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Amyloid cardiomyopathy

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https://www.readbyqxmd.com/read/27900617/new-and-evolving-concepts-regarding-the-prognosis-and-treatment-of-cardiac-amyloidosis
#1
REVIEW
Stefano Perlini, Roberta Mussinelli, Francesco Salinaro
Systemic amyloidoses are rare and proteiform diseases, caused by extracellular accumulation of insoluble misfolded fibrillar proteins. Prognosis is dictated by cardiac involvement, which is especially frequent in light chain (AL) and in transthyretin variants (ATTR, both mutated, (ATTRm), and wild-type, (ATTRwt)). Recently, ATTRwt has emerged as a potentially relevant cause of a heart failure with preserved ejection fraction (HFpEF). Cardiac amyloidosis is an archetypal example of restrictive cardiomyopathy, with signs and symptoms of global heart failure and diastolic dysfunction...
November 29, 2016: Current Heart Failure Reports
https://www.readbyqxmd.com/read/27872470/hereditary-amyloidosis-with-recurrent-lung-infiltrates
#2
Alberto E Revelo, Crischelle Magaspi, George Maguire, Wilbert S Aronow
BACKGROUND Amyloidosis is a protein conformational disorder characterized by extracellular deposition of amyloid fibrils in extracellular tissue. Lung involvement is most commonly caused by secondary AL amyloidosis. The familial autosomal-dominant senile transthyretin (ATTR) disease manifests mainly as polyneuropathy and restrictive cardiomyopathy denoting the name familial amyloidotic polyneuropathy (FAP). Rarely, this form manifests with clinical and radiologically relevant respiratory tract symptoms and lung involvement...
November 22, 2016: American Journal of Case Reports
https://www.readbyqxmd.com/read/27859927/clinical-features-of-familial-amyloid-polyneuropathy-carrying-transthyretin-mutations-in-four-chinese-kindreds
#3
Gonglu Liu, Wang Ni, Hongxia Wang, Hongfu Li, Yue Zhang, Ning Wang, Zhiying Wu
Transthyretin-related familial amyloid polyneuropathy (TTR-FAP) is a rare hereditary disorder, characterized by a length-dependent polyneuropathy and dysfunction of various organs. Wide phenotypic heterogeneity makes early diagnosis difficult. In this study, we reviewed the clinical and electrophysiological features of four unrelated Chinese families with genetically confirmed TTR-FAP. Sequence analysis of TTR gene revealed the presence of four different mutations: Thr49Ala(p.Thr69Ala), Leu55Arg(p.Leu75Arg), Tyr116Ser(p...
November 17, 2016: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/27809600/plasma-hepatocyte-growth-factor-is-a-novel-marker-of-al-cardiac-amyloidosis
#4
Kristopher J Swiger, Eitan A Friedman, Evan L Brittain, Kelsey A Tomasek, Shi Huang, Yan R Su, Douglas B Sawyer, Daniel J Lenihan
BACKGROUND: Cardiac amyloidosis is an infiltrative cardiomyopathy that is challenging to diagnose. We hypothesized that the novel biomarkers hepatocyte growth factor (HGF), galectin-3 (GAL-3), interleukin-6 (IL-6), and vascular endothelial growth factor (VEGF) would be elevated in cardiac amyloidosis and may be able to discriminate from non-cardiac systemic amyloidosis or other cardiomyopathies with similar clinical or morphologic characteristics. METHODS: Patients were selected from the Vanderbilt Main Heart Registry according to the following groups: (1) amyloid light-chain (AL) cardiac amyloidosis (n = 26); (2) transthyretin (ATTR) cardiac amyloidosis (n = 7); (3) left ventricular hypertrophy (LVH) (n = 45); (4) systolic heart failure (n = 42); and (5) non-cardiac systemic amyloidosis (n = 7)...
December 2016: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/27806283/biochemical-and-electrophysiological-modification-of-amyloid-transthyretin-on-cardiomyocytes
#5
Laura Sartiani, Monica Bucciantini, Valentina Spinelli, Manuela Leri, Antonino Natalello, Daniele Nosi, Silvia Maria Doglia, Annalisa Relini, Amanda Penco, Sofia Giorgetti, Elisabetta Gerace, Guido Mannaioni, Vittorio Bellotti, Stefania Rigacci, Elisabetta Cerbai, Massimo Stefani
Transthyretin (TTR) amyloidoses are familial or sporadic degenerative conditions that often feature heavy cardiac involvement. Presently, no effective pharmacological therapy for TTR amyloidoses is available, mostly due to a substantial lack of knowledge about both the molecular mechanisms of TTR aggregation in tissue and the ensuing functional and viability modifications that occur in aggregate-exposed cells. TTR amyloidoses are of particular interest regarding the relation between functional and viability impairment in aggregate-exposed excitable cells such as peripheral neurons and cardiomyocytes...
November 1, 2016: Biophysical Journal
https://www.readbyqxmd.com/read/27806176/abrupt-onset-of-refractory-heart-failure-associated-with-light-chain-amyloidosis-in-hypertrophic-cardiomyopathy
#6
Benedetta Tomberli, Francesco Cappelli, Federico Perfetto, Iacopo Olivotto
Importance: The natural history of hypertrophic cardiomyopathy (HCM) is complex and may include progressive heart failure and severe left ventricular dysfunction. When disease progression is abrupt, however, other coexisting diseases should be ruled out. This may be difficult in the case of amyloidosis, which classically mimics HCM. Results: We present an example of severe clinical deterioration in a patient with HCM due to superimposed amyloid light-chain amyloidosis...
November 2, 2016: JAMA Cardiology
https://www.readbyqxmd.com/read/27678147/advances-in-proteomic-study-of-cardiac-amyloidosis-progress-and-potential
#7
Francesca Lavatelli, Giampaolo Merlini
INTRODUCTION: More than ten distinct forms of amyloidoses that can involve the heart have been described, classified according to which protein originates the deposits. Cardiac amyloid infiltration translates into progressive and often life-threatening cardiomyopathy, but disease severity, prognosis and treatment drastically differ according to the amyloidosis type. The notion that protein misfolding and aggregation play a more general role in human cardiomyopathies has further raised attention towards the definition of the proteotoxicity mechanisms...
September 28, 2016: Expert Review of Proteomics
https://www.readbyqxmd.com/read/27614542/cumulative-burden-of-myocardial-dysfunction-in-cardiac-amyloidosis-assessed-using-four-chamber-cardiac-strain
#8
Yuichiro Kado, Masaru Obokata, Yasufumi Nagata, Tomoko Ishizu, Karima Addetia, Kazutaka Aonuma, Masahiko Kurabayashi, Roberto M Lang, Masaaki Takeuchi, Yutaka Otsuji
BACKGROUND: The aim of this study was to test the hypothesis that prognosis in patients with cardiac amyloidosis is closely coupled with amyloid burden in all four cardiac chambers. The goal was to evaluate longitudinal strain (LS) in each cardiac chamber and to determine whether LS in specific cardiac chambers is preferentially associated with prognosis over conventional two-dimensional echocardiographic parameters in patients with cardiac amyloidosis. METHODS: Patients with two phenotypes of left ventricular (LV) hypertrophy (cardiac amyloidosis in 55 patients and nonobstructive hypertrophic cardiomyopathy in 40 patients) and 55 healthy subjects were retrospectively enrolled for the simultaneous assessment of LS of all four cardiac chambers in the apical four-chamber view...
September 7, 2016: Journal of the American Society of Echocardiography
https://www.readbyqxmd.com/read/27590835/insight-into-hypertrophied-hearts-a-cardiovascular-magnetic-resonance-study-of-papillary-muscle-mass-and-t1-mapping
#9
Rebecca Kozor, Sabrina Nordin, Thomas A Treibel, Stefania Rosmini, Silvia Castelletti, Marianna Fontana, Gabriella Captur, Shanat Baig, Richard P Steeds, Derralynn Hughes, Charlotte Manisty, Stuart M Grieve, Gemma A Figtree, James C Moon
AIMS: Left ventricular papillary muscles (LVPM) can appear disproportionately hypertrophied, particularly in Fabry disease (FD) where storage appears detectable by cardiovascular magnetic resonance (CMR) T1 mapping. The aim of the study was to measure LVPM mass in heart diseases with left ventricular hypertrophy (LVH) and to gain insight into the mechanisms of LVPM hypertrophy in FD. METHODS AND RESULTS: Four hundred and seventy-eight cases were retrospectively recruited: 125 FD, 85 hypertrophic cardiomyopathy (HCM), 67 amyloid, 82 aortic stenosis (AS), 40 hypertension, 79 controls...
September 2, 2016: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/27570551/peripheral-blood-cell-gene-expression-diagnostic-for-identifying-symptomatic-transthyretin-amyloidosis-patients-male-and-female-specific-signatures
#10
Sunil M Kurian, Marta Novais, Thomas Whisenant, Terri Gelbart, Joel N Buxbaum, Jeffery W Kelly, Teresa Coelho, Daniel R Salomon
BACKGROUND: Early diagnosis of familial transthyretin (TTR) amyloid diseases remains challenging because of variable disease penetrance. Currently, patients must have an amyloid positive tissue biopsy to be eligible for disease-modifying therapies. Endomyocardial biopsies are typically amyloid positive when cardiomyopathy is suspected, but this disease manifestation is generally diagnosed late. Early diagnosis is often difficult because patients exhibit apparent symptoms of polyneuropathy, but have a negative amyloid biopsy...
2016: Theranostics
https://www.readbyqxmd.com/read/27554493/recent-advances-in-the-noninvasive-strategies-of-cardiac-amyloidosis
#11
Lei Zhao, Quan Fang
The heart, like any organ in the body, is susceptible to amyloid deposition. Although more than 30 types of protein can cause amyloidosis, only two types commonly deposit in the ventricular myocardium: amyloid light chain and amyloid transthyretin. Amyloid cardiomyopathy is usually a major determinant of patient outcomes, and the diagnosis of heart involvement can be often relatively under-diagnosed, owing to nonspecific presenting symptoms and signs at a subclinical stage. The diagnosis of cardiac amyloidosis is usually performed by endomyocardial biopsy; however, the invasive nature and related high-risk complications restrict its wide use in clinical settings...
August 23, 2016: Heart Failure Reviews
https://www.readbyqxmd.com/read/27540285/three-cases-of-systemic-amyloidosis-successfully-diagnosed-by-subcutaneous-fat-tissue-biopsy-of-the-hip
#12
Masahisa Arahata, Shigeru Shimadoi, Satosi Yamatani, Shin-Ichi Hayashi, Shigeharu Miwa, Hidesaku Asakura, Shinji Nakao
Fine-needle aspiration biopsy of the abdominal fat pad is considered to be a minimally invasive procedure for diagnosing systemic amyloidosis. However, this procedure is sometimes difficult and can be dangerous for elderly patients whose abdominal fat layer is thin because of malnutrition. In such cases, alternative diagnostic methods are required. We report three elderly patients with heart failure complicated by malnutrition. In all cases, electrocardiogram showed low voltage in the limb leads and a pseudoinfarct pattern in the chest leads, and echocardiography showed left ventricular wall thickening with granular sparkling appearance...
2016: Clinical Interventions in Aging
https://www.readbyqxmd.com/read/27527836/immunoglobulin-light-chain-amyloidosis-2016-update-on-diagnosis-prognosis-and-treatment
#13
Morie A Gertz
DISEASE OVERVIEW: Immunoglobulin light chain amyloidosis is a clonal, nonproliferative plasma cell disorder in which fragments of immunoglobulin light chain are deposited in tissues. Clinical features depend on organs involved but can include restrictive cardiomyopathy, nephrotic syndrome, hepatic failure, peripheral/autonomic neuropathy, and atypical multiple myeloma. DIAGNOSIS: Tissue biopsy stained with Congo red demonstrating amyloid deposits with applegreen birefringence is required for diagnosis...
September 2016: American Journal of Hematology
https://www.readbyqxmd.com/read/27497715/newer-therapies-for-amyloid-cardiomyopathy
#14
Rajshekhar Chakraborty, Eli Muchtar, Morie A Gertz
The heart and the kidneys are the most commonly involved organs in systemic amyloidosis. Cardiac involvement is associated with an increased morbidity, treatment intolerance, and poorer overall survival. The most common types of amyloidosis that are associated with cardiac involvement include light chain (AL) amyloidosis and transthyretin (TTR) amyloidosis (both mutant and wild type). The traditional first-line treatment for AL amyloidosis includes alkylator-based chemotherapy or high-dose melphalan followed by autologous stem cell transplantation (ASCT)...
October 2016: Current Heart Failure Reports
https://www.readbyqxmd.com/read/27364046/amyloid-cardiomyopathy
#15
EDITORIAL
Merrill D Benson, Noel R Dasgupta
No abstract text is available yet for this article.
July 5, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27355239/suppressing-transthyretin-production-in-mice-monkeys-and-humans-using-2nd-generation-antisense-oligonucleotides
#16
Elizabeth J Ackermann, Shuling Guo, Merrill D Benson, Sheri Booten, Sue Freier, Steven G Hughes, Tae-Won Kim, T Jesse Kwoh, John Matson, Dan Norris, Rosie Yu, Andy Watt, Brett P Monia
Transthyretin amyloidosis (ATTR amyloidosis) is a rare disease that results from the deposition of misfolded transthyretin (TTR) protein from the plasma into tissues as amyloid fibrils, leading to polyneuropathy and cardiomyopathy. IONIS-TTRRx (ISIS 420915) is a 2nd-Generation 2'-O-(2-methoxyethyl) modified "2'-MOE" antisense oligonucleotide (ASO) that targets the TTR RNA transcript and reduces the levels of the TTR transcript through an RNaseH1 mechanism of action, leading to reductions in both mutant and wild-type TTR protein...
June 29, 2016: Amyloid: the International Journal of Experimental and Clinical Investigation
https://www.readbyqxmd.com/read/27353538/a-rare-case-of-ascites-due-to-peritoneal-amyloidosis
#17
Fernanda Stofer, Maria Fernanda Barretto, Ana Luisa Gouvea, Mario Ribeiro, Marcio Neves, Ronaldo Altenburg Gismondi, Luís Otavio Mocarzel
BACKGROUND: The clinical manifestations of amyloidosis depend on the type of insoluble protein as well as the location of amyloid deposits in tissues or organs. In the gastrointestinal tract, the small intestine is the most common site of amyloid deposits, whereas peritoneal involvement and ascites are rare. CASE REPORT: We report on a case of ascites due to peritoneal amyloidosis. A 65-year-old patient was admitted to our institution due to anasarca and pulmonary congestion, mimicking heart failure...
2016: American Journal of Case Reports
https://www.readbyqxmd.com/read/27321750/cardiomyocyte-specific-human-bcl2-associated-anthanogene-3-p209l-expression-induces-mitochondrial-fragmentation-bcl2-associated-anthanogene-3-haploinsufficiency-and-activates-p38-signaling
#18
Megan T Quintana, Traci L Parry, Jun He, Cecelia C Yates, Tatiana N Sidorova, Katherine T Murray, James R Bain, Christopher B Newgard, Michael J Muehlbauer, Samuel C Eaton, Akinori Hishiya, Shin Takayama, Monte S Willis
The Bcl2-associated anthanogene (BAG) 3 protein is a member of the BAG family of cochaperones, which supports multiple critical cellular processes, including critical structural roles supporting desmin and interactions with heat shock proteins and ubiquitin ligases intimately involved in protein quality control. The missense mutation P209L in exon 3 results in a primarily cardiac phenotype leading to skeletal muscle and cardiac complications. At least 10 other Bag3 mutations have been reported, nine resulting in a dilated cardiomyopathy for which no specific therapy is available...
August 2016: American Journal of Pathology
https://www.readbyqxmd.com/read/27291669/extracellular-volume-detects-amyloidotic-cardiomyopathy-and-correlates-with-neurological-impairment-in-transthyretin-familial-amyloidosis
#19
María Gallego-Delgado, Esther González-López, Francisco Muñoz-Beamud, Juan Buades, Lucía Galán, Jose Luis Muñoz-Blanco, Javier Sánchez-González, Borja Ibáñez, Jesus G Mirelis, Pablo García-Pavía
INTRODUCTION AND OBJECTIVES: Cardiac involvement determines prognosis and treatment options in transthyretin-familial amyloidosis. Cardiac magnetic resonance T1 mapping techniques are useful to assess myocardial extracellular volume. This study hypothesized that myocardial extracellular volume allows identification of amyloidotic cardiomyopathy and correlates with the degree of neurological impairment in transthyretin-familial amyloidosis. METHODS: A total of 31 transthyretin-familial amyloidosis patients (19 mean age, 49 ± 12 years; 26 with the Val30Met mutation) underwent a T1 mapping cardiac magnetic resonance study and a neurological evaluation with Neuropathy Impairment Score of the Lower Limb score, Norfolk Quality of Life questionnaire, and Karnofsky index...
June 9, 2016: Revista Española de Cardiología
https://www.readbyqxmd.com/read/27247807/severe-left-ventricular-hypertrophy-small-pericardial-effusion-and-diffuse-late-gadolinium-enhancement-by-cardiac-magnetic-resonance-suspecting-cardiac-amyloidosis-endomyocardial-biopsy-reveals-an-unexpected-diagnosis
#20
Nina P Hofmann, Sorin Giusca, Karin Klingel, Peter Nunninger, Grigorios Korosoglou
Left ventricular (LV) hypertrophy can be related to a multitude of cardiac disorders, such as hypertrophic cardiomyopathy (HCM), cardiac amyloidosis, and hypertensive heart disease. Although the presence of LV hypertrophy is generally associated with poorer cardiac outcomes, the early differentiation between these pathologies is crucial due to the presence of specific treatment options. The diagnostic process with LV hypertrophy requires the integration of clinical evaluation, electrocardiography (ECG), echocardiography, biochemical markers, and if required CMR and endomyocardial biopsy in order to reach the correct diagnosis...
2016: Case Reports in Cardiology
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