819 results match your criteria Amyloidosis Transthyretin-Related


[18F]-Florbetaben PET/CT for Differential Diagnosis Among Cardiac Immunoglobulin Light Chain, Transthyretin Amyloidosis, and Mimicking Conditions.

JACC Cardiovasc Imaging 2020 Aug 3. Epub 2020 Aug 3.

Division of Cardiology and Cardiovascular Medicine, Fondazione Toscana Gabriele Monasterio, Pisa, Italy; Institute of Life Science, Scuola Sant'Anna Pisa, Pisa, Italy. Electronic address:

Objectives: This study aimed to test the diagnostic value of fludeoxyglucose F 18 ([18F])-florbetaben positron emission tomography (PET) in patients with suspicion of CA.

Background: Diagnosis of cardiac involvement in immunoglobulin light-chain-derived amyloidosis (AL) and transthyretin-related amyloidosis (ATTR), which holds major importance in risk stratification and decision making, is frequently delayed. Furthermore, although diphosphonate radiotracers allow a noninvasive diagnosis of ATTR, demonstration of cardiac amyloidosis (CA) in AL may require endomyocardial biopsy. Read More

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http://dx.doi.org/10.1016/j.jcmg.2020.05.031DOI Listing

Identifying Cardiac Amyloid in Aortic Stenosis: ECV Quantification by CT in TAVR Patients.

JACC Cardiovasc Imaging 2020 Aug 5. Epub 2020 Aug 5.

Barts Heart Centre, St. Bartholomew's Hospital, London, United Kingdom; William Harvey Research Institute, Queen Mary University of London, London, United Kingdom; NIHR Barts Biomedical Research Centre, London, United Kingdom. Electronic address:

Objectives: To validate computed tomography measured ECV (ECV) as part of routine evaluation for the detection of cardiac amyloid in patients with aortic stenosis (AS)-amyloid.

Background: AS-amyloid affects 1 in 7 elderly patients referred for transcatheter aortic valve replacement (TAVR). Bone scintigraphy with exclusion of a plasma cell dyscrasia can diagnose transthyretin-related cardiac amyloid noninvasively, for which novel treatments are emerging. Read More

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http://dx.doi.org/10.1016/j.jcmg.2020.05.029DOI Listing

Diagnosis and treatment of transthyretin-related amyloidosis cardiomyopathy.

Clin Cardiol 2020 Jul 29. Epub 2020 Jul 29.

Molecular Cardiology Research, Texas Heart Institute, Houston, Texas, USA.

Transthyretin-related amyloidosis (ATTR) is a subgroup of amyloidosis that results from extracellular misassembled and toxic amyloid deposits affecting multiple organ systems, and cardiac tissues in particular. Because ATTR often presents as heart failure with preserved ejection fraction (HFpEF), it has been largely underdiagnosed. Once considered incurable with a grave prognosis, ATTR cardiomyopathy has seen the development of promising alternatives for diagnosis and treatment, with early diagnosis and treatment of ATTR cardiomyopathy highly beneficial due to its high mortality rate. Read More

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http://dx.doi.org/10.1002/clc.23434DOI Listing

Quantitation of myocardial Tc-HMDP uptake with new SPECT/CT cadmium zinc telluride (CZT) camera in patients with transthyretin-related cardiac amyloidosis: Ready for clinical use?

J Nucl Cardiol 2020 Jul 26. Epub 2020 Jul 26.

Normandie Univ, UNICAEN, Signalisation, électrophysiologie et imagerie des lésions d'ischémie-reperfusion myocardique, FHU REMOD-VHF, Caen, France.

Background: The aim of this study was to investigate the feasibility of assessing absolute myocardial 99mTc-HMDP uptake in patients with suspected cardiac ATTR using SUV with a whole-body CZT SPECT-CT camera (DNM670CZT).

Methods: Fifteen patients with suspected cardiac ATTR (Perugini ≥ 2) underwent a conventional 99mTc-HMDP planar imaging and a thoracic SPECT/CT using a DNM 670CZT. A control group consisted of 15 patients with negative scintigraphy (Perugini < 2). Read More

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http://dx.doi.org/10.1007/s12350-020-02274-2DOI Listing

Overview of treatments used in transthyretin-related hereditary amyloidosis: a systematic review.

Eur J Hosp Pharm 2020 Jul 19;27(4):194-201. Epub 2019 Mar 19.

Pharmacy Department, Hospital Universitario Marques de Valdecilla, Santander, Spain.

Objective: To carry out a systematic review of the literature to analyse the efficacy and safety of treatments available or under investigation for amyloidosis due to mutations in the transthyretin gene (ATTR).

Methods: A bibliographic search was carried out in the following electronic databases up to September 2017: PubMed, Cochrane Library and EMBASE. The inclusion criteria were: efficacy and/or safety studies conducted in humans, studies that included treatments, including treatments in the research phase, and studies that included 10 or more patients. Read More

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http://dx.doi.org/10.1136/ejhpharm-2018-001823DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7335620PMC

DPD Quantification in Cardiac Amyloidosis: A Novel Imaging Biomarker.

JACC Cardiovasc Imaging 2020 Jun;13(6):1353-1363

Barts Heart Centre, St. Bartholomew's Hospital, London, United Kingdom; Institute of Nuclear Medicine, University College London, London, United Kingdom; NIHR University College London Hospitals Biomedical Research Centre, London, United Kingdom. Electronic address:

Objectives: To assess whether single-photon emission computed tomography (SPECT/CT) quantification of bone scintigraphy would improve diagnostic accuracy and offer a means of quantifying amyloid burden.

Background: Transthyretin-related cardiac amyloidosis is common and can be diagnosed noninvasively using bone scintigraphy; interpretation, however, relies on planar images. SPECT/CT imaging offers 3-dimensional visualization. Read More

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http://dx.doi.org/10.1016/j.jcmg.2020.03.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7264710PMC

The sensitivity of DPD scintigraphy to detect transthyretin cardiac amyloidosis in V30M mutation depends on the phenotypic expression of the disease.

Amyloid 2020 Sep 2;27(3):174-183. Epub 2020 Jun 2.

Cardiology Service, Heart and Vessels Department, Centro Hospitalar Universitário Lisboa Norte and Cardiovascular Centre at Universidade de Lisboa, Faculty of Medicine, Lisbon, Portugal.

There is a growing need for a non-invasive test to detect cardiac involvement in patients with transthyretin-related hereditary amyloidosis (ATTR) caused by V30M mutation. Tc-3,3-diphosphono-1,2-propanodicarboxylic acid (DPD) scintigraphy is a promising method, but its accuracy in this particular mutation remains unknown. A cohort of 179 patients: 92 with early-onset disease (EoD, symptoms <50-years-old), 33 with late-onset disease (LoD) and 54 asymptomatic carriers were prospectively evaluated and underwent DPD scintigraphy, which was compared with the results of echocardiogram, ambulatory blood pressure monitoring, 24 h-Holter, myocardial I-metaiodobenzylguanidine imaging and NT-proBNP. Read More

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http://dx.doi.org/10.1080/13506129.2020.1744553DOI Listing
September 2020
2.010 Impact Factor

[Research progress on the wild-type transthyretin amyloidosis].

Zhonghua Xin Xue Guan Bing Za Zhi 2020 Apr;48(4):271-275

Heart Failure Center, Fuwai Hospital, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, China.

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http://dx.doi.org/10.3760/cma.j.cn112148-20191025-00654DOI Listing

An unusual case of hereditary transthyretin-related amyloidosis and ulcerative colitis in a young Indian girl.

JGH Open 2020 Apr 10;4(2):289-291. Epub 2019 Jun 10.

Department of Paediatrics Postgraduate Institute of Medical Education and Research Chandigarh India.

Hereditary transthyretin (TTR) amyloidosis is a multisystem disorder caused by extracellular amyloid deposition, usually presenting with neurological and cardiovascular involvement. Gastrointestinal involvement, if present, is usually in the form of motility symptoms like diarrhea, constipation, or diarrhea alternating with constipation. Presentations mimicking ulcerative colitis without other system involvement are rare. Read More

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http://dx.doi.org/10.1002/jgh3.12206DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7144763PMC

Fecal calprotectin levels are elevated in transthyretin amyloidosis patients with gastrointestinal manifestations.

Medicine (Baltimore) 2020 Mar;99(11):e19509

Clinic of Nervous Diseases, Alexandrovska University Hospital, Medical University, Sofia, Bulgaria.

Transthyretin amyloid (ATTR) amyloidosis is a rare systemic disorder characterized by amyloid deposits formed by misfolded monomers of the transthyretin. Gastrointestinal (GI) manifestations are common in ATTR amyloidosis; however, their pathogenesis is not fully elucidated. In the present study, we aim to evaluate the diagnostic role of fecal calprotectin (FC) in ATTR amyloidosis patients with GI manifestations. Read More

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http://dx.doi.org/10.1097/MD.0000000000019509DOI Listing

Biomarkers and Prediction of Prognosis in Transthyretin-Related Cardiac Amyloidosis: Direct Comparison of Two Staging Systems.

Can J Cardiol 2020 Mar 30;36(3):424-431. Epub 2019 Dec 30.

Tuscan Regional Amyloidosis Centre, Careggi University Hospital, Florence, Italy.

Background: The severity of heart disease varies widely among patients with transthyretin-related cardiac amyloidosis (ATTR-CA) at presentation, and availability of tools able to predict prognosis is essential for clinical and research purposes. Currently, two biomarker-based staging systems are available. The aim of this study was to compare their predictive performance. Read More

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http://dx.doi.org/10.1016/j.cjca.2019.12.020DOI Listing

Small fiber neuropathy in Sjögren syndrome: Comparison with other small fiber neuropathies.

Muscle Nerve 2020 04 15;61(4):515-520. Epub 2020 Feb 15.

Department of Rheumatology; National Reference Center for Sjögren Syndrome and Rare Autoimmune Diseases, Université Paris-Saclay; Assistance Publique-Hôpitaux de Paris, Hôpitaux Universitaires Paris-Sud, AP-HP, Le Kremlin Bicêtre, France.

Introduction: We compared histological and clinical profiles of primary Sjögren syndrome (pSS) small fiber neuropathy (SFN; pSS-SFN) with idiopathic SFN (i-SFN) and hereditary transthyretin amyloidosis SFN (hATTR-SFN) and described the evolution of pSS-SFN.

Methods: All patients with pSS-SFN, i-SFN, and hATTR-SFN confirmed by reduced intraepidermal nerve fiber density on skin biopsy were retrospectively included, and their characteristics were compared. To analyze prognosis of pSS-SFN, patients prospectively underwent a second evaluation. Read More

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http://dx.doi.org/10.1002/mus.26824DOI Listing

[Treatment strategies of patients with transthyretin amyloidosis cardiomyopathy].

Authors:
Z Tian S Y Zhang

Zhonghua Xin Xue Guan Bing Za Zhi 2020 Jan;48(1):86-89

Department of Cardiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China.

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http://dx.doi.org/10.3760/cma.j.issn.0253-3758.2020.01.013DOI Listing
January 2020

Human amyloidosis, still intractable but becoming curable: The essential role of pathological diagnosis in the selection of type-specific therapeutics.

Pathol Int 2020 Apr 21;70(4):191-198. Epub 2020 Jan 21.

Department of Amyloidosis Research, Nagasaki International University, Nagasaki, Japan.

The molecular pathogenesis of human amyloidosis has been elucidated greatly during the last 20 years. Based on the understanding of the molecular mechanisms of amyloid fibril formation and deposition, various kinds of new drugs and therapeutics have been emerging to improve the prognosis of amyloidosis and even cure this disease. In this review article, we first summarize the pathogenesis and state-of-the-art therapeutics of representative types of systemic human amyloidosis, that is, immunoglobulin light chain-related, transthyretin-related, amyloid A-associated and β -microglobulin-related amyloidosis. Read More

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http://dx.doi.org/10.1111/pin.12902DOI Listing

Tafamidis: a selective transthyretin stabilizer to treat wild-type ATTR amyloidosis and hereditary ATTR amyloidosis with cardiomyopathy.

Authors:
D M Paton

Drugs Today (Barc) 2019 Dec;55(12):727-734

Professor Emeritus of Pharmacology, University of Auckland, Auckland, New Zealand; Professor Emeritus of Oral Biology, University of Alberta, Edmonton, Alberta, Canada.

Plasma protein transthyretin (TTR) can undergo conformational change resulting in the formation of amyloid fibrils that can then cause amyloidosis. This can occur spontaneously in individuals over the age of 70-80 resulting in wild-type transthyretin amyloidosis (ATTR) (with cardiomyopathy). This then progresses to fatal cardiac failure. Read More

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http://dx.doi.org/10.1358/dot.2019.55.12.3078389DOI Listing
December 2019

Recent advances in the treatment of chronic heart failure.

F1000Res 2019 20;8. Epub 2019 Dec 20.

Department of Pharmacy, Brigham and Women's Hospital, Boston, USA.

After more than a decade of relatively modest advancements, heart failure therapeutic development has accelerated, with the PARADIGM-HF trial and the SHIFT trial demonstrated significant reductions in cardiovascular death and heart failure hospitalization for sacubitril-valsartan and in heart failure hospitalization alone for ivabradine. Several heart failure therapies have since received or stand on the verge of market approval and promise substantive advances in the treatment of chronic heart failure. Some of these improve clinical outcomes, whereas others improve functional or patient-reported outcomes. Read More

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http://dx.doi.org/10.12688/f1000research.20447.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6944255PMC

Regression of Bone-Tracer Uptake in Cardiac Transthyretin Amyloidosis.

Mayo Clin Proc 2020 02 26;95(2):417-418. Epub 2019 Dec 26.

Department of Rheumatology and Clinical Immunology, Amyloidosis Center of Expertise, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

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http://dx.doi.org/10.1016/j.mayocp.2019.10.036DOI Listing
February 2020

Quantification of myocardial Tc-labeled bisphosphonate uptake with cadmium zinc telluride camera in patients with transthyretin-related cardiac amyloidosis.

EJNMMI Res 2019 Dec 23;9(1):117. Epub 2019 Dec 23.

Department of Nuclear Medicine, Toulouse University Hospital, Toulouse, France.

Purpose: We aimed to compare different methods for semi-quantitative analysis of cardiac retention of bone tracers in patients with cardiac transthyretin amyloidosis (ATTR).

Methods: Data from 67 patients with ATTR who underwent both conventional whole-body scan and a CZT myocardial SPECT (DSPECT, Spectrum Dynamics) 3 h after injection of Tc-labeled bone tracer were analyzed. Visual scoring of cardiac retention was performed on whole-body scan according to Perugini 4-point grading system from 0 (no uptake) to 3 (strong cardiac uptake with mild/absent bone uptake). Read More

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http://dx.doi.org/10.1186/s13550-019-0584-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6928186PMC
December 2019

Low Sensitivity of Bone Scintigraphy in Detecting Phe64Leu Mutation-Related Transthyretin Cardiac Amyloidosis.

JACC Cardiovasc Imaging 2020 Jun 18;13(6):1314-1321. Epub 2019 Dec 18.

Cardiology, Department of Experimental, Diagnostic and Specialty Medicine, Alma Mater University of Bologna, Bologna, Italy.

Objectives: The aim of this study was to assess the diagnostic accuracy of bone scintigraphy in a large multicenter cohort of patients with cardiac amyloidotic involvement and Phe64Leu transthyretin (TTR) mutation.

Background: Diagnostic accuracy of bone scintigraphy for transthyretin-related cardiac amyloidosis (TTR-CA) is considered extremely high, enabling this technique to be the noninvasive diagnostic standard for TTR-CA. Nevertheless, this approach has not been systematically validated across the entire spectrum of TTR mutations. Read More

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http://dx.doi.org/10.1016/j.jcmg.2019.10.015DOI Listing

Identification and typing of cardiac amyloidosis by noninvasive imaging: Two cases for two patterns.

J Nucl Cardiol 2020 Jun 16;27(3):915-920. Epub 2019 Dec 16.

Department of Advanced Biomedical Sciences, University Federico II, Via Pansini 5, 80131, Naples, Italy.

Cardiac amyloidosis is a restrictive infiltrative cardiomyopathy burdened by high mortality. The two more common forms are immunoglobulin light-chain amyloidosis and transthyretin-related amyloidosis with different prognoses and treatments. However, distinguishing between them is challenging. Read More

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http://dx.doi.org/10.1007/s12350-019-01982-8DOI Listing

Gastrointestinal Manifestations in Hereditary Transthyretin Amyloidosis associated with Glu89Gln Mutation.

J Gastrointestin Liver Dis 2019 Dec 9;28(4):421-426. Epub 2019 Dec 9.

Clinic of Nervous Diseases, Alexandrovska University Hospital, Medical University, Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.

Aims: In the current study we aimed to explore the prevalence of gastrointestinal (GI) manifestations in hereditary transthyretin amyloid (hATTR) amyloidosis associated with Glu89Gln mutation.

Methods: We recruited 78 patients with hATTR amyloidosis associated with Glu89Gln mutation. The diagnosis of hATTR was defined by a documented transthyretin mutation through DNA analysis. Read More

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http://dx.doi.org/10.15403/jgld-362DOI Listing
December 2019

LEFT ATRIAL FUNCTION AND VOLUME BY MAGNETIC RESONANCE IN PATIENTS WITH HEREDITARY AMYLOIDOSIS.

Rev Invest Clin 2019 ;71(6):387-392

Department of Radiology and Imaging, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, SSA, Mexico City.

Background: Left atrial (LA) enlargement is a reliable predictor of adverse cardiovascular events, and reduced atrial function is an independent risk factor for mortality in patients with amyloidosis. The objective of this study was to characterize the LA function in Mexican patients with a confirmed diagnosis of hereditary transthyretin amyloidosis (amyloid transthyretin [ATTR]).

Methods: All consecutive patients with diagnosis of hereditary ATTR who underwent a cardiac magnetic resonance study in the period from March 2016 to June 2017 were included in the study; the volumes and function of the left atrium were evaluated. Read More

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http://dx.doi.org/10.24875/RIC.19003103DOI Listing

Association of the V122I Hereditary Transthyretin Amyloidosis Genetic Variant With Heart Failure Among Individuals of African or Hispanic/Latino Ancestry.

JAMA 2019 12;322(22):2191-2202

The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, New York.

Importance: Hereditary transthyretin (TTR) amyloid cardiomyopathy (hATTR-CM) due to the TTR V122I variant is an autosomal-dominant disorder that causes heart failure in elderly individuals of African ancestry. The clinical associations of carrying the variant, its effect in other African ancestry populations including Hispanic/Latino individuals, and the rates of achieving a clinical diagnosis in carriers are unknown.

Objective: To assess the association between the TTR V122I variant and heart failure and identify rates of hATTR-CM diagnosis among carriers with heart failure. Read More

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http://dx.doi.org/10.1001/jama.2019.17935DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7081752PMC
December 2019
35.289 Impact Factor

Amyloid and the Heart.

Curr Cardiol Rep 2019 12 3;21(12):164. Epub 2019 Dec 3.

Heart Transplant Program, Cardiac Amyloidosis Program, 8536 Wilshire Blvd, 3rd floor, Beverly Hills, CA, 90211, USA.

Purpose Of Review: While morbidity and mortality remain high for amyloid cardiomyopathy (AC), increased awareness, earlier diagnosis, and advances in treatment have improved patient outcomes. This review will discuss the pathophysiology, contemporary diagnostic strategies, and novel and investigational therapeutic strategies for light-chain (AL) and transthyretin (ATTR) AC.

Recent Findings: Diagnostic strategies for AC now include cardiac magnetic resonance imaging and bone scintigraphy. Read More

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http://dx.doi.org/10.1007/s11886-019-1230-9DOI Listing
December 2019

Perspectives, issues and solutions in RNAi therapy: the expected and the less expected.

Authors:
Achim Aigner

Nanomedicine (Lond) 2019 11 22;14(21):2777-2782. Epub 2019 Nov 22.

Rudolf-Boehm-Institute for Pharmacology & Toxicology, Clinical Pharmacology, University of Leipzig, Faculty of Medicine, Leipzig, Germany.

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http://dx.doi.org/10.2217/nnm-2019-0321DOI Listing
November 2019

Cellular secretion and cytotoxicity of transthyretin mutant proteins underlie late-onset amyloidosis and neurodegeneration.

Cell Mol Life Sci 2020 Apr 14;77(7):1421-1434. Epub 2019 Nov 14.

Institute of Brain Science, School of Medicine, National Yang-Ming University, Taipei, Taiwan.

Transthyretin amyloidosis (ATTR) is a progressive life-threatening disease characterized by the deposition of transthyretin (TTR) amyloid fibrils. Several pathogenic variants have been shown to destabilize TTR tetramers, leading to aggregation of misfolded TTR fibrils. However, factors that underlie the differential age of disease onset amongst amyloidogenic TTR variants remain elusive. Read More

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http://dx.doi.org/10.1007/s00018-019-03357-1DOI Listing

Blood pressure and orthostatic hypotension as measures of autonomic dysfunction in patients from the transthyretin amyloidosis outcomes survey (THAOS).

Auton Neurosci 2019 12 23;222:102590. Epub 2019 Oct 23.

Pfizer Inc, NY, New York, USA.

Introduction: Autonomic dysfunction, an early symptom of transthyretin amyloidosis (ATTR amyloidosis), requires investigations not readily available in many clinics. Although monitoring of orthostatic hypotension (OH) will not be a substitute for more specialized tests, it can add important information about initiation of dysautonomia. The aim of this study was to investigate whether simple blood pressure (BP) monitoring may be a useful tool for evaluation of disease progression and an early sign of autonomic dysfunction. Read More

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http://dx.doi.org/10.1016/j.autneu.2019.102590DOI Listing
December 2019

Clinical characteristics and prognosis of Chinese patients with hereditary transthyretin amyloid cardiomyopathy.

Orphanet J Rare Dis 2019 11 12;14(1):251. Epub 2019 Nov 12.

Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, 100005, China.

Background: Hereditary transthyretin amyloid cardiomyopathy (ATTR-CM) is an increasingly recognized progressive cardiomyopathy with heterogenous clinical manifestations that lead to its misdiagnosis and poor prognosis. This study was performed to describe the clinical characteristics and natural history of Chinese patients to improve clinical awareness of this condition.

Methods: In this study, we retrospectively investigated 23 patients with a confirmed diagnosis of hereditary ATTR-CM in Peking Union Medical College hospital from From January 1, 2000 to December 31, 2018. Read More

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http://dx.doi.org/10.1186/s13023-019-1235-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6852775PMC
November 2019

Sporadic Cardiac Amyloidosis by Amyloidogenic Transthyretin V122I Variant.

Int Heart J 2019 Nov 31;60(6):1441-1443. Epub 2019 Oct 31.

Department of Cardiovascular Medicine, Fukushima Medical University.

Hereditary ATTR amyloid cardiomyopathy is defined as the intramyocardial deposition of amyloid fibrils derived from the mutation of transthyretin (TTR). A 51-year-old man was referred to our hospital for congestive heart failure. He and his family had no past history of heart diseases. Read More

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http://dx.doi.org/10.1536/ihj.19-134DOI Listing
November 2019

Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and wildtype transthyretin amyloidoses.

Hum Genet 2019 Dec 29;138(11-12):1331-1340. Epub 2019 Oct 29.

Department of Psychiatry, Yale University School of Medicine, West Haven, CT, USA.

Transthyretin (TTR) gene has a causal role in a hereditary form of amyloidosis (ATTRm) and is potentially involved in the risk of wild-type transthyretin amyloidosis (ATTRwt). To understand the genetics of ATTRm and ATTRwt, we conducted a phenome-wide association study of TTR gene in 361,194 participants of European descent testing coding and non-coding variants. Among the 382 clinically relevant phenotypes tested, TTR non-coding variants were associated with 26 phenotypic traits after multiple testing correction. Read More

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http://dx.doi.org/10.1007/s00439-019-02078-6DOI Listing
December 2019
1 Read

Severe hand pain as an extracardiac manifestation of transthyretin amyloidosis.

BMJ Case Rep 2019 Oct 23;12(10). Epub 2019 Oct 23.

Rheumatology, Montefiore Hospital and Medical Center, Bronx, New York, USA.

Transthyretin amyloidosis is a multisystemic disease caused by the aggregation of amyloid fibrils, resulting in high morbidity and mortality in the presence of cardiac involvement. Patients often experience vague symptoms that make amyloidosis difficult to diagnose. Differential diagnosis for hand pain in a patient with systemic amyloidosis is broad. Read More

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http://dx.doi.org/10.1136/bcr-2019-229677DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6827757PMC
October 2019

Neuropathy Associated with Systemic Amyloidosis.

Semin Neurol 2019 10 22;39(5):578-588. Epub 2019 Oct 22.

Amyloidosis Center, Boston Medical Center, Boston University, Boston, Massachusetts.

Peripheral neuropathy occurs in the setting of both hereditary and acquired amyloidosis. The most common form of hereditary amyloidosis is caused by 1 of 140 mutations in the transthyretin (TTR) gene, which can lead to neuropathic hereditary transthyretin amyloidosis (hATTR; previously referred to as transthyretin familial amyloid polyneuropathy), whereas acquired immunoglobulin light chain (AL) amyloidosis is the most common acquired form. Patients typically present with a sensorimotor polyneuropathy, focal neuropathy such as carpal tunnel syndrome, or autonomic neuropathy. Read More

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http://dx.doi.org/10.1055/s-0039-1688994DOI Listing
October 2019
1 Read

Expanding the spectrum of transthyretin amyloidosis.

Muscle Nerve 2020 01 6;61(1):3-4. Epub 2019 Nov 6.

Department of Neurology, Nagoya University Graduate School of Medicine, Nagoya, Japan.

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http://dx.doi.org/10.1002/mus.26741DOI Listing
January 2020

Patisiran's path to approval as an RNA therapy.

Nature 2019 10;574(7778):S7

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http://dx.doi.org/10.1038/d41586-019-03070-wDOI Listing
October 2019

[Current approaches for treatment of hereditary transthyretin amyloidosis (ATTR)].

Dtsch Med Wochenschr 2019 10 8;144(20):1438-1443. Epub 2019 Oct 8.

Medizinische Klinik B für Gastroenterologie und Hepatologie, Universitätsklinikum Münster.

Rare, progressive, and fatal is a short description for autosomal dominant hereditary transthyretin (TTR) amyloidosis (ATTR). In the absence of a family background, delays in diagnosis are common. ATTR is often represented by a progressive, axonal fiber-length-dependent polyneuropathy (motor, autonomic, sensory). Read More

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http://dx.doi.org/10.1055/a-0848-9610DOI Listing
October 2019

Beneficial Effect of Pimobendan for Severe Heart Failure Due to Transthyretin Cardiac Amyloidosis.

Intern Med 2020 Feb 7;59(3):339-343. Epub 2019 Oct 7.

Department of Cardiology and Geriatrics, Kochi Medical School, Kochi University, Japan.

Objective Transthyretin amyloidosis, particularly wild-type transthyretin amyloid cardiomyopathy (ATTRwt), has been recognized as an important cause of morbidity and mortality in the aging population. However, it is difficult to manage heart failure itself in patients with cardiac amyloidosis. Methods We herein report the management of heart failure in an elderly patient with severe heart failure due to ATTRwt. Read More

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http://dx.doi.org/10.2169/internalmedicine.3675-19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7028411PMC
February 2020

Transthyretin amyloidosis: Putting myopathy on the map.

Muscle Nerve 2020 01 21;61(1):95-100. Epub 2019 Oct 21.

Department of Neurology, Mayo Clinic, Rochester, Minnesota.

Introduction: Although peripheral neuropathy and cardiomyopathy are well-recognized manifestations of transthyretin (ATTR) amyloidosis, myopathy has been rarely reported.

Methods: In this study we reviewed our muscle biopsy database (January 1998 to June 2018) to identify patients with ATTR amyloid myopathy confirmed by molecular or proteomic analysis. Clinical and laboratory findings were reviewed. Read More

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http://dx.doi.org/10.1002/mus.26723DOI Listing
January 2020
1 Read

Plasma neurofilament light chain concentration is increased and correlates with the severity of neuropathy in hereditary transthyretin amyloidosis.

J Peripher Nerv Syst 2019 12 14;24(4):314-319. Epub 2019 Oct 14.

MRC Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.

Hereditary transthyretin amyloidosis (ATTRm) causes a disabling peripheral neuropathy as part of a multisystem disorder. The recent development of highly effective gene silencing therapies has highlighted the need for effective biomarkers of disease activity to guide the decision of when to start and stop treatment. In this study, we measured plasma neurofilament light chain (pNfL) concentration in 73 patients with ATTR and found that pNfL was significantly raised in ATTRm patients with peripheral neuropathy compared to healthy controls. Read More

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http://dx.doi.org/10.1111/jns.12350DOI Listing
December 2019

Hepatocyte-Targeted Delivery of siRNA Polyplex with PEG-Modified Lactosylated Dendrimer/Cyclodextrin Conjugates for Transthyretin-Related Amyloidosis Therapy.

Biol Pharm Bull 2019 ;42(10):1679-1688

Department of Physical Pharmaceutics, Graduate School of Pharmaceutical Sciences, Kumamoto University.

Targeted drug delivery system (DDS) is required for RNA interference (RNAi) therapy to increase the therapeutic effect and to reduce the adverse effect. Especially in transthyretin (TTR)-related amyloidosis, hepatocyte specific delivery is desired because TTR mainly expresses in hepatocyte. Herein, we report on a hepatocyte-specific small interfering RNA (siRNA) delivery system using polyethylene glycol (PEG)-modified lactosylated dendrimer (generation 3; G3) conjugates with α-cyclodextrin (PEG-LαCs (G3)) for TTR-related amyloidosis therapy, and investigated the in vitro and in vivo gene silencing effect of PEG-LαCs (G3)/siRNA polyplexes. Read More

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http://dx.doi.org/10.1248/bpb.b19-00278DOI Listing
February 2020
2 Reads

An evaluation of patisiran: a viable treatment option for transthyretin-related hereditary amyloidosis.

Expert Opin Pharmacother 2019 Dec 30;20(18):2223-2228. Epub 2019 Sep 30.

Amyloidosis Research and Treatment Center, Foundation IRCCS Policlinico San Matteo, Department of Molecular Medicine, University of Pavia, Pavia, Italy.

: Hereditary transthyretin-mediated amyloidosis (ATTRv; v for variant) is a rare, progressive, fatal multi-systemic disease, autosomal dominantly inherited with heterogeneous clinical phenotype caused by mutations in the gene. Mutations promoting proteolytic remodeling and tetramer dissociation result in fragmented and full-length TTR monomers that misfold, aggregate and deposit at multiple sites (mainly nerves and heart) causing peripheral neuropathy and/or cardiomyopathy.: The authors discuss patisiran, the first approved RNA interference-based therapeutic agent that suppresses the circulating levels of the amyloidogenic protein TTR both wild-type and mutant. Read More

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http://dx.doi.org/10.1080/14656566.2019.1671352DOI Listing
December 2019
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Natural history and long-term effects of variant protein reduction in non-V30M ATTR amyloidosis.

Neurology 2019 10 27;93(16):714-716. Epub 2019 Sep 27.

From the Department of Neurology (T.Y., M.U., T.N., T.O., M.O., Y.T., Y. Inoue, T.M., Y.M., K.T., Y.A.), Graduate School of Medical Sciences, Kumamoto University; Amyloidosis Medical Practice Center (T.Y.), Kumamoto University Hospital; Department of Morphological and Physiological Sciences (K.O., T.H.), Graduate School of Medical Sciences, Kumamoto University; and Department of Transplantation and Pediatric Surgery (Y. Inomata), Graduate School of Medical Sciences, Kumamoto University, Japan.

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http://dx.doi.org/10.1212/WNL.0000000000008320DOI Listing
October 2019

Transthyretin Cardiac Amyloidosis Due to Homozygous Val122Ile Mutation in a Caucasian Man.

Rev Esp Cardiol (Engl Ed) 2019 Dec 24;72(12):1086-1088. Epub 2019 Sep 24.

Servicio de Cardiología, Complejo Hospitalario Universitario Insular-Materno Infantil, Las Palmas de Gran Canaria, Spain.

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http://dx.doi.org/10.1016/j.rec.2019.06.007DOI Listing
December 2019

Prevalence of variants detected by whole-exome sequencing in hypertrophic cardiomyopathy.

Amyloid 2019 Dec 25;26(4):243-247. Epub 2019 Sep 25.

St. Bartholomew's Centre for Inherited Cardiovascular Disease, St Bartholomew's Hospital , London , UK.

A proportion of patients with hypertrophic cardiomyopathy (HCM) have a diagnosis of cardiac amyloidosis. Hereditary transthyretin amyloid cardiomyopathy (ATTRv-CM) is caused by mutations in the gene. Our aim was to study the prevalence of potentially amyloidogenic variants in a whole-exome sequencing (WES) study of a large HCM cohort. Read More

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http://dx.doi.org/10.1080/13506129.2019.1665996DOI Listing
December 2019
2 Reads

The Truth Is Unfolding About Transthyretin Cardiac Amyloidosis.

Circulation 2019 07 1;140(1):27-30. Epub 2019 Jul 1.

Clinical Cardiovascular Research Laboratory for the Elderly, Columbia University Medical Center, New York, NY (M.S.M.).

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http://dx.doi.org/10.1161/CIRCULATIONAHA.119.041015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6761830PMC

Quantitative Tc-DPD SPECT/CT in patients with suspected ATTR cardiac amyloidosis: Feasibility and correlation with visual scores.

J Nucl Cardiol 2019 Sep 19. Epub 2019 Sep 19.

Cardiology Department, University Hospital Basel, University of Basel, Basel, Switzerland.

Purpose: While a visual interpretation of Tc-DPD scintigraphy by means of Perugini score can provide a reliable diagnosis of transthyretin-related (ATTR) cardiac amyloidosis (CA), a quantitative approach is expected to play a major role in risk stratification and therapy evaluation. The aim of our study was to test the feasibility of a quantitative assessment and to correlate various parameters to Perugini score.

Methods: in this retrospective study, consecutive patients underwent a Tc-DPD whole-body bone scintigraphy and a SPECT/CT of the thorax. Read More

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http://dx.doi.org/10.1007/s12350-019-01893-8DOI Listing
September 2019
3 Reads

Estimating the fiscal impact of rare diseases using a public economic framework: a case study applied to hereditary transthyretin-mediated (hATTR) amyloidosis.

Orphanet J Rare Dis 2019 09 18;14(1):220. Epub 2019 Sep 18.

Department of Rheumatology & Clinical Immunology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

Background: A wide range of rare diseases can have fiscal impacts on government finances that extend beyond expected healthcare costs. Conditions preventing people from achieving national lifetime work averages will influence lifetime taxes paid and increase the likelihood of dependence on public income support. Consequently, interventions that influence projected lifetime work activity, morbidity and mortality can have positive and negative fiscal consequences for government. Read More

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http://dx.doi.org/10.1186/s13023-019-1199-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6751602PMC
September 2019

Cardiac manifestations and prognostic implications of hereditary transthyretin amyloidosis associated with transthyretin Ala97Ser.

J Formos Med Assoc 2020 Mar 11;119(3):693-700. Epub 2019 Sep 11.

Department of Neurology, National Taiwan University Hospital, Taiwan. Electronic address:

Background: The cardiac manifestations of late-onset hereditary transthyretin amyloidosis with p.A97S variant have not been extensively studied, and the prognostic factors remain unclear.

Methods: The clinical profile, echocardiography, and ECG of patients diagnosed with ATTR p. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09296646193048
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http://dx.doi.org/10.1016/j.jfma.2019.08.027DOI Listing
March 2020
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Transthyretin Amyloidosis with Gastrointestinal Manifestation: a Case Report.

J Gastrointestin Liver Dis 2019 Sep 1;28(3):359-361. Epub 2019 Sep 1.

Medical University of Sofia, Bulgaria; Clinic of Nervous Diseases, Alexandrovska University Hospital, Sofia, Bulgaria; Department of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria.

Transthyretin amyloidosis (ATTR) is a rare, progressive, life-threatening, hereditary disorder caused by mutations in the transthyretin gene. Due to the phenotypic heterogeneity, ATTR is difficult to recognize and it is often diagnosed very late. In ATTR gastrointestinal (GI) disorders play an important role in the patients' morbidity and mortality. Read More

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http://dx.doi.org/10.15403/JGLD-422DOI Listing
September 2019

Bone scintigraphy imaging of cardiac amyloidosis.

World J Nucl Med 2019 Jul-Sep;18(3):314-316

Department of Imaging and Diagnostic Radiology, Aga Khan University Hospital, Nairobi, Kenya.

Transthyretin-related cardiac amyloidosis (ATTR) amyloidosis is an aggressive, rapidly progressive, and fatal disease, for which several promising therapies are in development. This condition is frequently underdiagnosed because of the limited specificity of echocardiography and the traditional requirement for histological diagnosis. It is well known that technetium-labeled bone scan radiotracers can localize in the myocardial amyloid deposits, but the use of this imaging modality to differentiate between the two subtypes has only lately been revisited. Read More

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http://dx.doi.org/10.4103/wjnm.WJNM_9_19DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6714161PMC
September 2019
4 Reads

Association between hearing loss and hereditary ATTR amyloidosis.

Amyloid 2019 Dec 10;26(4):234-242. Epub 2019 Sep 10.

Department of Oto-Rhino-Laryngo Surgery, Centre Hospitalier Intercommunal de Créteil , Créteil , France.

Hereditary transthyretin (TTR) related amyloidosis (ATTRv) is a life-threatening condition, which can potentially affect all organs. The objective was to identify the hearing status of patients with cardiac ATTRv and describe their audiological pattern. Nineteen patients with confirmed diagnosis of ATTRv cardiac amyloidosis (CA) underwent otoscopy and audiological tests, including pure tone and speech audiometry. Read More

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http://dx.doi.org/10.1080/13506129.2019.1663814DOI Listing
December 2019
3 Reads