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https://www.readbyqxmd.com/read/28728693/broadening-the-phenotypic-spectrum-and%C3%A2-the-diagnostic-needs-of-ttr-related-cardiac-amyloidosis
#1
EDITORIAL
Claudio Rapezzi, Anna Laura Tinuper, Massimiliano Lorenzini
No abstract text is available yet for this article.
July 25, 2017: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/28672034/skin-globotriaosylceramide-3-deposits-are-specific-to-fabry-disease-with-classical-mutations-and-associated-with-small-fibre-neuropathy
#2
Rocco Liguori, Alex Incensi, Silvia de Pasqua, Renzo Mignani, Enrico Fileccia, Marisa Santostefano, Elena Biagini, Claudio Rapezzi, Silvia Palmieri, Ilaria Romani, Walter Borsini, Alessandro Burlina, Roberto Bombardi, Marco Caprini, Patrizia Avoni, Vincenzo Donadio
BACKGROUND: Fabry Disease (FD) is characterized by globotriaosylceramide-3 (Gb3) accumulation in several tissues and a small fibre neuropathy (SFN), however the underlying mechanisms are poorly known. This study aimed to: 1) ascertain the presence of Gb3 deposits in skin samples, by an immunofluorescence method collected from FD patients with classical GLA mutations or late-onset FD variants or GLA polymorphisms; 2) correlate skin GB3 deposits with skin innervation. METHODS: we studied 52 genetically-defined FD patients (32 with classical GLA mutations and 20 with late-onset variants or GLA polymorphisms), 15 patients with SFN associated with a specific cause and 22 healthy controls...
2017: PloS One
https://www.readbyqxmd.com/read/28667454/effects-of-cardiac-resynchronization-therapy-on-right-ventricular-function-during-rest-and-exercise-as-assessed-by-radionuclide-angiography-and-on-nt-probnp-levels
#3
Cinzia Valzania, Mauro Biffi, Rachele Bonfiglioli, Francesco Fallani, Cristian Martignani, Igor Diemberger, Matteo Ziacchi, Jessica Frisoni, Luciana Tomasi, Stefano Fanti, Claudio Rapezzi, Giuseppe Boriani
AIM: We carried out this study to investigate mid-term effects of cardiac resynchronization therapy (CRT) on right ventricular (RV) function and neurohormonal response, expressed by N-terminal pro-brain natriuretic peptide (NT-proBNP), in heart failure patients stratified by baseline RV ejection fraction (RVEF). METHODS AND RESULTS: Thirty-six patients with nonischemic dilated cardiomyopathy underwent technetium-99m radionuclide angiography with bicycle exercise immediately after CRT implantation (during spontaneous rhythm and after CRT activation) and 3 months later...
June 30, 2017: Journal of Nuclear Cardiology: Official Publication of the American Society of Nuclear Cardiology
https://www.readbyqxmd.com/read/28637305/left-atrial-structure-and-function-in-cardiac-amyloidosis
#4
Kotaro Nochioka, Candida Cristina Quarta, Brian Claggett, Gabriela Querejeta Roca, Claudio Rapezzi, Rodney H Falk, Scott D Solomon
Aims: Although cardiac amyloidosis (CA) is characterized by significant left atrial (LA) dilatation, the characteristics of LA function remain to be fully investigated. Methods and results: We assessed LA function by speckle-tracking echocardiography in 124 patients with CA and sinus rhythm: 68 with light chain (AL), 29 with mutant (ATTRm), 27 with wild-type (ATTRwt) transthyretin amyloidosis. Conventional and strain-derived parameters, including LA peak longitudinal strain (LS) and strain rate (peak LSR: reservoir function; early LSR: conduit function; late LSR: active function), were assessed compared between CA patients and 20 healthy controls of similar age and gender...
June 16, 2017: European Heart Journal Cardiovascular Imaging
https://www.readbyqxmd.com/read/28611125/design-and-rationale-of-the-phase-3-attr-act-clinical-trial-tafamidis-in-transthyretin-cardiomyopathy-clinical-trial
#5
Mathew S Maurer, Perry Elliott, Giampaolo Merlini, Sanjiv J Shah, Márcia Waddington Cruz, Alison Flynn, Balarama Gundapaneni, Carolyn Hahn, Steven Riley, Jeffrey Schwartz, Marla B Sultan, Claudio Rapezzi
Transthyretin amyloidosis is a rare, life-threatening disease resulting from aggregation and deposition of transthyretin amyloid fibrils in various tissues. There are 2 predominate phenotypic presentations of the disease: transthyretin familial amyloid polyneuropathy, which primarily affects the peripheral nerves, and transthyretin cardiomyopathy (TTR-CM), which primarily affects the heart. However, there is a wide overlap with symptoms at presentation and disease course being highly variable and influenced by the underlying transthyretin mutation, age of the affected individual, sex, and geographic location...
June 2017: Circulation. Heart Failure
https://www.readbyqxmd.com/read/28608152/recovering-from-chronic-myeloid-leukemia-the-patients-perspective-seen-through-the-lens-of-narrative-medicine
#6
G Graffigna, I Cecchini, M Breccia, E Capochiani, R Della Seta, S Galimberti, A Melosi, F Simonetti, M Pizzuti, S F Capalbo, F Falzetti, P Mazza, N Di Renzo, L Mastrullo, D Rapezzi, E Orlandi, T Intermesoli, A Iurlo, E Pungolino, M Pacilli
PURPOSE: The main objective of this study is to gain a deeper understanding of how patients suffering from chronic myeloid leukemia (CML) cope with their illness. The study aims to reconstruct the subjective meaning-making process related to CML in order to gain insights into the impact the disease has on patients' emotions and everyday lives, as well as to explore the psychological impact of their being presented with the chance to suspend their therapy and recover from the disease. METHODS: Data were gathered from a qualitative study conducted in Italy on 158 Italian CML patients...
June 12, 2017: Quality of Life Research
https://www.readbyqxmd.com/read/28584972/relation-between-thoracic-aortic-inflammation-and-features-of-plaque-vulnerability-in-the-coronary-tree-in-patients-with-non-st-segment-elevation-acute-coronary-syndrome-undergoing-percutaneous-coronary-intervention-an-fdg-positron-emission-tomography-and-optical
#7
Nevio Taglieri, Cristina Nanni, Gabriele Ghetti, Rachele Bonfiglioli, Francesco Saia, Maria Letizia Bacchi Reggiani, Giacomo Maria Lima, Valeria Marco, Francesco Prati, Stefano Fanti, Claudio Rapezzi
PURPOSE: To evaluate the relationship between aortic inflammation as assessed by (18)F-fluorodeoxyglucose-positron emission tomography ((18)F-FDG-PET) and features of plaque vulnerability as assessed by frequency domain-optical coherence tomography (FD-OCT). METHODS: We enrolled 30 consecutive non-ST-segment elevation acute coronary syndrome patients undergoing percutaneous coronary intervention. All patients underwent three-vessel OCT before intervention and (18)F-FDG-PET before discharge...
June 6, 2017: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28455632/utility-of-stress-perfusion-cardiac-magnetic-resonance-in-follow-up-of-patients-undergoing-percutaneous-coronary-interventions-of-the-left-main-coronary-artery
#8
Samuele Nanni, Luigi Lovato, Gabriele Ghetti, Fabio Vagnarelli, GianGaspare Mineo, Rossella Fattori, Francesco Saia, Antonio Marzocchi, Cinzia Marrozzini, Maurizio Zompatori, Letizia Bacchi Reggiani, Franco Semprini, Giovanni Melandri, Elena Biagini, Anna Corsini, Giulia Norscini, Claudio Rapezzi
To assess the accuracy of cardiac magnetic resonance (CMR) for the diagnosis of angiographic stenosis after percutaneous coronary intervention (PCI) of left main coronary artery (LMCA). Patients undergone in the last year PCI of unprotected LMCA and scheduled for conventional X-ray coronary angiography (CXA) were evaluated with stress perfusion CMR within 2 weeks before CXA. Main contraindications to CMR were exclusion criteria. Stress perfusion CMR was performed to follow a bolus of contrast Gadobutrol after 3 min of adenosine infusion...
April 28, 2017: International Journal of Cardiovascular Imaging
https://www.readbyqxmd.com/read/28384285/impact-of-genotype-and-phenotype-on-cardiac-biomarkers-in-patients-with-transthyretin-amyloidosis-report-from-the-transthyretin-amyloidosis-outcome-survey-thaos
#9
Arnt V Kristen, Mathew S Maurer, Claudio Rapezzi, Rajiv Mundayat, Ole B Suhr, Thibaud Damy
AIM: Cardiac troponins and natriuretic peptides are established for risk stratification in light-chain amyloidosis. Data on cardiac biomarkers in transthyretin amyloidosis (ATTR) are lacking. METHODS AND RESULTS: Patients (n = 1617) with any of the following cardiac biomarkers, BNP (n = 1079), NT-proBNP (n = 550), troponin T (n = 274), and troponin I (n = 108), available at baseline in the Transthyretin Amyloidosis Outcomes Survey (THAOS) were analyzed for differences between genotypes and phenotypes and their association with survival...
2017: PloS One
https://www.readbyqxmd.com/read/28373528/addressing-common-questions-encountered-in-the-diagnosis-and-management-of-cardiac-amyloidosis
#10
REVIEW
Mathew S Maurer, Perry Elliott, Raymond Comenzo, Marc Semigran, Claudio Rapezzi
Advances in cardiac imaging have resulted in greater recognition of cardiac amyloidosis in everyday clinical practice, but the diagnosis continues to be made in patients with late-stage disease, suggesting that more needs to be done to improve awareness of its clinical manifestations and the potential of therapeutic intervention to improve prognosis. Light chain cardiac amyloidosis, in particular, if recognized early and treated with targeted plasma cell therapy, can be managed very effectively. For patients with transthyretin amyloidosis, there are numerous therapies that are currently in late-phase clinical trials...
April 4, 2017: Circulation
https://www.readbyqxmd.com/read/28329248/clinical-characteristics-of-wild-type-transthyretin-cardiac-amyloidosis-disproving-myths
#11
Esther González-López, Christian Gagliardi, Fernando Dominguez, Cristina Candida Quarta, F Javier de Haro-Del Moral, Agnese Milandri, Clara Salas, Mario Cinelli, Marta Cobo-Marcos, Massimiliano Lorenzini, Enrique Lara-Pezzi, Serena Foffi, Luis Alonso-Pulpon, Claudio Rapezzi, Pablo Garcia-Pavia
Aims: Wild-type transthyretin amyloidosis (ATTRwt) is mostly considered a disease predominantly of elderly male, characterized by concentric LV hypertrophy, preserved LVEF, and low QRS voltages. We sought to describe the characteristics of a large cohort of ATTRwt patients to better define the disease. Methods and results: Clinical findings of consecutive ATTRwt patients diagnosed at 2 centres were reviewed. ATTRwt was diagnosed histologically or non-invasively (LV hypertrophy ≥12 mm, intense cardiac uptake at 99mTc-DPD scintigraphy and AL exclusion)...
March 1, 2017: European Heart Journal
https://www.readbyqxmd.com/read/27875721/percutaneous-mitral-valve-repair-the-last-chance-for-symptoms-improvement-in-advanced-refractory-chronic-heart-failure
#12
Alessandra Berardini, Elena Biagini, Francesco Saia, Davide Stolfo, Mario Previtali, Francesco Grigioni, Bruno Pinamonti, Gabriele Crimi, Alessandro Salvi, Maurizio Ferrario, Antonio De Luca, Fabrizio Gazzoli, Maria Letizia Bacchi Reggiani, Claudia Raineri, Gianfranco Sinagra, Claudio Rapezzi
BACKGROUND: The role of percutaneous mitral valve repair (PMVR) in patients with end-stage heart failure (HF) and functional mitral regurgitation (FMR) is unclear. METHODS: Seventy-five consecutive patients with FMR grade≥3+ and severe HF symptoms despite optimal medical therapy and resynchronization therapy underwent PMVR with the MitraClip system (Abbott, Abbott Park, IL, USA) at 3 centers. Clinical evaluation, echocardiography and pro-BNP measurement were performed at baseline and at 6-month...
February 1, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/27828830/right-ventricular-arrhythmogenic-cardiomyopathy-genetic-and-mr-for-modern-clinical-diagnosis
#13
Maddalena Graziosi, Claudio Rapezzi
No abstract text is available yet for this article.
January 2017: Journal of Cardiovascular Medicine
https://www.readbyqxmd.com/read/27813534/splanchnic-vein-thrombosis-in-myeloproliferative-neoplasms-risk-factors-for-recurrences-in-a-cohort-of-181-patients
#14
V De Stefano, A M Vannucchi, M Ruggeri, F Cervantes, A Alvarez-Larrán, A Iurlo, M L Randi, L Pieri, E Rossi, P Guglielmelli, S Betti, E Elli, M C Finazzi, G Finazzi, E Zetterberg, N Vianelli, G Gaidano, I Nichele, D Cattaneo, M Palova, M H Ellis, E Cacciola, A Tieghi, J C Hernandez-Boluda, E Pungolino, G Specchia, D Rapezzi, A Forcina, C Musolino, A Carobbio, M Griesshammer, T Barbui
We retrospectively studied 181 patients with polycythaemia vera (n=67), essential thrombocythaemia (n=67) or primary myelofibrosis (n=47), who presented a first episode of splanchnic vein thrombosis (SVT). Budd-Chiari syndrome (BCS) and portal vein thrombosis were diagnosed in 31 (17.1%) and 109 (60.3%) patients, respectively; isolated thrombosis of the mesenteric or splenic veins was detected in 18 and 23 cases, respectively. After this index event, the patients were followed for 735 patient years (pt-years) and experienced 31 recurrences corresponding to an incidence rate of 4...
November 4, 2016: Blood Cancer Journal
https://www.readbyqxmd.com/read/27798053/relationship-between-aetiology-and-left-ventricular-systolic-dysfunction-in-hypertrophic-cardiomyopathy
#15
MULTICENTER STUDY
Stefania Rosmini, Elena Biagini, Costantinos O'Mahony, Heerajnarain Bulluck, Niccolo' Ruozi, Luis R Lopes, Oliver Guttmann, Patricia Reant, Cristina C Quarta, Antonis Pantazis, Maria Tome-Esteban, William J Mckenna, Claudio Rapezzi, Perry M Elliott
BACKGROUND: Severe left ventricular (LV) systolic dysfunction is an uncommon complication of hypertrophic cardiomyopathy (HCM) that is associated with poor prognosis. Small observational series suggest that patients with rare causes of HCM are more likely to develop systolic impairment than those with idiopathic disease or mutations in cardiac sarcomeric protein genes. The aim of this study was to test this hypothesis by comparing the prevalence of systolic dysfunction and its impact on prognosis in patients with different causes of HCM...
October 24, 2016: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/27794017/predictors-of-atrial-fibrillation-in-hypertrophic-cardiomyopathy
#16
Oliver P Guttmann, Menelaos Pavlou, Constantinos O'Mahony, Lorenzo Monserrat, Aristides Anastasakis, Claudio Rapezzi, Elena Biagini, Juan Ramon Gimeno, Giuseppe Limongelli, Pablo Garcia-Pavia, William J McKenna, Rumana Z Omar, Perry M Elliott
OBJECTIVES: Atrial fibrillation (AF) is associated with increased morbidity and mortality in patients with hypertrophic cardiomyopathy (HCM). The primary aim of this study (HCM Risk-AF) was to determine the predictors of AF in a large multicentre cohort of patients with HCM. Exploratory analyses were performed to investigate the association between AF and survival and the efficacy of antiarrhythmic therapy in maintaining sinus rhythm (SR). METHODS: A retrospective, longitudinal cohort of patients recruited between 1986 and 2008 in seven centres was used to develop multivariable Cox regression models fitted with preselected predictors...
October 28, 2016: Heart: Official Journal of the British Cardiac Society
https://www.readbyqxmd.com/read/27618852/histological-and-histometric-characterization-of-myocardial-fibrosis-in-end-stage-hypertrophic-cardiomyopathy-a-clinical-pathological-study-of-30-explanted-hearts
#17
Giuseppe Galati, Ornella Leone, Ferdinando Pasquale, Iacopo Olivotto, Elena Biagini, Francesco Grigioni, Emanuele Pilato, Massimiliano Lorenzini, Barbara Corti, Alberto Foà, Valentina Agostini, Franco Cecchi, Claudio Rapezzi
BACKGROUND: Although noninvasively detected myocardial fibrosis (MF) has clinical implications in hypertrophic cardiomyopathy, the extent, type, and distribution of ventricular MF have never been extensively pathologically characterized. We assessed the overall amount, apex-to-base, circumferential, epicardial-endocardial distribution, pattern, and type of MF in 30 transplanted hearts of end-stage, hypertrophic cardiomyopathy. METHODS AND RESULTS: Visual and morphometric histological analyses at basal, midventricular, and apical levels were performed...
September 2016: Circulation. Heart Failure
https://www.readbyqxmd.com/read/27600940/targeted-next-generation-sequencing-helps-to-decipher-the-genetic-and-phenotypic-heterogeneity-of-hypertrophic-cardiomyopathy
#18
Massimiliano Cecconi, Maria I Parodi, Francesco Formisano, Paolo Spirito, Camillo Autore, Maria B Musumeci, Stefano Favale, Cinzia Forleo, Claudio Rapezzi, Elena Biagini, Sabrina Davì, Elisabetta Canepa, Loredana Pennese, Mauro Castagnetta, Dario Degiorgio, Domenico A Coviello
Hypertrophic cardiomyopathy (HCM) is mainly associated with myosin, heavy chain 7 (MYH7) and myosin binding protein C, cardiac (MYBPC3) mutations. In order to better explain the clinical and genetic heterogeneity in HCM patients, in this study, we implemented a target-next generation sequencing (NGS) assay. An Ion AmpliSeq™ Custom Panel for the enrichment of 19 genes, of which 9 of these did not encode thick/intermediate and thin myofilament (TTm) proteins and, among them, 3 responsible of HCM phenocopy, was created...
October 2016: International Journal of Molecular Medicine
https://www.readbyqxmd.com/read/27585509/genetic-screening-of-anderson-fabry-disease-in-probands-referred-from-multispecialty-clinics
#19
MULTICENTER STUDY
Valentina Favalli, Eliana Disabella, Mariadelfina Molinaro, Marilena Tagliani, Anna Scarabotto, Alessandra Serio, Maurizia Grasso, Nupoor Narula, Carmela Giorgianni, Clelia Caspani, Monica Concardi, Manuela Agozzino, Calogero Giordano, Alexandra Smirnova, Takahide Kodama, Lorenzo Giuliani, Elena Antoniazzi, Riccardo G Borroni, Camilla Vassallo, Filippo Mangione, Laura Scelsi, Stefano Ghio, Carlo Pellegrini, Marialuisa Zedde, Laura Fancellu, GianPietro Sechi, Antonello Ganau, Stefania Piga, Annarita Colucci, Daniela Concolino, Maria Teresa Di Mascio, Danilo Toni, Marina Diomedi, Claudio Rapezzi, Elena Biagini, Massimiliano Marini, Maurizia Rasura, Maurizio Melis, Antonia Nucera, Donata Guidetti, Michelangelo Mancuso, Umberto Scoditti, Pamela Cassini, Jagat Narula, Luigi Tavazzi, Eloisa Arbustini
BACKGROUND: Anderson-Fabry disease (AFD) is a rare X-linked lysosomal storage disease, caused by defects of the alpha-galactosidase A (GLA) gene. AFD can affect the heart, brain, kidney, eye, skin, peripheral nerves, and gastrointestinal tract. Cardiology (hypertrophic cardiomyopathy), neurology (cryptogenic stroke), and nephrology (end-stage renal failure) screening studies suggest the prevalence of GLA variants is 0.62%, with diagnosis confirmation in 0.12%. OBJECTIVES: This study sought to expand screening from these settings to include ophthalmology, dermatology, gastroenterology, internal medicine, pediatrics, and medical genetics to increase diagnostic yield and comprehensively evaluate organ involvement in AFD patients...
September 6, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27582761/balloon-aortic-valvuloplasty-as-a-bridge-to-decision-in-high-risk-patients-with-aortic-stenosis-a-new-paradigm-for-the-heart-team-decision-making
#20
Francesco Saia, Carolina Moretti, Gianni Dall'Ara, Cristina Ciuca, Nevio Taglieri, Alessandra Berardini, Pamela Gallo, Marina Cannizzo, Matteo Chiarabelli, Niccolò Ramponi, Linda Taffani, Maria Letizia Bacchi-Reggiani, Cinzia Marrozzini, Claudio Rapezzi, Antonio Marzocchi
BACKGROUND: Whilst the majority of the patients with severe aortic stenosis can be directly addressed to surgical aortic valve replacement (AVR) or transcatheter aortic valve implantation (TAVI), in some instances additional information may be needed to complete the diagnostic workout. We evaluated the role of balloon aortic valvuloplasty (BAV) as a bridge-to-decision (BTD) in selected high-risk patients. METHODS: Between 2007 and 2012, the heart team in our Institution required BTD BAV in 202 patients...
September 2016: Journal of Geriatric Cardiology: JGC
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