84
views
0
recommends
+1 Recommend
1 collections
    1
    shares
      • Record: found
      • Abstract: found
      • Article: found

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

      research-article

      Read this article at

      ScienceOpenPublisherPMC
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          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.

          Related collections

          Most cited references36

          • Record: found
          • Abstract: found
          • Article: found

          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.
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            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.
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              Tenosynovial and Cardiac Amyloidosis in Patients Undergoing Carpal Tunnel Release

              Patients with cardiac amyloidosis often have carpal tunnel syndrome that precedes cardiac manifestations by several years. However, the prevalence of cardiac involvement at the time of carpal tunnel surgery has not been established.
                Bookmark

                Author and article information

                Journal
                101479941
                35681
                Circ Heart Fail
                Circ Heart Fail
                Circulation. Heart failure
                1941-3289
                1941-3297
                28 August 2019
                04 September 2019
                September 2019
                04 September 2020
                : 12
                : 9
                : e006075
                Affiliations
                [1 ]Columbia University Medical Center, New York, NY, USA
                [2 ]Referral Center for Cardiac Amyloidosis, GRC Amyloid Research Institute, Department of Cardiology, DHU A-TVB, APHP CHU Henri Mondor and Université Paris Est Créteil, Créteil, France
                [3 ]Brigham and Women’s Hospital, Boston, MA, USA
                [4 ]University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA
                [5 ]University College London, London, United Kingdom
                [6 ]Mayo Clinic, Rochester, MN, USA
                [7 ]University of Heidelberg, Heidelberg, Germany
                [8 ]Amyloidosis Research Consortium, Newton, MA, USA
                [9 ]University of Utah Health, Salt Lake City, UT, USA
                [10 ]Alma Mater Studiorum University of Bologna, Bologna, Italy
                [11 ]Boston University School of Medicine, Boston Medical Center, Boston, MA, USA
                [12 ]Stanford University School of Medicine, Stanford, CA, USA
                [13 ]Amyloidosis Center Foundation IRCCS Policlinico San Matteo, San Matteo, Italy
                [14 ]Department of Molecular Medicine, University of Pavia, Pavia, Italy
                Author notes
                Correspondence: Mathew S. Maurer, MD, Columbia University Medical Center, 622 West 168th Street, New York, NY 10032, Phone: 212-305-9808, Fax: 212-305-7439, msm10@ 123456cumc.columbia.edu
                Article
                PMC6736650 PMC6736650 6736650 nihpa1535980
                10.1161/CIRCHEARTFAILURE.119.006075
                6736650
                31480867
                9331a1e0-5405-491c-8b4a-5f478967a2e9
                History
                Categories
                Article

                ATTR-CM,Echocardiography,Magnetic Resonance Imaging (MRI),Prognosis,cardiomyopathy,transthyretin,Computerized Tomography (CT),diagnosis,ATTR amyloidosis,Diagnostic Testing,Electrocardiology (ECG),Nuclear Cardiology and PET

                Comments

                Comment on this article