576 results match your criteria Amyloidosis Transthyretin-Related


Prognostic impact of light-chain and transthyretin-related categories in cardiac amyloidosis: a systematic review and meta-analysis.

Hellenic J Cardiol 2019 Feb 8. Epub 2019 Feb 8.

Department of Neurology, The First Affiliated Hospital of China Medical University, Shenyang, China. Electronic address:

Background: Light-chain amyloidosis and transthyretin-related amyloidosis (wild-type and mutated) are three main types of systemic amyloidosis associated with a clinically relevant cardiac involvement. In this study, we compared prognosis in patients with different categories of cardiac amyloidosis using meta-analysis and present a systematic review.

Methods: A systematic literature search was performed through Jan 1, 2018 and two reviewers independently extracted data and assessed risk of bias. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S11099666183054
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http://dx.doi.org/10.1016/j.hjc.2019.01.015DOI Listing
February 2019
7 Reads

Transthyretin Amyloid Fibril Disrupting Activities of Extracts and Fractions from Maxim. var. (Makino) Kitam.

Molecules 2019 Jan 30;24(3). Epub 2019 Jan 30.

Program for Leading Graduate Schools, Health Life Science: Interdisciplinary and Glocal Oriented (HIGO) Program, Kumamoto University, Kumamoto 862-0973, Japan.

Transthyretin-related amyloidosis is a slowly progressive disorder caused by deposition of insoluble amyloid plaques formed by fibrillization of mutant or defective transthyretin (TTR) monomers that leads to neurodegeneration and organ failure. Thus, any compound exhibiting TTR amyloid formation inhibitory activity or TTR amyloid fibril disrupting activity might be a potential candidate for the development of therapies for these disorders. Our aim in this study was the evaluation of the TTR amyloid fibril disrupting potential of extracts of leaves and immature fruits of two plants, i. Read More

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http://www.mdpi.com/1420-3049/24/3/500
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http://dx.doi.org/10.3390/molecules24030500DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6384717PMC
January 2019
8 Reads

Patisiran for the treatment of hereditary transthyretin-mediated amyloidosis.

Authors:
Junyi Yang

Expert Rev Clin Pharmacol 2019 Feb 18;12(2):95-99. Epub 2019 Jan 18.

a Department of Pharmaceutical , Central Hospital of Linyi City , Yishui , Shandong , China.

Introduction: Hereditary transthyretin-mediated amyloidosis is caused by a mutation in transthyretin (TTR) gene resulting in misfolded TTR protein accumulating as amyloid fibrils. Patisiran is a lipid nanoparticle formulation of ribonucleic acid interference (RNAi), which can reduce the production of TTR. Areas covered: In this review, the chemical property, mechanism of action, pharmacokinetics, clinical efficacy, and safety of patisiran were introduced. Read More

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http://dx.doi.org/10.1080/17512433.2019.1567326DOI Listing
February 2019
2 Reads

Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation.

J Cardiovasc Transl Res 2019 Jan 2. Epub 2019 Jan 2.

Cardiovascular Unit, Department of Internal Medicine, University of Genova and San Martino Hospital, Viale Benedetto XV, 6, 16132, Genoa, Italy.

Tyr78Phe is a rare pathogenic transthyretin (TTR) mutation. Few previous reports described a late-onset hereditary transthyretin-related amyloidosis (ATTR-m) form with a variable phenotype, mainly dominated by neurological manifestations. We describe the case of a 69-year-old male with massive but asymptomatic cardiac infiltration and only subclinical neurological involvement, and review the literature to depict characteristics of the Tyr78Phe TTR mutation. Read More

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http://link.springer.com/10.1007/s12265-018-9859-0
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http://dx.doi.org/10.1007/s12265-018-9859-0DOI Listing
January 2019
10 Reads

A rare variant of transthyretin-related amyloidosis associated with exclusive cardiomyopathy in a Hong Kong Chinese patient.

J Cardiol Cases 2018 Dec 22;18(6):185-188. Epub 2018 Oct 22.

Kowloon West Cluster Laboratory Genetic Service, Chemical Pathology Laboratory, Department of Pathology, Princess Margaret Hospital, Hong Kong, China.

Hereditary transthyretin-related amyloidosis (ATTR, MIM #105210), also previously known as familial amyloidotic polyneuropathy, is one of the most life-threatening types of amyloidosis. ATTR is inherited in autosomal dominant mode with variable penetrance. If untreated, it is a relentless and lethal disease. Read More

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http://dx.doi.org/10.1016/j.jccase.2018.07.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6306574PMC
December 2018
6 Reads

Recent Advances in Oligonucleotide-Based Therapy for Transthyretin Amyloidosis: Clinical Impact and Future Prospects.

Biol Pharm Bull 2018 ;41(12):1737-1744

Department of Pharmacy, Kumamoto University Hospital.

Transthyretin (TTR) amyloidosis, also known as transthyretin-related familial amyloidotic polyneuropathy (ATTR-FAP), is a fatal hereditary systemic amyloidosis caused by mutant forms of TTR. Although conventional treatments for ATTR-FAP, such as liver transplantation (LT) and TTR tetramer stabilizer, reportedly halt the progression of clinical manifestation, these therapies have several limitations. Oligonucleotide-based therapy, e. Read More

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http://dx.doi.org/10.1248/bpb.b18-00625DOI Listing
January 2018
2 Reads

An indirect treatment comparison of the efficacy of patisiran and tafamidis for the treatment of hereditary transthyretin-mediated amyloidosis with polyneuropathy.

Expert Opin Pharmacother 2019 Mar 12;20(4):473-481. Epub 2018 Dec 12.

e Department of Neurology , Johns Hopkins University , Baltimore , MD , USA.

Background: Hereditary transthyretin-mediated amyloidosis (hATTR amyloidosis) is a progressive, life-threatening disease. Until recently, tafamidis was the only approved pharmacotherapy. Patisiran significantly improved polyneuropathy and quality of life (QoL) in the phase III APOLLO trial. Read More

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http://dx.doi.org/10.1080/14656566.2018.1554648DOI Listing
March 2019
3 Reads

Origin of sporadic late-onset hereditary ATTR Val30Met amyloidosis in Japan.

Amyloid 2018 Sep;25(3):143-147

a Department of Neurology, Graduate School of Medical Sciences , Kumamoto University , Kumamoto , Japan.

Hereditary transthyretin (ATTRm) amyloidosis, formerly known as familial amyloid polyneuropathy, is a major type of hereditary systemic amyloidosis, in which the disease is caused by mutant transthyretin (TTR). Although more than 140 different point mutations have been identified in the TTR gene, ATTRm amyloidosis patients with the TTR Val30Met mutation are most frequently found worldwide. Interestingly, the onset age of the ATTR Val30Met amyloidosis is highly varied among countries and regions. Read More

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http://dx.doi.org/10.1080/13506129.2018.1531842DOI Listing
September 2018
4 Reads

Quantitation of Tc-DPD uptake in patients with transthyretin-related cardiac amyloidosis.

Amyloid 2018 Sep;25(3):203-210

a National Amyloidosis Centre , UCL Medical School (Royal Free Campus) , London , UK.

Purpose: Transthyretin (ATTR) amyloidosis is a rare but serious infiltrative disease associated with a wide spectrum of morphologic and functional cardiac involvement. Tc-labelled 3,3-diphosphono-1,2-propanodicarboxylic acid (DPD), initially developed as a bone-seeking radiotracer, is remarkably sensitive for imaging cardiac ATTR amyloid deposits. Our aim was to investigate the feasibility and utility of estimating Tc-DPD uptake in myocardial tissue; this has the potential to yield reliable quantitative information on cardiac amyloid burden, which is urgently required to monitor disease progression and response to novel treatments. Read More

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http://dx.doi.org/10.1080/13506129.2018.1520087DOI Listing
September 2018
2 Reads

Oligonucleotide Drugs for Transthyretin Amyloidosis.

N Engl J Med 2018 11;379(21):2086

Johns Hopkins Medicine, Baltimore, MD

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http://www.nejm.org/doi/10.1056/NEJMc1810994
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http://dx.doi.org/10.1056/NEJMc1810994DOI Listing
November 2018
12 Reads

Oligonucleotide Drugs for Transthyretin Amyloidosis.

N Engl J Med 2018 11;379(21):2085-6

Hospital de Santo António, Porto, Portugal

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http://www.nejm.org/doi/10.1056/NEJMc1810994
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http://dx.doi.org/10.1056/NEJMc1810994DOI Listing
November 2018
13 Reads

Monitoring treatment response to tafamidis by serial native T1 and extracellular volume in transthyretin amyloid cardiomyopathy.

ESC Heart Fail 2019 02 27;6(1):232-236. Epub 2018 Nov 27.

Department of Cardiovascular Medicine, National Cerebral and Cardiovascular Center, Osaka, Japan.

Tafamidis meglumine, a transthyretin (TTR) stabilizer, is effective in delaying the progression of neuropathy in TTR amyloidosis with Val30Met mutations. However, its efficacy in TTR amyloid cardiomyopathy is not fully elucidated. Herein, we report a 73-year-old Japanese man with a diagnosis of TTR amyloid cardiomyopathy with Val30Met mutation treated with tafamidis. Read More

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http://dx.doi.org/10.1002/ehf2.12382DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6352892PMC
February 2019
12 Reads

The identification of a transthyretin variant p.D38G in a Chinese family with early-onset leptomeningeal amyloidosis.

J Neurol 2019 Jan 23;266(1):232-241. Epub 2018 Nov 23.

Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, 138 Tongzipo Road, Changsha, Hunan, 410013, People's Republic of China.

Familial amyloid polyneuropathies (FAPs) are life-threatening, autosomal dominant diseases resulting, in most instances, from transthyretin gene (TTR) variants. A small number of TTR variants lead to leptomeningeal amyloidosis (LA), which is a rare FAP subtype with late-onset central nervous system (CNS) impairment symptoms. Previous studies suggest that LA's CNS selectivity was due to complete endoplasmic reticulum-associated degradation of highly destabilized mutants in peripheral tissues. Read More

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http://dx.doi.org/10.1007/s00415-018-9125-zDOI Listing
January 2019
14 Reads

Oligonucleotide Drugs for Transthyretin Amyloidosis.

Authors:
Joel N Buxbaum

N Engl J Med 2018 Nov;379(21):2086

Scripps Research Institute, La Jolla, CA

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http://www.nejm.org/doi/10.1056/NEJMc1810994
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http://dx.doi.org/10.1056/NEJMc1810994DOI Listing
November 2018
11 Reads

Familial amyloid polyneuropathy with chronic paroxysmal dry cough in Mainland China: A Chinese family with a proven heterozygous missense mutation c.349G>T in the transthyretin gene.

J Clin Neurosci 2019 Feb 22;60:164-166. Epub 2018 Oct 22.

Department of Neurology, Xiangya Hospital, Central South University, Changsha, China; National Clinical Research Center for Geriatric Disorders, Central South University, Changsha, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, China; Key Laboratory of Organ Injury, Aging and Regenerative Medicine of Hunan Province, Changsha, China. Electronic address:

Familial amyloid polyneuropathy (FAP) is a rare autosomal dominant disorder characterized by amyloid accumulation in the peripheral nerves and other organs, including the heart, kidney, and eyes. So far, no case with FAP from Mainland China was reported with a heterozygous missense mutation c.349G>T in the Transthyretin (TTR) gene. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09675868183142
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http://dx.doi.org/10.1016/j.jocn.2018.10.040DOI Listing
February 2019
15 Reads

Blood-based microRNA profiling in patients with cardiac amyloidosis.

PLoS One 2018 17;13(10):e0204235. Epub 2018 Oct 17.

Institute of Molecular and Translational Therapeutic Strategies (IMTTS), IFB-Tx, Hannover Medical School, Hannover, Germany.

Introduction: Amyloidosis is caused by dysregulation of protein folding resulting in systemic or organ specific amyloid aggregation. When affecting the heart, amyloidosis can cause severe heart failure, which is associated with a high morbidity and mortality. Different subtypes of cardiac amyloidosis exist e. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0204235PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6192556PMC
March 2019
14 Reads
3.234 Impact Factor

Hereditary transthyretin-related amyloidosis.

Acta Neurol Scand 2019 Feb 23;139(2):92-105. Epub 2018 Oct 23.

Ludwig Boltzmann Institute for Experimental und Clinical Traumatology, Vienna, Austria.

Hereditary transthyretin(TTR)-related amyloidosis (ATTRm amyloidosis) is an endemic/non-endemic, autosomal-dominant, early- and late-onset, rare, progressive disorder, predominantly manifesting as length-dependent, small fiber dominant, axonal polyneuropathy and frequently associated with cardiac disorders and other multisystem diseases. ATTRm amyloidosis is due to variants in the TTR gene, with the substitution Val30Met as the most frequent mutation. TTR mutations lead to destabilization and dissociation of TTR tetramers into variant TTR monomers, and formation of amyloid fibrils, which are consecutively deposited extracellularly in various tissues, such as nerves, heart, brain, eyes, intestines, kidneys, or the skin. Read More

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http://doi.wiley.com/10.1111/ane.13035
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http://dx.doi.org/10.1111/ane.13035DOI Listing
February 2019
20 Reads

Non-Val30Met mutation, septal hypertrophy, and cardiac denervation in patients with mutant transthyretin amyloidosis.

ESC Heart Fail 2019 02 4;6(1):122-130. Epub 2018 Oct 4.

Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.

Aims: Mutant transthyretin (ATTRm) amyloidosis is a systemic disease caused by the deposition of amyloid fibrils derived from mutated transthyretin. Although cardiac involvement impacts the prognosis of patients with ATTRm amyloidosis, the incidence of cardiac events, such as bradyarrhythmia, ventricular tachycardia, and heart failure, has not been fully elucidated. The aim of this study was to evaluate the prognosis and predictors of clinical outcomes, including cardiac events, in patients with ATTRm amyloidosis in Japan. Read More

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http://doi.wiley.com/10.1002/ehf2.12361
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http://dx.doi.org/10.1002/ehf2.12361DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6352919PMC
February 2019
7 Reads

Non-parametric estimation of survival in age-dependent genetic disease and application to the transthyretin-related hereditary amyloidosis.

PLoS One 2018 25;13(9):e0203860. Epub 2018 Sep 25.

Institute of Mathematics (INSMI), National Center for French Research (CNRS), Paris, France.

In genetic diseases with variable age of onset, survival function estimation for the mutation carriers as well as estimation of the modifying factors effects are essential to provide individual risk assessment, both for mutation carriers management and prevention strategies. In practice, this survival function is classically estimated from pedigrees data where most genotypes are unobserved. In this article, we present a unifying Expectation-Maximization (EM) framework combining probabilistic computations in Bayesian networks with standard statistical survival procedures in order to provide mutation carrier survival estimates. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0203860PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6155453PMC
September 2018
15 Reads

Perforating palmar disease in TTR-related familial amyloid polyneuropathy.

Arq Neuropsiquiatr 2018 08;76(8):569

Universidade Federal de São Paulo, Departamento de Neurologia e Neurocirurgia, Divisão de Doenças Neuromusculares, São Paulo SP, Brasil.

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http://dx.doi.org/10.1590/0004-282X20180066DOI Listing
August 2018
1 Read

Insight into the specificity and severity of pathogenic mechanisms associated with missense mutations through experimental and structural perturbation analyses.

Hum Mol Genet 2019 Jan;28(1):1-15

Department of Physical Chemistry, University of Granada, Granada, Spain.

Most pathogenic missense mutations cause specific molecular phenotypes through protein destabilization. However, how protein destabilization is manifested as a given molecular phenotype is not well understood. We develop here a structural and energetic approach to describe mutational effects on specific traits such as function, regulation, stability, subcellular targeting or aggregation propensity. Read More

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http://dx.doi.org/10.1093/hmg/ddy323DOI Listing
January 2019
8 Reads

Evaluation of Syncope Reveals Cardiac Amyloidosis.

Kans J Med 2018 Aug 30;11(3):78-79. Epub 2018 Aug 30.

Department of Internal Medicine, University of Kansas Medical Center, Kansas City, KS.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6122881PMC
August 2018
5 Reads

[The Changing Appearance of Cardiac Amyloidosis].

Dtsch Med Wochenschr 2018 09 10;143(18):1335-1343. Epub 2018 Sep 10.

A fast and reliable diagnosis of cardiac amyloidosis requires a significant amount of clinical awareness. It is especially important to come to an early diagnosis in patients with cardiac AL amyloidosis in order to improve the otherwise unfavourable clinical course in these patients. There is a significant increase in the number of patients with cardiac amyloidosis of the ATTR wild-type variety. Read More

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http://dx.doi.org/10.1055/s-0043-109420DOI Listing
September 2018
2 Reads
0.550 Impact Factor

Right ventricular involvement in transthyretin amyloidosis.

Amyloid 2018 Sep 7;25(3):160-166. Epub 2018 Sep 7.

a Department of Clinical Physiology , Heart Centre, Umeå University , Umeå , Sweden.

Background: The extent of right ventricular (RV) involvement in transthyretin amyloidosis (ATTR) is unknown.

Objectives: This study sought to establish the degree of RV involvement in ATTR amyloidosis, and compare findings with RV involvement in hypertrophic cardiomyopathy (HCM).

Methods: Forty-two patients with ATTR amyloidosis and echocardiographic evidence of cardiac amyloidosis (cardiac ATTR), 19 ATTR patients with normal left ventricular (LV) wall thickness (non-cardiac ATTR), 25 patients with diagnosed HCM and 30 healthy controls were included in this study. Read More

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http://dx.doi.org/10.1080/13506129.2018.1493989DOI Listing
September 2018
3 Reads

Seven factors predict a delayed diagnosis of cardiac amyloidosis.

Amyloid 2018 Sep 31;25(3):174-179. Epub 2018 Aug 31.

a Division of Cardiovascular Pathology, Department of Pathology , Johns Hopkins University , Baltimore , MD , USA.

Introduction: Diagnostic delay of cardiac amyloidosis (CAm) continues to challenge clinicians. We investigated features associated with delay and ascertained if a diagnostic delay had negative implications for the patient.

Methods: We performed a retrospective chart review identifying 82 subjects with biopsy-proven and mass-spectrometry-identified CAm with clinical and epidemiologic data including first potential symptom of amyloidosis. Read More

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http://dx.doi.org/10.1080/13506129.2018.1498782DOI Listing
September 2018
4 Reads
2.010 Impact Factor

Hereditary transthyretin amyloidosis: baseline characteristics of patients in the NEURO-TTR trial.

Amyloid 2018 Sep 31;25(3):180-188. Epub 2018 Aug 31.

m Division of Hematology, Mayo Clinic , Rochester , Minnesota , USA.

Background: Hereditary transthyretin (ATTRm) amyloidosis is a rare, progressive and fatal disease with a range of clinical manifestations.

Objective: This study comprehensively evaluates disease characteristics in a large, diverse cohort of patients with ATTRm amyloidosis.

Methods: Adult patients (N = 172) with Stage 1 or Stage 2 ATTRm amyloidosis who had polyneuropathy were screened and enrolled across 24 investigative sites and 10 countries in the NEURO-TTR trial ( www. Read More

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http://dx.doi.org/10.1080/13506129.2018.1503593DOI Listing
September 2018
6 Reads

Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy.

N Engl J Med 2018 Sep 27;379(11):1007-1016. Epub 2018 Aug 27.

From the Columbia University Vagelos College of Physicians and Surgeons (M.S.M.) and Pfizer (J.H.S., A.I.B., P.H., J.S., M.B.S.), New York; Syneos Health, Raleigh, NC (B.G.); University College London and St. Bartholomew's Hospital, London (P.M.E.); the Amyloidosis Center, Istituto di Ricovero e Cura a Carattere Scientifico Policlinico San Matteo, and the University of Pavia, Pavia (G.M.), and the Department of Experimental, Diagnostic, and Specialty Medicine, University of Bologna, Bologna (C.R.) - both in Italy; the Amyloidosis Center (CEPARM), Federal University of Rio de Janeiro, Rio de Janeiro (M.W-C.); the Amyloidosis Center, Medical University of Heidelberg, Heidelberg, Germany (A.V.K.); the Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN (M.G.); Stanford University School of Medicine, Stanford, CA (R.W.); the French Referral Center for Cardiac Amyloidosis, Amyloidosis Mondor Network, GRC Amyloid Research Institute and Department of Cardiology, Assistance Publique-Hôpitaux de Paris, CHU Henri Mondor, and INSERM Unité 955, Clinical Investigation Center 006, and DHU ATVB, Creteil, France (T.D.); Penn Presbyterian Medical Center, University of Pennsylvania Health System, Philadelphia (B.M.D.); the Division of Cardiology, Department of Medicine, Northwestern University Feinberg School of Medicine, Chicago (S.J.S.); Cleveland Clinic, Cleveland (M.H.); the Medical University of South Carolina, Charleston (D.P.J.); and Pfizer, Groton, CT (T.A.P., S.R., M.S.).

Background: Transthyretin amyloid cardiomyopathy is caused by the deposition of transthyretin amyloid fibrils in the myocardium. The deposition occurs when wild-type or variant transthyretin becomes unstable and misfolds. Tafamidis binds to transthyretin, preventing tetramer dissociation and amyloidogenesis. Read More

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http://www.nejm.org/doi/10.1056/NEJMoa1805689
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http://dx.doi.org/10.1056/NEJMoa1805689DOI Listing
September 2018
17 Reads

Myocardial native T2 measurement to differentiate light-chain and transthyretin cardiac amyloidosis and assess prognosis.

J Cardiovasc Magn Reson 2018 08 16;20(1):58. Epub 2018 Aug 16.

Radiology Department, Henri Mondor Hospital, University Paris Est Créteil, Assistance Publique-Hôpitaux de Paris, 51 av Mal de Lattre de Tassigny, 94000, Créteil, France.

Background: To assess the diagnostic and prognosis value of myocardial native T2 measurement in the distinction between Light-chain (AL) and Transthyretin (ATTR) cardiac amyloidosis (CA).

Methods: Forty-four patients with CA (24 AL; 20 ATTR) and 40 healthy subjects underwent 1.5 T cardiovascular magnetic resonance (CMR). Read More

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http://dx.doi.org/10.1186/s12968-018-0478-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6097442PMC
August 2018
9 Reads

Technetium-99m pyrophosphate cardiac SPECT in endomyocardial biopsy negative cardiac amyloidosis.

Radiol Case Rep 2018 Oct 19;13(5):925-928. Epub 2018 Jul 19.

Department of Radiology, Eastern Virginia Medical School, 600 Gresham Drive, Norfolk, VA 23507, USA.

Cardiac amyloidosis is an under-appreciated cause of heart failure. Establishing a diagnosis is important because traditional heart failure treatment regimens can worsen left ventricular failure in this disease. Endomyocardial biopsy is the gold standard for diagnosis; however, scintigraphy with radiolabeled phosphate derivatives and cardiac magnetic resonance imaging have been shown to have high sensitivity and specificity in diagnosing cardiac amyloidosis. Read More

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http://dx.doi.org/10.1016/j.radcr.2018.06.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6073076PMC
October 2018
25 Reads

Progression of transthyretin (TTR) amyloidosis in donors and recipients after domino liver transplantation-a prospective single-center cohort study.

Transpl Int 2018 11 28;31(11):1207-1215. Epub 2018 Aug 28.

I. Department of Internal Medicine, University Medical Center, Johannes Gutenberg-University Mainz, Mainz, Germany.

Liver transplantation (LT) is the first-line therapy in patients with transthyretin (TTR) amyloidosis and progressive familial amyloid polyneuropathy (FAP). Explanted organs from these patients can be used for domino liver transplantation (DLT). After DLT, de novo amyloidosis may develop in domino recipients (DR). Read More

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http://dx.doi.org/10.1111/tri.13326DOI Listing
November 2018
24 Reads

Phenotypic profile of Ile68Leu transthyretin amyloidosis: an underdiagnosed cause of heart failure.

Eur J Heart Fail 2018 10 2;20(10):1417-1425. Epub 2018 Aug 2.

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

Aims: Cardiac amyloidosis remains a great challenge for the cardiologist. One of the three main aetiological forms, transthyretin-related hereditary amyloidosis (ATTRm), can present with several phenotypes, depending mainly on the specific mutation. We aimed to characterize the phenotype of patients with ATTRm due to Ile68Leu mutation, comparing them to patients with wild-type transthyretin amyloidosis (ATTRwt). Read More

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http://dx.doi.org/10.1002/ejhf.1285DOI Listing
October 2018
12 Reads

Revisiting transthyretin related cardiac amyloidosis: Case report and review of literature.

Clin Pract 2018 Mar 16;8(2):1054. Epub 2018 May 16.

Department of Medicine-Division of Cardiology, Drexel University College of Medicine-Hahnemann University Hospital, Philadelphia, PA, USA.

Amyloidosis is a complex group of disorders that can involve many organs and cause their dysfunction. Cardiac involvement indicates worse prognosis and influences treatment strategies. Cardiac amyloidosis is an under-diagnosed entity and high index of clinical suspicion and careful interpretation of basic diagnostic tools such as electrocardiogram and echocardiography is needed for early detection. Read More

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http://dx.doi.org/10.4081/cp.2018.1054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6047478PMC
March 2018
20 Reads

A case of transthyretin amyloidosis with myopathy, neuropathy, and cardiomyopathy resulting from an exceedingly rare mutation transthyretin Ala120Ser (c.418G > T, p.Ala140Ser).

Amyloid 2018 09 24;25(3):211-212. Epub 2018 Jul 24.

f Department of Cardiology , Montefiore Medical Center, Albert Einstein College of Medicine , Bronx , NY , USA.

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http://dx.doi.org/10.1080/13506129.2018.1491398DOI Listing
September 2018
4 Reads

[What gnaws at the heart and gets on the nerves].

Authors:
Arnt V Kristen

Internist (Berl) 2018 Nov;59(11):1208-1213

Zentrum für Innere Medizin, Klinik für Kardiologie, Angiologie und Pneumologie, Universitätsklinik Heidelberg, Im Neuenheimer Feld 410, 69120, Heidelberg, Deutschland.

Transthyretin is a transport protein for thyroxine and retinol-binding protein, which is mainly produced in the liver. Hereditary transthyretin-related amyloidosis (ATTR) is caused by one of more than 120 point mutations in the transthyretin gene and inherited as an autosomal dominant disorder. The mutations cause a reduction in the stability of the tetrameric structure and dissociation into dimers and monomers as the rate-limiting step in amyloid formation is promoted. Read More

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http://link.springer.com/10.1007/s00108-018-0470-x
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http://dx.doi.org/10.1007/s00108-018-0470-xDOI Listing
November 2018
14 Reads

A library of ATTR amyloidosis patient-specific induced pluripotent stem cells for disease modelling and in vitro testing of novel therapeutics.

Amyloid 2018 Sep 21;25(3):148-155. Epub 2018 Jul 21.

a Center for Regenerative Medicine , Boston University School of Medicine , Boston , MA , USA.

Hereditary transthyretin amyloidosis (ATTR amyloidosis) is an autosomal dominant protein-folding disorder caused by over 100 distinct mutations in the transthyretin (TTR) gene. In ATTR amyloidosis, protein secreted from the liver aggregates and forms amyloid fibrils in downstream target organs, chiefly the heart and peripheral nervous system. Few animal models of ATTR amyloidosis exist and none recapitulate the multisystem complexity and clinical variability associated with disease pathogenesis in patients. Read More

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https://www.tandfonline.com/doi/full/10.1080/13506129.2018.1
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http://dx.doi.org/10.1080/13506129.2018.1489228DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6319917PMC
September 2018
17 Reads

Family dynamics in transthyretin-related familial amyloid polyneuropathy Val30Met: Does genetic risk affect family functioning?

Clin Genet 2018 Nov 14;94(5):401-408. Epub 2018 Aug 14.

Serviço de Psiquiatria e Saúde Mental, Centro Hospitalar do Porto, Porto, Portugal.

Adult-onset, chronic, genetic diseases like transthyretin-related familial amyloid polyneuropathy Val30Met (TTR-FAP Val30Met), have a major psychosocial impact not only on patients, but also on families. Genetic risk may therefore be an increased factor in psychosocial impact of the disease on these families' functioning. To evaluate impact of genetic risk, a study was conducted to perceive the impact of the illness on families' functioning. Read More

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http://dx.doi.org/10.1111/cge.13416DOI Listing
November 2018
24 Reads

Cerebrospinal fluid and vitreous body exposure to orally administered tafamidis in hereditary ATTRV30M (p.TTRV50M) amyloidosis patients.

Amyloid 2018 Jun 11;25(2):120-128. Epub 2018 Jul 11.

a Departments of Chemistry and Molecular Medicine , The Scripps Research Institute , La Jolla , CA , USA.

Hereditary transthyretin (TTR) amyloidosis associated with the TTRV30M (p.TTRV50M) mutation presents predominantly as an axonal polyneuropathy, with variable involvement of other organs. Serious central nervous system (CNS) and eye manifestations, including stroke, dementia, vitreous opacities and glaucoma, have been reported in untreated V30M TTR amyloidosis patients, and in these patients after treatment with liver transplantation (LT). Read More

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http://dx.doi.org/10.1080/13506129.2018.1479249DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6177313PMC
June 2018
4 Reads

Widespread Cardiac and Vasomotor Autonomic Dysfunction in Non-Val30Met Hereditary Transthyretin Amyloidosis.

Intern Med 2018 Dec 6;57(23):3365-3370. Epub 2018 Jul 6.

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

Objective The autonomic functions of hereditary transthyretin (ATTRm) amyloidosis, traditionally referred to as familial amyloid polyneuropathy, have primarily been investigated in patients with Val30Met mutations, and information regarding non-Val30Met patients is scarce. The aim of this study was to systematically investigate the cardiac and peripheral vasomotor autonomic functions in non-Val30Met patients. Methods The coefficient of variation of R-R intervals (CVR-R), responses to the Valsalva manoeuvre, head-up tilt test results, noradrenaline infusion test results, and the (123) I-metaiodobenzylguanidine (MIBG) uptake on myocardial scintigraphy were assessed in five patients. Read More

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http://dx.doi.org/10.2169/internalmedicine.1113-18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6306549PMC
December 2018
2 Reads

Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis.

N Engl J Med 2018 Jul;379(1):22-31

From the Indiana University School of Medicine, Indianapolis (M.D.B.); Centro de Estudos em Paramiloidose Antônio Rodrigues de Mello, National Amyloidosis Referral Center, University Hospital, Federal University of Rio de Janeiro, Rio de Janeiro (M.W.-C.); Amyloidosis Center, Boston University School of Medicine (J.L.B.) and Brigham and Women's Hospital, Harvard Medical School (A.M.S., S.D.S.), Boston; Johns Hopkins University, Baltimore (M.P.); Mayo Clinic, Rochester, MN (P.J.D., W.J.L., M.A.G.); University of California, Irvine, Irvine (A.K.W.); Amyloid Network-Hospital Henri Mondor-Assistance Publique-Hôpitaux de Paris (AP-HP)-Université Paris Est, Créteil, France (V.P.-B.); Institute for Neurologic Research Raúl Carrea, FLENI, Buenos Aires (F.A.B.); Amyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo, University of Pavia, Pavia (G.M., L.O.), and Unit of Neurology, University Hospital, Messina (G.V.) - both in Italy; Hospital AACD (Associação de Assistência à Criança Deficiente), São Paulo (M.S.); Columbia University Medical Center (T.H.B.) and Mount Sinai Medical Center (P.D.G.), New York; University College London-National Amyloidosis Centre, London (C.W.); Penn Presbyterian Medical Center, University of Pennsylvania Health System, Philadelphia (B.M.D.); Centre Hospitaliere Universitaire Bicêtre, AP-HP, Unité 1195, INSERM, Université Paris-Sud, Paris (D.A.); Oregon Health and Science University, Portland (S.B.H.); Centro Hospitalar Lisboa Norte-Hospital de Santa Maria, Lisbon (I.C.), and Centro Hospitalar do Porto, Porto (T.C.) - both in Portugal; Universitätsklinikum Münster, Münster, Germany (H.H.S.); Hospital Clínic, Universitat de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer (J.M.C.), and Hospital Universitari Vall d'Hebron (J.G.), Barcelona; Auckland City Hospital, Auckland, New Zealand (E.G.); and Ionis Pharmaceuticals, Carlsbad, CA (B.P.M., S.G.H., T.J.K., B.W.M., S.W.J., B.F.B., E.J.A.).

Background: Hereditary transthyretin amyloidosis is caused by pathogenic single-nucleotide variants in the gene encoding transthyretin ( TTR) that induce transthyretin misfolding and systemic deposition of amyloid. Progressive amyloid accumulation leads to multiorgan dysfunction and death. Inotersen, a 2'- O-methoxyethyl-modified antisense oligonucleotide, inhibits hepatic production of transthyretin. Read More

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http://dx.doi.org/10.1056/NEJMoa1716793DOI Listing
July 2018
44 Reads

Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis.

N Engl J Med 2018 07;379(1):11-21

From Assistance Publique-Hôpitaux de Paris (APHP), National Reference Center for Familial Amyloidotic Polyneuropathy, Centre Hospitalier Universitaire (CHU) Bicêtre, INSERM Unité 1195, Université Paris-Sud, Le Kremlin-Bicêtre (D.A.), the Department of Neuromuscular Disorders and ALS, Hôpital de la Timone, Marseille (S.A.), and the Department of Neurology, Amyloid Network, CHU Henri Mondor-APHP, Créteil (V.P.-B.) - all in France; the National Institute of Medical Sciences and Nutrition-Salvador Zubiran, Mexico City (A.G.-D.); the Department of Clinical Research, eStudySite, San Diego, CA (W.D.O.); the Department of Neurology, National Taiwan University Hospital (C.-C.Y.), and the Department of Neurology, Taipei Veterans General Hospital (K.-P.L.), Taipei, Taiwan; Kumamoto University Hospital, Kumamoto (M.U.), and the Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine, Matsumoto (Y.S.) - both in Japan; the Department of Cardiology, University of Heidelberg, Heidelberg (A.V.K.), and Medizinische Klinik B für Gastroenterologie und Hepatologie, Universitätsklinikum Münster, Münster (H.H.S.) - both in Germany; University Multiprofile Hospital for Active Treatment, Sofia, Bulgaria (I.T.); Hospital de Santo António, Centro Hospitalar do Porto, Porto, Portugal (T.C.); the Amyloidosis Center, Department of Medicine, Boston Medical Center (J.L.B.), and Harvard Medical School (S.D.S.), Boston; the Department of Clinical and Experimental Medicine, University Hospital of Messina, Messina, Italy (G.V.); the Departments of Neurology and Medicine, Vancouver General Hospital, Vancouver, BC, Canada (M.M.M.); the Department of Nephrology, Hospital Clinic, Barcelona (J.M.C.), and the Balearic Islands Health Research Institute and Hospital Son Llatzer, Palma de Mallorca (J.B.) - all in Spain; the Department of Neurology, Columbia University, College of Physicians and Surgeons, New York (T.H.B.); Samsung Medical Center, Sungkyunkwan University School of Medicine (B.J.K.), and the the Department of Neurology, Konkuk University Medical Center (J.O.), Seoul, South Korea; the Department of Neurology, Istanbul University, Istanbul, Turkey (Y.P.); the Division of Medicine, University College London, London (P.N.H.); Johns Hopkins Bayview Medical Center, Baltimore (M.P.); the Department of Neurology, Mayo Clinic, Rochester, MN (P.J.D.); Alnylam Pharmaceuticals, Cambridge, MA (P.J.G., S.G., J.C., A.L.S., S.V.N., M.T.S., P.P.G., A.K.V., J.A.G.); and the Department of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden (O.B.S.).

Background: Patisiran, an investigational RNA interference therapeutic agent, specifically inhibits hepatic synthesis of transthyretin.

Methods: In this phase 3 trial, we randomly assigned patients with hereditary transthyretin amyloidosis with polyneuropathy, in a 2:1 ratio, to receive intravenous patisiran (0.3 mg per kilogram of body weight) or placebo once every 3 weeks. Read More

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http://www.nejm.org/doi/10.1056/NEJMoa1716153
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http://dx.doi.org/10.1056/NEJMoa1716153DOI Listing
July 2018
35 Reads

Oligonucleotide Drugs for Transthyretin Amyloidosis.

Authors:
Joel N Buxbaum

N Engl J Med 2018 07;379(1):82-85

From the Scripps Research Institute, La Jolla, CA.

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http://dx.doi.org/10.1056/NEJMe1805499DOI Listing
July 2018
9 Reads

Amyloid seeding of transthyretin by ex vivo cardiac fibrils and its inhibition.

Proc Natl Acad Sci U S A 2018 07 28;115(29):E6741-E6750. Epub 2018 Jun 28.

Howard Hughes Medical Institute, University of California, Los Angeles, CA 90095;

Each of the 30 human amyloid diseases is associated with the aggregation of a particular precursor protein into amyloid fibrils. In transthyretin amyloidosis (ATTR), mutant or wild-type forms of the serum carrier protein transthyretin (TTR), synthesized and secreted by the liver, convert to amyloid fibrils deposited in the heart and other organs. The current standard of care for hereditary ATTR is liver transplantation, which replaces the mutant gene with the wild-type gene. Read More

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http://dx.doi.org/10.1073/pnas.1805131115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055172PMC
July 2018
15 Reads

Unusual duplication mutation in a surface loop of human transthyretin leads to an aggressive drug-resistant amyloid disease.

Proc Natl Acad Sci U S A 2018 07 25;115(28):E6428-E6436. Epub 2018 Jun 25.

Amyloidosis Center, Boston University School of Medicine, Boston, MA 02118;

Transthyretin (TTR) is a globular tetrameric transport protein in plasma. Nearly 140 single amino acid substitutions in TTR cause life-threatening amyloid disease. We report a one-of-a-kind pathological variant featuring a Glu51, Ser52 duplication mutation (Glu51_Ser52dup). Read More

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http://dx.doi.org/10.1073/pnas.1802977115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6048550PMC
July 2018
28 Reads

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis.

J Vis Exp 2018 06 9(136). Epub 2018 Jun 9.

Department of Neurology, Chang Gung Memorial Hospital Linkou Medical Center and Chang Gung University College of Medicine;

Genetic testing is the most reliable test for hereditary transthyretin related amyloidosis and should be performed in most cases of transthyretin amyloidosis (ATTR). ATTR is a rare but fatal disease with heterogeneous phenotypes; therefore, the diagnosis is sometimes delayed. With increasing attention and broader recognition on early manifestations of ATTR as well as emerging treatments, appropriate diagnostic studies, including the transthyretin (TTR) genetic test, to confirm the types and variants of ATTR are therefore fundamental to improve the prognosis. Read More

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http://dx.doi.org/10.3791/57743DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6101697PMC
June 2018
3 Reads

Features of atrial fibrillation in wild-type transthyretin cardiac amyloidosis: a systematic review and clinical experience.

ESC Heart Fail 2018 10 19;5(5):772-779. Epub 2018 Jun 19.

Amyloidosis Center, Boston University School of Medicine, Boston Medical Center, Boston, MA, USA.

Aims: Wild-type transthyretin (ATTRwt) cardiac amyloidosis has emerged as an important cause of heart failure in the elderly. Atrial fibrillation (AF) commonly affects older adults with heart failure and is associated with reduced survival, but its role in ATTRwt is unclear. We sought to explore the clinical impact of AF in ATTRwt. Read More

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http://dx.doi.org/10.1002/ehf2.12308DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6165925PMC
October 2018
2 Reads

Prevalence of wild type ATTR assessed as myocardial uptake in bone scan in the elderly population.

Int J Cardiol 2018 Nov 6;270:192-196. Epub 2018 Jun 6.

Cardiology Department, University Hospital Virgen de la Arrixaca, Murcia, Spain; Facultad de Medicina, University of Murcia, Murcia, Spain; CIBER Cardiovascular, Instituto de Salud Carlos III, Madrid, Spain. Electronic address:

Background: Myocardial uptake of bone tracers has emerged as useful tool for the early detection of transthyretin amyloidosis (ATTR). The prevalence of wild-type ATTR (ATTRwt) in individuals remains to be established.

Methods: All whole body bone scans performed in individuals ≥ 75 years with no previous clinical suspicion of ATTR were revised in a population-based university hospital over a 7-year period (1509 studies corresponding to 1114 patients; 80. Read More

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http://dx.doi.org/10.1016/j.ijcard.2018.06.006DOI Listing
November 2018
43 Reads

Epigallocatechin-3-gallate tolerability and impact on survival in a cohort of patients with transthyretin-related cardiac amyloidosis. A single-center retrospective study.

Intern Emerg Med 2018 Sep 7;13(6):873-880. Epub 2018 Jun 7.

Tuscan Regional Amyloid Center, Careggi University Hospital, Florence, Italy.

Transthyretin-related (ATTR) cardiac amyloidosis is currently lacking a disease-modifying therapy. Despite demonstration of effectiveness in halting amyloid deposition, no study focused on epigallocatechin-3-gallate (EGCG) impact on patient survival. We sought to explore prognostic impact of EGCG in a cohort of lone cardiac ATTR patients. Read More

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http://dx.doi.org/10.1007/s11739-018-1887-xDOI Listing
September 2018
9 Reads

Systemic angiopathy and axonopathy in hereditary transthyretin amyloidosis with Ala97Gly (p. Ala117Gly) mutation: a post-mortem analysis.

Amyloid 2018 06 1;25(2):141-142. Epub 2018 Jun 1.

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

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http://dx.doi.org/10.1080/13506129.2018.1474734DOI Listing
June 2018
5 Reads

Failure of Tafamidis to Halt Progression of Ala36Pro TTR Oculomeningovascular Amyloidosis.

J Stroke Cerebrovasc Dis 2018 Sep 18;27(9):e212-e214. Epub 2018 May 18.

Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy. Electronic address:

Oculomeningovascular amyloidosis is a variant of transthyretin (TTR) amyloidotic polyneuropathy, which is associated with blindness and brain ischemia, microhemorrages, and siderosis due to prominent production of the abnormal TTR in the eye and in the choroid plexuses. Tafamidis is a TTR stabilizer that is orally administered and, by interfering with amyloid fibril formation and deposition, is capable of slowing progression of TTR polyneuropathy and of early-stage cardiomyopathy. However, the ocular manifestations of amyloid deposition progressed despite tafamidis therapy in Val30Met TTR amyloidosis, and the effects of tafamidis on meningovascular amyloidosis are unknown. Read More

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http://dx.doi.org/10.1016/j.jstrokecerebrovasdis.2018.04.033DOI Listing
September 2018
3 Reads