretin amyloidosis, particularly that related to the Ile 122 allele.
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              Imaging cardiac amyloidosis: a pilot study using ¹⁸F-florbetapir positron emission tomography.

              Cardiac amyloidosis, a restrictive heart disease with high mortality and morbidity, is underdiagnosed due to limited targeted diagnostic imaging. The primary aim of this study was to evaluate the utility of (18)F-florbetapir for imaging cardiac amyloidosis.
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                Author and article information

                Journal
                Circulation: Heart Failure
                Circ: Heart Failure
                Ovid Technologies (Wolters Kluwer Health)
                1941-3289
                1941-3297
                September 2019
                September 2019
                : 12
                : 9
                Affiliations
                [1 ]Division of Cardiology, Department of Medicine, Columbia University Medical Center, New York (M.S.M., S.B.).
                [2 ]Department of Cardiology, Center for Cardiac Amyloidosis, GRC Amyloid Research Institute, DHU A-TVB, APHP CHU Henri Mondor and Université Paris Est Créteil, France (T.D.).
                [3 ]Division of Nuclear Medicine and Molecular Imaging, Department of Radiology, Brigham and Women’s Hospital, Boston, MA (S.D.).
                [4 ]Department of Cardiovascular Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia (B.M.D.).
                [5 ]National Amyloidosis Centre, Division of Medicine, University College London, United Kingdom (M.F., C.C.Q.).
                [6 ]Cardiovascular Medicine, Mayo Clinic, Rochester, MN (M.G.).
                [7 ]Department of Cardiology, Amyloidosis Center, University of Heidelberg, Germany (A.V.K.).
                [8 ]Amyloidosis Research Consortium, Newton, MA (I.L.).
                [9 ]Division of Cardiovascular Medicine, University of Utah Health, Salt Lake City (J.N.-N.).
                [10 ]Department of Experimental, Diagnostic and Specialty Medicine, Alma Mater Studiorum University of Bologna, Italy (C.C.Q., C.R.).
                [11 ]Cardiovascular Center, Boston University School of Medicine, Boston Medical Center, MA (F.L.R.).
                [12 ]Stanford Amyloid Center, Division of Cardiovascular Medicine, Stanford University School of Medicine, CA (R.W.).
                [13 ]Amyloidosis Center Foundation IRCCS Policlinico San Matteo, Italy (G.M.).
                [14 ]Department of Molecular Medicine, University of Pavia, Italy (G.M.).
                Article
                10.1161/CIRCHEARTFAILURE.119.006075
                6736650
                31480867
                © 2019

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