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Cardiac amyloidosis

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https://www.readbyqxmd.com/read/28219562/isolated-pericardial-infiltration-without-myocardial-involvement-in%C3%A2-light-chain-related-amyloidosis
#1
Sophie Georgin-Lavialle, Aziz Guellich, Jean-François Deux, David Buob, Thibaud Damy
Light-chain-related amyloidosis is a systemic disease characterized by continuous accumulation of insoluble fibrillar proteins in different organs. Cardiac involvement is frequent in this condition. However, atypical presentations and unusual amyloid deposits localization may be encountered making the diagnosis challenging. We present here a case of a light-chain-related pericardial amyloidosis without evidence of myocardial involvement and emphasize the difficulty and importance of amyloidosis typing before starting treatment...
March 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28197289/cardiac-amyloidosis-masked-as-hypertrophic-cardiomyopathy-a-case-report
#2
Jing Wang, Amy Marzolf, Janet C L Zhang, Anjali Owens, Yuchi Han
It is well known that cardiac amyloidosis and hypertrophic cardiomyopathy (HCM) have different physiologies and pathologies. However, it might be difficult to differentiate cardiac amyloidosis from HCM in certain clinical situations.
October 2016: Cardiology Research
https://www.readbyqxmd.com/read/28196416/blood-proteomic-profiling-in-inherited-attrm-and-acquired-attrwt-forms-of-transthyretin-associated-cardiac-amyloidosis
#3
Gloria G Chan, Clarissa M Koch, Lawreen H Connors
Transthyretin-associated forms of cardiac amyloidosis are fatal protein misfolding diseases that can be inherited (ATTRm) or acquired (ATTRwt). An accurate diagnosis of ATTR amyloidosis can be challenging as biopsy evidence, usually from the affected organ, is required. Precise biomarkers for ATTR disease identification and monitoring are undiscovered, disease-specific therapeutic options are needed, and the current understanding of ATTR molecular pathogenesis is limited. The aim of this study was to investigate and compare the serum proteomes in ATTRm and ATTRwt cardiac amyloidosis to identify differentially expressed blood proteins that were disease-specific...
February 23, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28196196/identification-of-transthyretin-cardiac-amyloidosis-using-serum-retinol-binding-protein-4-and-a-clinical-prediction-model
#4
Marios Arvanitis, Clarissa M Koch, Gloria G Chan, Celia Torres-Arancivia, Michael P LaValley, Daniel R Jacobson, John L Berk, Lawreen H Connors, Frederick L Ruberg
Importance: Transthyretin cardiac amyloidosis (ATTR) is an underrecognized cause of heart failure (HF) in older individuals, owing in part to difficulty in diagnosis. ATTR can result from substitution of valine for isoleucine at codon 122 of the transthyretin (TTR) gene (V122I), present in 3.43% of African American individuals. Objective: To examine whether serum retinol-binding protein 4 (RBP4), an endogenous TTR ligand, could be used as a diagnostic test for ATTR V122I amyloidosis...
February 8, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/28176254/-18-fluorine-sodium-fluoride-positron-emission-tomography-a-potential-biomarker-of-transthyretin-cardiac-amyloidosis
#5
Rachelle Morgenstern, Randy Yeh, Adam Castano, Mathew S Maurer, Sabahat Bokhari
BACKGROUND: Non-invasive imaging to diagnose and quantify amyloid load, progression, and response to treatment are central for the care of patients with cardiac amyloidosis. (18)Fluorine-labeled sodium fluoride ((18)F-NaF) is a widely available radioisotope and PET imaging allows for absolute quantification of tracer uptake. METHODS: Patients with biopsy-proven transthyretin (ATTR-CA) and light-chain cardiac amyloidosis (AL) (3 ATTRwt, 2 ATTRV122I, 2 AL) and controls (n = 5), underwent (18)F-NaF PET imaging...
February 7, 2017: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
https://www.readbyqxmd.com/read/28163147/senile-cardiac-amyloidosis-clinical-manifestations-and-non-invasive-diagnostic-approach
#6
Dimitrios Varvarousis, Kali Polytarchou, Nikolaos Daskalopoulos, Ioannis Mantas
Cardiac amyloidosis (CA) refers to an uncommon storage disease leading to restrictive cardiomyopathy and conduction abnormalities. Survival is generally poor but depends strongly on the amyloid type. Wild type transthyretin amyloidosis or senile cardiac amyloidosis (SCA) is a disease of the >60-year age group, has a relatively better prognosis among the various amyloid types and is considered to be underdiagnosed. We describe a case of a patient with clinical signs and symptoms of restrictive cardiomyopathy and a suggested diagnosis of SCA and discuss the diagnostic and therapeutic approach...
February 2, 2017: Hellenic Journal of Cardiology: HJC, Hellēnikē Kardiologikē Epitheōrēsē
https://www.readbyqxmd.com/read/28154276/the-imaging-diagnosis-of-less-advanced-cases-of-cardiac-amyloidosis-the-relative-apical-sparing-pattern
#7
Koya Ono, Go Ishimaru, Miho Hayashi, Yuan Bae, Takashi Ito, Toshiyuki Izumo, Ken Murata
An early diagnosis is important for improving the prognosis of cardiac amyloidosis (CA). We herein describe the utility of two-dimensional speckle tracking echocardiography (2-D STE) in diagnosing CA at a less advanced stage. A 63-year-old woman with exertional dyspnea was suspected of having CA based on her echocardiographic and electrocardiographic findings. A myocardial biopsy was negative for amyloid deposits, while the relative apical sparing pattern was detected on 2-D STE, which was highly suggestive of CA...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28153537/quantitative-assessment-of-systolic-and-diastolic-function-in-patients-with-lge-negative-systemic-amyloidosis-using-cmr
#8
Daniel L R Kuetting, Rami Homsi, Alois M Sprinkart, Julian Luetkens, Daniel K Thomas, Hans H Schild, Darius Dabir
OBJECTIVES: In clinical routine myocardial affection in amyloidosis is assessed by qualitative late gadolinium enhancement (LGE). Recent studies suggest that early cardiac involvement in amyloidosis may be overlooked by qualitative LGE assessment. The aim of this study was to assess possible early cardiac involvement in LGE negative AL patients by means of systolic and diastolic strain assessment and quantitative enhancement. METHODS: 51 individuals (17 Patients with LGE positive light-chain amyloidosis (AL) (Group A), 17 Patients with LGE negative systemic AL (Group B), and 17 healthy controls (Group C)) were investigated...
December 22, 2016: International Journal of Cardiology
https://www.readbyqxmd.com/read/28152524/tafamidis-for-the-treatment-of-hereditary-transthyretin-amyloid-cardiomyopathy-a-case-report
#9
Teppei Fujita, Takayuki Inomata, Toyoji Kaida, Yuichirou Iida, Yuki Ikeda, Takeru Nabeta, Shunsuke Ishii, Emi Maekawa, Takashi Naruke, Toshimi Koitabashi, Eiji Kitamura, Yoshiki Sekijima, Junya Ako
Tafamidis meglumine is a novel medicine that has been shown to slow the progression of peripheral neurological impairment in patients with hereditary transthyretin amyloidosis (ATTR). However, the efficacy of tafamidis against ATTR-related cardiac amyloidosis remains unclear. A 72-year-old woman had cardiac hypertrophy and axonopathy in her lower legs. Endomyocardial biopsy revealed an infiltrative cardiomyopathy consistent with amyloidosis. Immunostaining and genetic studies confirmed the diagnosis of ATTR, and tafamidis was started subsequently...
February 3, 2017: Cardiology
https://www.readbyqxmd.com/read/28150156/technetium-99m-pyrophosphate-radioisotope-for-diagnosis-and-prognosis-of-transthyretin-cardiac-amyloidosis-a-call-for-collaboration
#10
EDITORIAL
Adam Castaño, Mathew S Maurer, Sabahat Bokhari
No abstract text is available yet for this article.
February 1, 2017: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
https://www.readbyqxmd.com/read/28150064/role-of-imaging-in-evaluating-infiltrative-heart-disease
#11
REVIEW
Sanjay Divakaran, Avinainder Singh, Bradley Collins, Tomas Vita, Rodney H Falk, Marcelo F Di Carli, Ron Blankstein
Infiltrative heart disease is caused by the deposition of abnormal substances in the heart and can lead to abnormalities in cardiac function and electrical conduction. Advances in non-invasive cardiovascular imaging have allowed for improved diagnosis of infiltrative heart disease, as well as ways to track disease progression or regression, thus enabling a mechanism to follow response to therapy. In this review, we provide an overview of the role of imaging in the diagnosis and management of cardiac sarcoidosis (CS) and cardiac amyloidosis (CA), as well as outline a proposed algorithm for using non-invasive cardiovascular imaging for evaluating these conditions...
January 2017: Current Treatment Options in Cardiovascular Medicine
https://www.readbyqxmd.com/read/28145535/amyloid-cardiomyopathy
#12
Lucie Karafiatova, Tomas Pika
Amyloidosis is a heterogeneous group of diseases characterized by the deposition of amyloid. It is caused by extracellular deposition of insoluble fibrils with beta-pleated sheet configuration. The protein misfolding abnormalities result in amyloid fibrils and may manifest as primary, secondary, or familial amyloidosis. Amyloid deposition can occur in multiple organs (eg, heart, liver, kidney, skin, eyes, lungs, nervous system) resulting in a variety of clinical manifestations. Cardiac involvement can occur as part of a systemic disease or as a localized phenomenon...
February 1, 2017: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
https://www.readbyqxmd.com/read/28144400/cutting-edge-clinical-applications-in-cardiovascular-magnetic-resonance
#13
EDITORIAL
Carlo N De Cecco, Giuseppe Muscogiuri, Akos Varga-Szemes, U Joseph Schoepf
Today, the use of cardiovascular magnetic resonance (CMR) is widespread in clinical practice. The increased need to evaluate of subtle myocardial changes, coronary artery anatomy, and hemodynamic assessment has prompted the development of novel CMR techniques including T1 and T2 mapping, non-contrast angiography and four dimensional (4D) flow. T1 mapping is suitable for diagnosing pathologies affecting extracellular volume such as myocarditis, diffuse myocardial fibrosis and amyloidosis, and is a promising diagnostic tool for patients with iron overload and Fabry disease...
January 28, 2017: World Journal of Radiology
https://www.readbyqxmd.com/read/28132512/cardiac-light-chain-amyloidosis-the-role-of-metal-ions-in-oxidative-stress-and-mitochondrial-damage
#14
Luisa Diomede, Margherita Romeo, Paola Rognoni, Marten Beeg, Claudia Foray, Elena Ghibaudi, Giovanni Palladini, Robert Alan Cherny, Laura Verga, Gian Luca Capello, Vittorio Perfetti, Fabio Fiordaliso, G Merlini, Mario Salmona
<b>Aims: </b>The knowledge of the mechanism underlying the cardiac damage in immunoglobulin light chain (LC) amyloidosis (AL) is essential to develop novel therapies and improve patients' outcome. Although an active role of radical oxygen species (ROS) in LC-induced cardiotoxicity has already been envisaged, the actual mechanisms behind their generation remain elusive. This study was aimed at further dissecting the action of ROS generated by cardiotoxic LC in vivo and investigating whether transition metal ions are involved in this process...
January 28, 2017: Antioxidants & Redox Signaling
https://www.readbyqxmd.com/read/28129067/radiologic-pathologic-correlation-of-primary-and-secondary-cardiomyopathies-mr-imaging-and-histopathologic-findings-in-hearts-from-autopsy-and-transplantation
#15
Hiromi Hashimura, Fumiko Kimura, Hatsue Ishibashi-Ueda, Yoshiaki Morita, Masahiro Higashi, Shintaro Nakano, Atsushi Iguchi, Kensuke Uotani, Kazuro Sugimura, Hiroaki Naito
Cardiac magnetic resonance (MR) imaging with late gadolinium enhancement (LGE) is used to detect and assess the myocardial damage seen with a variety of cardiomyopathies. Gadolinium-based contrast material accumulates in the expanded interstitial space of the myocardium. Areas with LGE correspond to replacement fibrosis, fibrofatty change, epithelioid granuloma, inflammatory cell infiltration, cardiomyocyte necrosis, and amyloid deposition-conditions that represent a focal increase in interstitial space. Areas without LGE correspond to interstitial or plexiform fibrosis, mildly degenerated cardiomyocytes, inflammatory cell infiltration, and diffuse amyloid deposition-conditions that represent diffuse increases in interstitial space...
January 27, 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/28124791/recovery-from-heart-failure-in-a-patient-with-cardiac-amyloidosis-treated-with-autologous-stem-cell-transplantation
#16
Monika Gawor, Łukasz Mazurkiewicz, Blanka Milanowska, Jacek Grzybowski
No abstract text is available yet for this article.
2017: Kardiologia Polska
https://www.readbyqxmd.com/read/28117074/light-chain-cardiac-amyloidosis
#17
REVIEW
Anit K Mankad, Isata Sesay, Keyur B Shah
Cardiac amyloidosis is an underrecognized condition, in which delays to diagnosis have great implications on management options, prognosis, and morbidity. Once cardiac tissue is infiltrated by amyloid fibrils, there is a cascade of pathologic changes that can display an array of clinical manifestations, from impaired relaxation of the ventricular myocardium to severe restrictive disease or even progressive systolic heart failure. Management is guided not only by recognizing the subtype of amyloidosis (primary, hereditary, and wild-type transthyretin amyloidosis), but also the clinical stage of the disease...
November 17, 2016: Current Problems in Cancer
https://www.readbyqxmd.com/read/28111409/correct-diagnosis-of-wild-type-transthyretin-related-amyloidosis-followed-by-the-introduction-of-a-novel-therapy-in-a-patient-with-cardiac-wall-thickening-of-unknown-cause
#18
Naoko Sawada, Atsuko Nakayama, Masao Takahashi, Mariko Tanaka, Hiroyuki Morita, Hiroshi Akazawa, Issei Komuro
We report here the case of a 67-year-old man who was initially diagnosed with myocardial hypertrophy with progressive hypertensive heart disease. After 6 years a cardiac biopsy was conducted because of changes in the electrocardiogram and transthoracic echocardiogram results, revealing amyloid deposition. Additional genetic studies revealed no TTR gene mutations, leading to a definitive diagnosis of wild-type transthyretin-related amyloidosis (ATTR). The patient started taking diflunisal as a stabilizer which is one of the advanced therapies for ATTR, and then the heart failure symptoms and brain natriuretic peptide (BNP) level improved in short-term follow-up...
February 7, 2017: International Heart Journal
https://www.readbyqxmd.com/read/28103898/the-burden-of-amyloid-light-chain-amyloidosis-on-health-related-quality-of-life
#19
Martha Bayliss, Kristen L McCausland, Spencer D Guthrie, Michelle K White
BACKGROUND: Light chain (AL) amyloidosis is a rare disease characterized by misfolded amyloid protein deposits in tissues and vital organs, and little is known about the burden of AL amyloidosis on health-related quality of life. This study aimed to quantify the burden of AL amyloidosis in terms of health-related quality of life in a diverse, community-based sample of AL amyloidosis patients. RESULTS: The SF-36v2® Health Survey (SF-36v2), a widely used generic measure of health-related quality of life (using physical and mental summary scales and subscales assessing eight aspects of functioning and well-being), was administered as an online survey of AL amyloidosis patients with AL amyloidosis (ClinicalTrials...
January 19, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28102864/transthyretin-v122i-pv142i-cardiac-amyloidosis-an-age-dependent-autosomal-dominant-cardiomyopathy-too-common-to-be-overlooked-as-a-cause-of-significant-heart-disease-in-elderly-african-americans
#20
REVIEW
Joel N Buxbaum, Frederick L Ruberg
Since the identification of a valine-to-isoleucine substitution at position 122 (TTR V122I; pV142I) in the transthyretin (TTR)-derived fibrils extracted from the heart of a patient with late-onset cardiac amyloidosis, it has become clear that the amyloidogenic mutation and the disease occur almost exclusively in individuals of identifiable African descent. In the United States, the amyloidogenic allele frequency is 0.0173 and is carried by 3.5% of community-dwelling African Americans. Genotyping across Africa indicates that the origin of the allele is in the West African countries that were the major source of the slave trade to North America...
January 19, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
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