Zobrazeno 1 - 10
of 1 147
pro vyhledávání: '"Garcia Pavia P"'
Autor:
Pablo Garcia‐Pavia, Neal K. Lakdawala, Gianfranco Sinagra, Tomas Ripoll‐Vera, Kia Afshar, Silvia G. Priori, James S. Ware, Anjali Owens, Huihua Li, Franca S. Angeli, Perry Elliott, Calum A. MacRae, Daniel P. Judge
Publikováno v:
ESC Heart Failure, Vol 11, Iss 6, Pp 4201-4208 (2024)
Abstract Aims LMNA‐related dilated cardiomyopathy (DCM) is a rare disease with an incompletely defined phenotype. The phase 3 REALM‐DCM trial evaluated a potential disease‐modifying therapy for LMNA‐related DCM but was terminated due to futil
Externí odkaz:
https://doaj.org/article/0291e6463c7849418e12a7b72150d7e9
Autor:
Pablo Garcia‐Pavia, Thibaud Damy, Nicolas Piriou, Roberto Barriales‐Villa, Francesco Cappelli, Catherine Bahus, Carmen Munteanu, Denis Keohane, Pablo Mallaina, Perry Elliott, the TTRACK investigators
Publikováno v:
ESC Heart Failure, Vol 11, Iss 6, Pp 4314-4324 (2024)
Abstract Aims Recognition of transthyretin amyloid cardiomyopathy is increasing due to advances in cardiac imaging and diagnostic strategies, but questions remain regarding disease frequency and characteristics. We examined the prevalence and charact
Externí odkaz:
https://doaj.org/article/a46c08c60a214b2f97a31ab3a617b846
Hypertrophic cardiomyopathy due to truncating variants in myosin binding protein C: a Spanish cohort
Autor:
Carles Díez-López, María Luisa Peña-Peña, Hector Bueno, Fernando Arribas Ynsaurriaga, Vicente Climent-Payá, Maria Melendo-Viu, Rafael Salguero-Bodes, María Valverde-Gómez, Jose María Larrañaga-Moreira, Roberto Barriales, Javier Limeres Freire, Pablo Garcia Pavia, Tomas Ripoll, Maria Gallego Delgado, Esther Zorio, Francisco José Bermudez Jimenez, José Manuel García-Pinilla, Irene Méndez Fernández, Maria Sabater-Molina, Ana Perez Asensio, Álvaro Marchán-Lopez, Julián A Palomino Doza
Publikováno v:
Open Heart, Vol 11, Iss 2 (2024)
Background Hypertrophic cardiomyopathy (HCM) is an inherited disorder whose causal variants involve sarcomeric protein genes. One of these is myosin-binding protein C (MYBPC3), being previously associated with a favourable prognosis. Our objective is
Externí odkaz:
https://doaj.org/article/27b906c169754f9bb83a0e76bd6c11bb
Autor:
Fernando de Frutos, Juan Pablo Ochoa, Gregory Webster, Mark Jansen, Paloma Remior, Torsten B. Rasmussen, Maria Sabater‐Molina, Roberto Barriales‐Villa, Francesca Girolami, Sergi Cesar, M. Eugenia Fuentes‐Cañamero, Reyes Alvarez García‐Rovés, Karim Wahbi, Javier Limeres, Milos Kubanek, Martijn G. Slieker, Georgia Sarquella‐Brugada, Dominic J. Abrams, Dennis Dooijes, Fernando Domínguez, Pablo Garcia‐Pavia
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 21 (2024)
Background Although genetic variants in MYH7 are the most frequent cause of pediatric genetic dilated cardiomyopathy (DCM), there are no studies available describing this entity. We sought to describe clinical features, analyze variant location, and
Externí odkaz:
https://doaj.org/article/59e75968bc6945bab7fc180c951c9b2d
Autor:
Caroline J. Coats, Ahmad Masri, Michael E. Nassif, Roberto Barriales‐Villa, Michael Arad, Nuno Cardim, Lubna Choudhury, Brian Claggett, Hans‐Dirk Düngen, Pablo Garcia‐Pavia, Albert A. Hagège, James L. Januzzi, Matthew M. Y. Lee, Gregory D. Lewis, Chang‐Sheng Ma, Martin S. Maron, Zi Michael Miao, Michelle Michels, Iacopo Olivotto, Artur Oreziak, Anjali T. Owens, John A. Spertus, Scott D. Solomon, Jacob Tfelt‐Hansen, Marion van Sinttruije, Josef Veselka, Hugh Watkins, Daniel L. Jacoby, Polina German, Stephen B. Heitner, Stuart Kupfer, Justin D. Lutz, Fady I. Malik, Lisa Meng, Amy Wohltman, Theodore P. Abraham
Publikováno v:
Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, Vol 13, Iss 15 (2024)
Background Aficamten, a novel cardiac myosin inhibitor, reversibly reduces cardiac hypercontractility in obstructive hypertrophic cardiomyopathy. We present a prespecified analysis of the pharmacokinetics, pharmacodynamics, and safety of aficamten in
Externí odkaz:
https://doaj.org/article/ecd7f5b3949f4a8ca276c42cd7292a3f
Autor:
Nerea Mora-Ayestaran, MD, Angela Dispenzieri, MD, Arnt V. Kristen, MD, Mathew S. Maurer, MD, Igor Diemberger, MD, Brian M. Drachman, MD, Martha Grogan, MD, Pritam Gupta, PhD, Oliver Glass, PhD, Leslie Amass, PhD, Pablo Garcia-Pavia, MD, PhD, Michele Emdin, Mazen Hanna, Olga Azevedo, Calogero Lino Cirami, Jose Gonzalez Costello, David Slosky, Henning Moelgaard, Jose Nativi Nicolau, Scott Hummel, Eun-Seok Jeon, Nowell Fine, Srinivas Murali, Edward Miller, Sanjiv Shah, Ronald Witteles, Marcia Waddington-Cruz, Daniel Lenihan, Yoshiki Sekijima, Johan Van Cleemput, Edileide de Barros Correia, Eve Cariou, Dianna Quan, Miriam Freimer, David Steidley, Anna Hüsing-Kabar, Violaine Plante-Bordeneuve, Hans Nienhuis, Jonas Wixner, Jeffrey Ralph, Hector Ventura, Sasa Zivkovic, Diego Delgado, Roberto Fernandéz Torrón, Stephen Gottlieb, William Cotts, Jose Tallaj, Robert Brunkhorst, Michael Polydefkis, Christopher Mueller, Carsten Tschoepe, Juan Gonzalez Moreno, Nitasha Sarswat, Jin Luo, James Tauras, Alberta Warner
Publikováno v:
JACC: Advances, Vol 3, Iss 8, Pp 101086- (2024)
Background: Wild-type transthyretin amyloidosis (ATTRwt amyloidosis) is primarily diagnosed in elderly men but diagnoses in younger patients and women have recently increased. Objectives: The purpose of this study was to examine age- and sex-related
Externí odkaz:
https://doaj.org/article/dc542adf430b4e7fb29d0bce4d17c600
Autor:
Juan González-Moreno, Angela Dispenzieri, Martha Grogan, Teresa Coelho, Ivailo Tournev, Márcia Waddington-Cruz, Jonas Wixner, Igor Diemberger, Pablo Garcia-Pavia, Doug Chapman, Pritam Gupta, Oliver Glass, Leslie Amass, the THAOS investigators
Publikováno v:
Cardiology and Therapy, Vol 13, Iss 1, Pp 117-135 (2023)
Abstract Introduction Transthyretin amyloidosis (ATTR amyloidosis) is primarily associated with a cardiac or neurologic phenotype, but a mixed phenotype is increasingly described. Methods This study describes the mixed phenotype cohort in the Transth
Externí odkaz:
https://doaj.org/article/21e307b3d7f64d4388aae45efd6d31e5
Autor:
Luca Gentile, Teresa Coelho, Angela Dispenzieri, Isabel Conceição, Márcia Waddington-Cruz, Arnt Kristen, Jonas Wixner, Igor Diemberger, Juan Gonzalez-Moreno, Eve Cariou, Mathew S. Maurer, Violaine Planté-Bordeneuve, Pablo Garcia-Pavia, Ivailo Tournev, Jose Gonzalez-Costello, Alejandra Gonzalez Duarte, Martha Grogan, Anna Mazzeo, Doug Chapman, Pritam Gupta, Oliver Glass, Leslie Amass, the THAOS investigators
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Abstract Background Transthyretin amyloidosis (ATTR amyloidosis) is a progressive, multisystemic, life-threatening disease resulting from the deposition of variant or wild-type (ATTRwt amyloidosis) transthyretin amyloid fibrils in various tissues and
Externí odkaz:
https://doaj.org/article/f0832100674d4cab8c8856c8ba65b280
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