1,034 results match your criteria Amyloidosis Transthyretin-Related


First Follow-Up of Cardiac Amyloidosis Treated by Tafamidis, Evaluated by Absolute Quantification in Bone Scintigraphy.

JACC Case Rep 2021 Jan 20;3(1):133-135. Epub 2021 Jan 20.

Department of Cardiology, Le Bois Private Hospital, Lille, France.

Assessment of absolute myocardial hydroxydimethylene diphosphonate-technetium-99m uptake using standardized uptake value with a single-photon emission computed tomography-computed tomography cadmium zinc telluride camera (Discovery NM/CT 670CZT, GE Healthcare, Chicago, Illinois) in a patient with cardiac transthyretin-related amyloidosis treated with tafamidis showed a decrease in hydroxydimethylene diphosphonate cardiac uptake. This imaging technique should be helpful in monitoring therapy and evaluating prognosis. (). Read More

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January 2021

Electro-clinical presentation of hereditary transthyretin related amyloidosis when presenting as a polyneuropathy of unknown origin in northern France.

Rev Neurol (Paris) 2021 Jul 9. Epub 2021 Jul 9.

Centre de référence des Maladies Neuromusculaires, CHU Lille, 59000 Lille, France; Service de Neurologie et pathologie du mouvement, CHU Lille, 59000 Lille, France.

Introduction: Hereditary transthyretin related amyloidosis (h-ATTR) classically presents as a small fiber neuropathy with positive family history, but can also be revealed by various other types of peripheral neuropathy.

Objective: To describe the initial electro-clinical presentation of patients from in a single region (northern France) of h-ATTR when it presents as a polyneuropathy of unknown origin.

Method: We reviewed the records of patients referred to two neuromuscular centers from northern France with a peripheral neuropathy of unknown origin who were subsequently diagnosed with h-ATTR. Read More

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Early Impairment of Right Ventricular Morphology and Function in Transthyretin-Related Cardiac Amyloidosis.

J Cardiovasc Echogr 2021 Jan-Mar;31(1):17-22. Epub 2021 May 21.

Department of Clinical and Experimental Medicine, Cardiology Unit, University of Messina, AOU "Policlinico G. Martino," Messina, Italy.

Background: Our study aimed to evaluate right ventricular (RV) morphology and strain (S) in the early stage of familial transthyretin (TTR) cardiac amyloidosis (CA).

Methods And Results: Thirty-seven patients with transthyretin mutation underwent Tc-3,3-diphosphono-1,2 propanodicarboxylic acid (Tc-DPD) scans and/or cardiac magnetic resonance (CMR) to identify TTR CA. Each patient underwent echocardiography to quantify RV dimensions, tricuspid annular plane systolic excursion (TAPSE), systolic pulmonary artery pressure (sPAP), longitudinal (L) strain of the RV free wall, left ventricular (LV) septal thickness (ST), ejection fraction, E/E', LV global (G) L, radial (R), and circumferential (C) S. Read More

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Cardiac Amyloidosis: Presentations, Diagnostic Work-up and Collaborative Approach for Comprehensive Clinical Management.

Curr Probl Cardiol 2021 May 29:100910. Epub 2021 May 29.

John Ochsner Heart and Vascular Institute, Ochsner Medical Center, New Orleans, LA; Section of Cardiomyopathy & Heart Transplantation, John Ochsner Heart and Vascular Institute, Ochsner Clinic Foundation, New Orleans, LA; The University of Queensland School of Medicine, Ochsner Clinical School, New Orleans, LA. Electronic address:

Cardiac amyloidosis is a systemic disease characterized by continuous deposition of misfolded proteins called amyloid fibrils in the extracellular space which result in restrictive cardiomyopathy. The most common form of cardiac amyloidosis is light chain (AL) cardiac amyloidosis, a result of continuous deposition of misfolded monoclonal immunoglobulin light chains. Transthyretin-related cardiac amyloidosis (ATTR) results from a point mutation in the transthyretin gene in an autosomal dominant fashion and presents phenotypically similar to AL cardiac amyloidosis. Read More

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Transthyretin amyloidosis and herpes zoster infection: a mimic of temporal arteritis.

BMJ Case Rep 2021 Jun 24;14(6). Epub 2021 Jun 24.

Internal Medicine, Division of Rheumatology, Albany Medical Center, Albany, New York, USA.

We describe the case of a patient who presented with symptoms of persistent headaches, left-sided facial pain and blurry vision of the left eye. The patient had recovered from a herpes zoster infection of the V1 division of the trigeminal nerve 1 month prior. Serum inflammatory markers were elevated, raising concern for temporal arteritis. Read More

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Val50Met hereditary transthyretin amyloidosis: not just a medical problem, but a psychosocial burden.

Orphanet J Rare Dis 2021 06 10;16(1):266. Epub 2021 Jun 10.

Servicio de Medicina Interna, Hospital Universitario Son Llàtzer, Crta Manacor Km 4, 07198, Palma, Balearic Islands, Spain.

Background: Hereditary transthyretin (TTR) amyloidosis (ATTRv) is a heterogeneous disease with a clinical presentation that varies according to geographical area and TTR mutation. The symptoms of Val50Met-ATTRv are mainly neuropathic and progress to complete disability and death in most untreated patients within 10 to 15 years of diagnosis. The neurological effects may also be accompanied by gastrointestinal impairment, cardiomyopathy, nephropathy and/or ocular deposition. Read More

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Potential Cardiac Amyloid PET/CT Imaging Targets for Differentiating Immunoglobulin Light Chain From Transthyretin Amyloidosis.

Curr Cardiol Rep 2021 06 3;23(7):76. Epub 2021 Jun 3.

University of Maryland School of Medicine, Division of Nuclear Medicine, Baltimore, MD, 21201, USA.

Purpose Of The Review: Cardiac involvement in amyloidosis plays a critical role in the clinical manifestation and prognostication. Since advanced treatment options for immunoglobulin light chains (AL) or liver-generated protein transthyretin (TTR) are quite different, a non-invasive and comprehensive imaging approach for the identification and characterization of these forms of cardiac amyloidosis is warranted.

Recent Findings: Various Flabeled radiotracers and positron emission tomography (PET) imaging have been appreciated as a as a valid and non-invasive diagnostic approach to identify and quantify disease activity of cardiac amyloidosis. Read More

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Neurological involvement in Ile68Leu (p.Ile88Leu) ATTR amyloidosis: not only a cardiogenic mutation.

Amyloid 2021 May 28:1-9. Epub 2021 May 28.

UOC Neurologia, IRCCS Scienze Neurologiche, Bellaria Hospital, Bologna, Italy.

Background: Ile68Leu transthyretin-related amyloidosis (ATTR) is known as a mainly or exclusively cardiogenic variant. We hypothesized that an accurate specialized neurological evaluation could reveal a consistent frequency of mixed phenotypes.

Methods: Forty-six consecutive subjects with transthyretin (TTR) Ile68Leu (p. Read More

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A human antibody selective for transthyretin amyloid removes cardiac amyloid through phagocytic immune cells.

Nat Commun 2021 05 25;12(1):3142. Epub 2021 May 25.

Neurimmune, Schlieren, Switzerland.

Transthyretin amyloid (ATTR) cardiomyopathy is a debilitating disease leading to heart failure and death. It is characterized by the deposition of extracellular ATTR fibrils in the myocardium. Reducing myocardial ATTR load is a therapeutic goal anticipated to translate into restored cardiac function and improved patient survival. Read More

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Hereditary Transthyretin Amyloidosis- Clinical and Genetic Characteristics of a Multiracial South-East Asian Cohort in Singapore.

J Neuromuscul Dis 2021 ;8(4):723-733

Department of Neurology, National Neuroscience Institute, Tan Tock Seng Hospital, Singapore.

Background And Aims: Studies of hereditary transthyretin amyloidosis (ATTRv amyloidosis) in South-East Asia are underrepresented in the literature. We report the unique phenotypic and genetic characteristics of this disorder in a multiracial South-East Asian cohort.

Methods: Patients with genetically proven ATTRv amyloidosis were identified over a 13-year period (2007-2020) at the National Neuroscience Institute, Singapore. Read More

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January 2021

Ala97Ser transthyretin amyloidosis-associated polyneuropathy, clinical and neurophysiological profiles in a Thai cohort.

BMC Neurol 2021 May 22;21(1):206. Epub 2021 May 22.

Division of Neurology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand.

Background: Ala97Ser transthyretin amyloidosis-associated polyneuropathy (ATTRA97S-PN) is a rare form of inherited polyneuropathy, usually manifesting with late-onset (> 50) progressive polyneuropathy. This mutation is mostly prevalent in Taiwanese and Han-Chinese individuals. The aim of this study was to describe the clinical and comprehensive neurophysiological profiles of ATTRA97S-PN in Thai patients. Read More

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Value of Longitudinal Strain to Identify Wild-Type Transthyretin Amyloidosis in Patients With Aortic Stenosis.

Circ J 2021 May 11. Epub 2021 May 11.

Department of Cardiology, Rangueil University Hospital.

Background: Wild-type transthyretin-related amyloidosis (ATTRwt) and degenerative aortic stenosis (AS) are both age-related. Diagnosis of cardiac amyloidosis (CA) among patients with AS may be difficult due to overlapping morphological and functional criteria. The aim of this study was to describe an echocardiographic longitudinal strain (LS) pattern among patients with AS with and without ATTRwt. Read More

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Development of siRNA Therapeutics for the Treatment of Liver Diseases.

Methods Mol Biol 2021 ;2282:57-75

Center for RNA Medicine, Department of Clinical Medicine, Aalborg University, Copenhagen, Denmark.

Small interfering RNA (siRNA)-based therapeutics holds the promise to treat a wide range of human diseases that are currently incurable using conventional therapies. Most siRNA therapeutic efforts to date have focused on the treatment of liver diseases due to major breakthroughs in the development of efficient strategies for delivering siRNA drugs to the liver. Indeed, the development of lipid nanoparticle-formulated and GalNAc-conjugated siRNA therapeutics has resulted in recent FDA approvals of the first siRNA-based drugs, patisiran for the treatment of hereditary transthyretin amyloidosis and givosiran for the treatment of acute hepatic porphyria, respectively. Read More

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Transthyretin Misfolding, A Fatal Structural Pathogenesis Mechanism.

Int J Mol Sci 2021 Apr 23;22(9). Epub 2021 Apr 23.

Department of New Biology, Daegu Gyeongbuk Institute of Science & Technology (DGIST), Daegu 42988, Korea.

Transthyretin (TTR) is an essential transporter of a thyroid hormone and a holo-retinol binding protein, found abundantly in human plasma and cerebrospinal fluid. In addition, this protein is infamous for its amyloidogenic propensity, causing various amyloidoses in humans, such as senile systemic amyloidosis, familial amyloid polyneuropathy, and familial amyloid cardiomyopathy. It has been known for over two decades that decreased stability of the native tetrameric conformation of TTR is the main cause of these diseases. Read More

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Wild type transthyretin cardiac amyloidosis in a young individual: A case report.

Medicine (Baltimore) 2021 Apr;100(17):e25462

Department of Biological Sciences and Bioengineering, Indian Institute of Technology Kanpur, Uttar Pradesh.

Rationale: Senile systemic amyloidosis, a disease of elderly is caused by amyloid deposition of wild-type transthyretin. The symptoms often overlap with other heart diseases. Hence it is either misdiagnosed or considered as a normal aging process in majority of cases. Read More

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Carpal Tunnel Syndrome Due to Iatrogenic Amyloidosis After Domino Liver Transplantation From Hereditary Transthyretin Amyloidosis: A Case Report.

Transplant Proc 2021 May 6;53(4):1313-1316. Epub 2021 Apr 6.

Department of Surgery, Kumamoto Rosai Hospital, Kumamoto, Japan.

Background: Carpal tunnel syndrome is the most common compression syndrome of the peripheral nerve. Transthyretin amyloidosis and dialysis-related β2-microglobulin amyloidosis are known causes of carpal tunnel syndrome.

Case Report: A Japanese woman showed carpal tunnel syndrome 16 years after a domino liver transplantation (DLT) from the donor with hereditary transthyretin amyloidosis. Read More

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Periorbital ecchymosis and shoulder pad sign in transthyretin amyloidosis.

BMJ Case Rep 2021 Apr 7;14(4). Epub 2021 Apr 7.

Department of Cardiovascular Medicine, Chiba University Graduate School of Medicine, Chiba, Japan.

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Psychosocial burden and professional and social support in patients with hereditary transthyretin amyloidosis (ATTRv) and their relatives in Italy.

Orphanet J Rare Dis 2021 04 7;16(1):163. Epub 2021 Apr 7.

Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy.

Background: Hereditary transthyretin amyloidosis (hATTR), alias ATTR variant (ATTRv) is a severe and disabling disease causing sensory and motor neuropathy, autonomic dysfunction, and cardiomyopathy. The progressive decline of patient's functional autonomy negatively affects the patient's quality of life and requires increasing involvement of relatives in the patient's daily life. Family caregiving may become particularly demanding when the patient is no longer able to move independently. Read More

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Diphenyl-Methane Based Thyromimetic Inhibitors for Transthyretin Amyloidosis.

Int J Mol Sci 2021 Mar 28;22(7). Epub 2021 Mar 28.

Department of New Biology, Daegu Gyeongbuk Institute of Science & Technology (DGIST), Daegu 42988, Korea.

Thyromimetics, whose physicochemical characteristics are analog to thyroid hormones (THs) and their derivatives, are promising candidates as novel therapeutics for neurodegenerative and metabolic pathologies. In particular, sobetirome (GC-1), one of the initial halogen-free thyromimetics, and newly synthesized IS25 and TG68, with optimized ADME-Tox profile, have recently attracted attention owing to their superior therapeutic benefits, selectivity, and enhanced permeability. Here, we further explored the functional capabilities of these thyromimetics to inhibit transthyretin (TTR) amyloidosis. Read More

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Causes of Cardiovascular Hospitalization and Death in Patients With Transthyretin Amyloid Cardiomyopathy (from the Tafamidis in Transthyretin Cardiomyopathy Clinical Trial [ATTR-ACT]).

Am J Cardiol 2021 06 3;148:146-150. Epub 2021 Mar 3.

Hospital Universitario La Paz, IdiPaz, CIBER-CV, Madrid, Spain.

In the Tafamidis in Transthyretin Cardiomyopathy Clinical Trial (ATTR-ACT), tafamidis significantly reduced mortality and cardiovascular (CV)-related hospitalizations compared with placebo in patients with transthyretin amyloid cardiomyopathy (ATTR-CM). This analysis aimed to assess the causes of CV-related death and hospitalization in ATTR-ACT to provide further insight into the progression of ATTR-CM and efficacy of tafamidis. ATTR-ACT was an international, double-blind, placebo-controlled, and randomized study. Read More

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False-Positive Technetium-Pyrophosphate Scintigraphy in Two Patients With Hypertrophic Cardiomyopathy.

Circ Heart Fail 2021 03 5;14(3):e007558. Epub 2021 Mar 5.

Division of Cardiology within Pauley Heart Center (Z.T., C.R.T., K.R., K.B.S.), Virginia Commonwealth University Health System, Richmond, VA.

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Emerging therapy in light-chain and acquired transthyretin-related amyloidosis: an Italian single-centre experience in heart transplantation.

J Cardiovasc Med (Hagerstown) 2021 Apr;22(4):261-267

Department of Cardiothoracic Science.

Aims: The prognosis for patients affected by light-chain cardiac amyloidosis and acquired transthyretin-related (TTR) amyloidosis is poor. Heart transplantation (HTx) could improve prognosis also enabling autologous stem cell transplantation (ASCT) in the first group.

Methods And Results: A total of 36 patients affected by systemic amyloidosis have been referred to our centre from 2009 to 2019. Read More

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Cardiac Transthyretin Amyloidosis: A Nuclear Medicine Leading Role. Situation in a Spanish Center and "State of the Art" in Nuclear Medicine.

Clin Nucl Med 2021 06;46(6):456-464

From the Department of Nuclear Medicine, UCMHMNA (Multihospital Nuclear Medicine Clinical Unit of Aragon).

Purpose: Amyloidosis is a heterogeneous group of diseases caused by abnormal extracellular deposition of insoluble proteins and can involve myocardium. One of the causes of myocardial involvement is TTR amyloidosis. Our objective has been to evaluate the situation of cardiac amyloidosis (CA) in our center and the role of nuclear medicine, and to review the state of the art of nuclear medicine in this entity. Read More

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Deep-learning-based cardiac amyloidosis classification from early acquired pet images.

Int J Cardiovasc Imaging 2021 Jul 16;37(7):2327-2335. Epub 2021 Feb 16.

Fondazione Toscana "G. Monasterio", Pisa, Italy.

The objective of the present work was to evaluate the potential of deep learning tools for characterizing the presence of cardiac amyloidosis from early acquired PET images, i.e. 15 min after [18F]-Florbetaben tracer injection. Read More

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Rate of neuropathic progression in hereditary transthyretin amyloidosis with polyneuropathy and other peripheral neuropathies: a systematic review and meta-analysis.

BMC Neurol 2021 Feb 12;21(1):70. Epub 2021 Feb 12.

Department of Neurology, Oregon Health & Science University, Portland, OR, USA.

Background: We aimed to compare neuropathic progression rate between hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) and other peripheral neuropathies, including diabetic peripheral neuropathy (DPN) and Charcot-Marie-Tooth disease (CMT).

Methods: Literature searches identified studies reporting neuropathic progression, measured by Neuropathy Impairment Score (NIS) or NIS-Lower Limbs (NIS-LL). Our study also included unpublished data from a clinical registry of patients who were diagnosed with different peripheral neuropathies and seen at the Oregon Health & Science University (OHSU) during 2016-2020. Read More

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February 2021

Increased thickness of lumbar spine ligamentum flavum in wild-type transthyretin amyloidosis.

J Clin Neurosci 2021 Feb 31;84:33-37. Epub 2020 Dec 31.

Tufts Medical Center, Department of Neurosurgery, United States. Electronic address:

Background: Wild-type transthyretin (ATTRwt) amyloid deposits have been found in the ligamentum flavum of patients undergoing surgery for spinal stenosis. The relationship between ATTRwt and ligamentum flavum thickness is unclear. We used pre-operative magnetic resonance imaging (MRI) to analyze ligamentum flavum thickness in lumbar spinal stenosis patients with and without ATTRwt amyloid. Read More

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February 2021

Nuclear cardiology: state of the art.

Heart 2021 Jan 22. Epub 2021 Jan 22.

National Heart and Lung Institute, Royal Brompton Hospital, Imperial College London, London, UK

Radionuclide imaging remains an essential component of modern cardiology. There is overlap with the information from other imaging techniques, but no technique is static and new developments have expanded its role. This review focuses on ischaemic heart disease, heart failure, infection and inflammation. Read More

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January 2021

Strange case of biventricular heart failure.

BMJ Case Rep 2021 Jan 18;14(1). Epub 2021 Jan 18.

Department of Cardiology, San Luigi Gonzaga University Hospital, Orbassano, Turin, Italy.

Acute heart failure (HF) is commonly caused by a cardiomyopathy with one or more precipitating factor. Here, a case in which a cardiomyopathy is precipitated by pulmonary embolism (PE). A 77-year-old man is admitted for breathlessness and leg swelling. Read More

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January 2021