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Amyloid cardiomyopathy

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
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
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
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
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
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
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
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)...
August 6, 2016: Current Heart Failure Reports
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
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
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
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
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
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
Youssef Bennani Smires, Gérard Victor, David Ribes, Matthieu Berry, Thomas Cognet, Simon Méjean, Antoine Huart, Murielle Roussel, Antoine Petermann, Jérôme Roncalli, Didier Carrié, Hervé Rousseau, Isabelle Berry, Dominique Chauveau, Michel Galinier, Olivier Lairez
This study sought to phenotype patients over 65 years old with heart failure and preserved ejection fraction (HFpEF) using clinical available comprehensive cardiovascular imaging modalities. Forty-nine patients with HFpEF and without coronary artery disease underwent clinical evaluation, electrocardiography, echocardiography, cardiac magnetic resonance (CMR) and (99m)Tc-3,3-diphosphono-1,2-propanodicarboxylic acid scintigraphy ((99m)Tc-DPD). The mean population age was 76 ± 8 years. Most of the patients (53 %) were NYHA class II...
May 30, 2016: International Journal of Cardiovascular Imaging
Dania Mohty, Cyrille Boulogne, Julien Magne, Nicolas Varroud-Vial, Sylvain Martin, Hind Ettaif, Bahaa M Fadel, Frank Bridoux, Victor Aboyans, Thibaud Damy, Arnaud Jaccard
BACKGROUND: Cardiac involvement in systemic light-chain amyloidosis (AL) imparts an adverse impact on outcome. The left atrium (LA), by virtue of its anatomical location and muscular wall, is commonly affected by the amyloid process. Although LA infiltration by amyloid fibrils leads to a reduction in its pump function, the infiltration of the left ventricular (LV) myocardium results in diastolic dysfunction with subsequent increase in filling pressures and LA enlargement. Even though left atrial volume (LAV) is an independent prognostic marker in many cardiomyopathies, its value in amyloid heart disease remains to be determined...
September 2016: European Heart Journal Cardiovascular Imaging
Keyur B Shah, Anit K Mankad, Adam Castano, Olakunle O Akinboboye, Phillip B Duncan, Icilma V Fergus, Mathew S Maurer
Transthyretin-related cardiac amyloidosis is a progressive infiltrative cardiomyopathy that mimics hypertensive and hypertrophic heart disease and often goes undiagnosed. In the United States, the hereditary form disproportionately afflicts black Americans, who when compared with whites with wild-type transthyretin amyloidosis, a phenotypically similar condition, present with more advanced disease despite having a noninvasive method for early identification (genetic testing). Although reasons for this are unclear, this begs to consider the inadequate access to care, societal factors, or a biological basis...
June 2016: Circulation. Heart Failure
Seijiro Shimada, Shunji Maekura, Hikaru Ino, Masayosi Matsuura, Nobutaka Masunaga, Takahiro Matsumoto, Junkichi Hama
Amyloidosis is a well-known but uncommon disease, and the physician must maintain a high index of suspicion in order to make a timely diagnosis. The expected survival of patients with cardiac amyloidosis is generally poor. In particular, survival has been reported to be 4-12 months for patients with amyloid light-chain amyloidosis with congestive heart failure. We herein report a rare case of cardiac amyloidosis in which the patient presented with cardiac hypertrophy after a 20-year history of dilated cardiomyopathy and heart failure...
2016: Internal Medicine
Julian D Gillmore, Mathew S Maurer, Rodney H Falk, Giampaolo Merlini, Thibaud Damy, Angela Dispenzieri, Ashutosh D Wechalekar, John L Berk, Candida C Quarta, Martha Grogan, Helen J Lachmann, Sabahat Bokhari, Adam Castano, Sharmila Dorbala, Geoff B Johnson, Andor W J M Glaudemans, Tamer Rezk, Marianna Fontana, Giovanni Palladini, Paolo Milani, Pierluigi L Guidalotti, Katarina Flatman, Thirusha Lane, Frederick W Vonberg, Carol J Whelan, James C Moon, Frederick L Ruberg, Edward J Miller, David F Hutt, Bouke P Hazenberg, Claudio Rapezzi, Philip N Hawkins
BACKGROUND: Cardiac transthyretin (ATTR) amyloidosis is a progressive and fatal cardiomyopathy for which several promising therapies are in development. The diagnosis is frequently delayed or missed because of the limited specificity of echocardiography and the traditional requirement for histological confirmation. It has long been recognized that technetium-labeled bone scintigraphy tracers can localize to myocardial amyloid deposits, and use of this imaging modality for the diagnosis of cardiac ATTR amyloidosis has lately been revisited...
June 14, 2016: Circulation
Lidia Ciccone, Susanna Nencetti, Armando Rossello, Enrico Adriano Stura, Elisabetta Orlandini
Transthyretin (TTR), a β-sheet-rich tetrameric protein, in equilibrium with an unstable amyloidogenic monomeric form is responsible for extracellular deposition of amyloid fibrils, is associated with the onset of neurodegenerative diseases, such as senile systemic amyloidosis, familial amyloid polyneuropathy and familial amyloid cardiomyopathy. One of the therapeutic strategies is to use small molecules to stabilize the TTR tetramer and thus curb amyloid fibril formation. Here, we report the synthesis, the in vitro evaluation of several halogen substituted 9-fluorenyl- and di-benzophenon-based ligands and their three-dimensional crystallographic analysis in complex with TTR...
April 11, 2016: Journal of Enzyme Inhibition and Medicinal Chemistry
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