Published articles in 2021

Cardiología

Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure.

Mohammed Majid Akhtar, MD; Massimiliano Lorenzini, MD; Menelaos Pavlou, PhD; Juan Pablo Ochoa, MD; et al.

JAMA Cardiol. Published online May 12, 2021. doi:10.1001/jamacardio.2021.1106, 2021;

Cardiología

Dilated cardiomyopathy and mild limb girdle muscular dystrophy caused by the p.Gly424Ser genetic variant in the fukutin gene.

José M. Larrañaga Moreira; Patricia Blanco Arias; Beatriz San Millán Tejado; Gonzalo Barge Caballero; María G.Crespo Leiro; Roberto Barriales Villa.

Revista Española de Cardiología, 2021, ISSN 0300-8932. https://doi.org/10.1016/j.recesp.2021.04.001, 2021;

Cardiología

A cryptic splice-altering KCNQ1 variant in trans with R259L leading to Jervell and Lange-Nielsen syndrome.

Mario Torrado, Germán Fernández, Christian A. Ganoza, Emilia Maneiro, Diego García, Natalia Sonicheva-Paterson, Isaac Rosa, Juan Pablo Ochoa, Luis Santomé, Elena Vasichkina and Lorenzo Monserrat.

npj Genomic Medicine (2021) 6:21; https://doi.org/10.1038/s41525-021-00183-y, 2021;

Cardiología

Risk predictors in a Spanish cohort with cardiac laminopathies. The REDLAMINA registry.

Roberto Barriales Villa, Juan P. Ochoa, José M. Larrañaga Moreira, Joel Salazar Mendiguchía, Carles Díez López, et al.

Rev Esp Cardiol. 2021;74:208-910.1016/j.rec.2020.09.021, 2021;

Cardiología

Electrocardiogram Changes in the Spectrum of TTNtv Dilated Cardiomyopathy: Accuracy and Predictive Value of a New Index for LV-Changes Identification.

María Valverde Gómez MD, Aníbal Ruiz Curiel MD, María Melendo Viu MD, Rafael Salguero Bodes MD, Cristina Martín Arriscado MSc, Héctor Bueno MD, PhD, Carmen Jiménez López Guarch MD, PhD, Paula Rebolo Bardanca MSc, et al.

Heart, Lung and Circulation. Available online 14 May 2021, 2021;

Oncología

Retinoblastoma and mosaic 13q deletion: a case report.

Pablo Gargallo, Silvestre Oltra, Julia Balaguer, Honorio Barranco, Yania Yáñez, Vanessa Segura, Antonio Juan-Ribelles, Inés Calabria, Margarita Llavador, Victoria Castel y Adela Cañete

International Journal of Retina and Vitreous volume 7, Article number: 50 (2021)., 2021;

Neurología

Muscle weakness, joint laxity and keloids. A more than suggestive association.

Martínez-Martín Á., Díaz-Maroto Cicuéndez I., Simón Sánchez J., García-García J.

Neurologia. 2021 Apr;36(3):243-245. English, Spanish. doi: 10.1016/j.nrl.2020.05.001. Epub 2020 Jun 16. PMID: 32553462, 2021;

Cardiología

Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure.

Mohammed Majid Akhtar, MD; Massimiliano Lorenzini, MD; Menelaos Pavlou, PhD; Juan Pablo Ochoa, MD; et al.

JAMA Cardiol. Published online May 12, 2021. doi:10.1001/jamacardio.2021.1106, 2021;

Published articles in 2020

Cardiología

Verification of Underlying Genetic Cause in a Cohort of Russian Patients with Familial Hypercholesterolemia Using Targeted Next Generation Sequencing.

Anna E. Semenova, Igor V. Sergienko1, Diego García-Giustiniani, Lorenzo Monserrat, Anna B. Popova, Diana N. Nozadze and Marat V. Ezhov.

J. Cardiovasc. Dev. Dis.2020,7, 16; doi:10.3390/jcdd7020016, 2020;

Cardiología

Preventing Sudden Death in Arrhythmogenic Cardiomyopathy: Careful Family and Genetic Evaluation Key to Appropriate Diagnosis and Management.

Martín Ortiz Genga MD, Soledad García Hernández MD, Lorenzo Monserrat Iglesias MD, William J.McKenna MD.

Canadian Journal of Cardiology, Available online 5 December 2020, Pages., 2020;

Cardiología

Novel Filamin C missense mutation associated with severe restrictive cardiomyopathy overlapping with left ventricular non-compaction.

S Garcia Hernandez, M Ortiz-Genga, K Analia Ramos, J.P Ochoa, A Lamounier, X Fernandez, I Cardenas, D Garcia-Giustiniani, M.N Brogger, M.N Cicerchia, G Fernandez, L Monserrat.

European Heart Journal, Volume 41, Issue Supplement_2, November 2020, ehaa946.3714, https://doi.org/10.1093/ehjci/ehaa946.3714. Published: 25 November 2020., 2020;

Cardiología

Protein haploinsufficiency drivers identify MYBPC3 mutations that cause hypertrophic cardiomyopathy.

Carmen Suay-Corredera, Maria Rosaria Pricolo, Elías Herrero-Galán, Diana Velázquez-Carreras, David Sánchez-Ortiz, Diego García-Giustiniani, Javier Delgado, Juan José Galano-Frutos, Helena García-Cebollada, Silvia Vilches, Fernando Domínguez, María Sabater Molina, Roberto Barriales-Villa, Giulia Frisso, Javier Sancho, Luis Serrano, Pablo García-Pavía, Lorenzo Monserrat, Jorge Alegre-Cebollada.

doi: https://doi.org/10.1101/2020.05.04.20087726, 2020;

Cardiología

The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals.

Joel Salazar-Mendiguchía; Roberto Barriales-Villa; Luis R.Lopes; Juan P.Ochoa; Alejandro Rodríguez Vilela; Julián Palomino Doza; José M.Larrañaga Moreira; Marcos Cicerchia; Ivonne Cárdenas Reyes; Diego García-Giustiniani; Noël Brögger; Germán Fernández; Soledad García; Lisi Santiago; Paula Vélez; Martín Ortiz Genga; Perry M.Elliott; Lorenzo Monserrat.

Received 25 May 2020, Revised 6 September 2020, Accepted 29 September 2020, Available online 7 October 2020., 2020;

Cardiología

Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene.

Mohammed Majid Akhtar, Massimiliano Lorenzini, Marcos Cicerchia, Juan Pablo Ochoa, Thomas Morris Hey, Maria Sabater Molina, Maria Alejandra Restrepo-Cordoba, et al.

Originally published23 Sep 2020. https://doi.org/10.1161/CIRCHEARTFAILURE.119.006832Circulation: Heart Failure. 2020;13., 2020;

Cardiología

Clinical utility of genetic testing in patients with dilated cardiomyopathy.

Arsonval Lamounier, Juan Pablo Trujillo, Diego Garcia-Giustiniani, Xusto Fernandez, Martin Ortiz-Genga, Lorenzo Monserrat, Maria Generosa Crespo-Leiro

10.1016/j.medcli.2020.05.067. Med Clin. 2021;156:485-95., 2020;

Cardiología

Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers.

Massimiliano Lorenzini, MD, PhD, Gabrielle Norrish, MD, Ella Field, BSc, Juan Pablo Ochoa, MD, et al.

J Am Coll Cardiol. 2020 Aug 4; 76(5): 550–559. doi: 10.1016/j.jacc.2020.06.011., 2020;

Cardiología

Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.

Angela Lopez Sainz MD, PhD, Fernando Dominguez MD, PhD, Luis Rocha Lopes MD, PhD, Juan Pablo Ochoa MD, Roberto Barriales Villa MD, et al.

Journal of the American College of Cardiology, Volume 76, Issue 2, 14 July 2020, Pages 198-200., 2020;

Cardiología

Mutations in TRIM63 cause an autosomal-recessive form of hypertrophic cardiomyopathy.

Joel Salazar-Mendiguchía, Juan Pablo Ochoa, Julian Palomino-Doza, Fernando Domínguez, Carles Díez-López, Mohammed Akhtar, Soraya Ramiro-León, María M Clemente, Antonia Pérez-Cejas, María Robledo, Iria Gómez-Díaz, María Luisa Peña-Peña, Vicente Climent, Francisco Salmerón-Martínez, Celestino Hernández, Pablo E García-Granja, M Victoria Mogollón, Ivonne Cárdenas-Reyes, Marcos Cicerchia, Diego García-Giustiniani, Arsonval Lamounier Jr., et al.

Heart. 2020 Sep; 106(17): 1342–1348. Published online 2020 May 25. doi: 10.1136/heartjnl-2020-316913., 2020;

Cardiología

Cryptic Splice-Altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy.

Luis R. Lopes, Pedro Barbosa, Mario Torrado, Ellie Quinn, Ana Merino, Juan Pablo Ochoa, Joanna Jager, et al.

Originally published12 May 2020. https://doi.org/10.1161/CIRCGEN.120.002905Circulation: Genomic and Precision Medicine. 2020;13:e002905., 2020;

Cardiología

Prognostic implications of pathogenic truncating variants in the TTN gene.

Maria Luisa Peña Peña, Juan Pablo Ochoa, Roberto Barriales Villa, Marcos Cicerchia, Julián Palomino Doza, Joel Salazar Mendiguchía, Arsonval Lamounier, Juan Pablo Trujillo, Diego Garcia-Giustiniani, Xusto Fernandez, et al.

International Journal of Cardiology, Volume 316, 1 October 2020, Pages 186-187., 2020;

Cardiología

Deletions of specific exons of FHOD3 detected by next-generation sequencing are associated with hypertrophic cardiomyopathy.

Juan P. Ochoa, Luis R. Lopes, Marlene Perez-Barbeito, Laura Cazón Varela, Maria M. de la Torre Carpente, Natalia Sonicheva-Paterson, David De Uña Iglesias, Ellen Quinn, et al.

Received: 14 March 2020. Revised: 16 April 2020. Accepted: 17 April 2020. DOI: 10.1111/cge.13759., 2020;

Farmacogenética

Pharmacogenomics and Cardiovascular Disease: Where are We and Where do We go from Here?.

Ricardo Stein, Thaís Beuren, Luis Ramudo Cela, Filipe Ferrari.

Arq. Bras. Cardiol. 2020; 115(4): 690-700. DOI: 10.36660/abc.20200151, 2020;

Farmacogenética

Desarrollo y validación de un panel de secuenciación masiva en paralelo para farmacogenética clínica.

Luis Ramudo Cela, Jesús María López Martí, Daniel Colmeiro Echeberría, David de Uña Iglesias, José Luis Santomé Collazo, Lorenzo Monserrat Iglesias.

DOI: http://dx.doi.org/10.7399%2Ffh.11353, 2020;

Published articles in 2019

Cardiología

Incomplete Mass Phenotype: Description of a New Pathogenic Variant of the Fibrillin-1 Gene.

Piqueras-Flores J, Trujillo-Quintero JP, Frías-García R, González-Marín MA, Monserrat L, Hernández-Herrera G.

Rev Esp Cardiol (Engl Ed). 2019 Apr 30., 2019;

Cardiología

Direct CDKN2 Modulation of CDK4 Alters Target Engagement of CDK4 Inhibitor Drugs.

Green JL, Okerberg ES, Sejd J, Palafox M, Monserrat L, Alemayehu S1, Wu J, Sykes M, Aban A, Serra V, Nomanbhoy T.

Mol Cancer Ther. 2019 Apr., 2019;

Cardiología

Risk Stratification in Patients With Nonisquemic Dilated Cardiomyopathy. The Role of Genetic Testing.

Peña-Peña ML, Monserrat L.

Rev Esp Cardiol (Engl Ed). 2019 Apr., 2019;

Cardiología

Yield of Clinical Screening for Hypertrophic Cardiomyopathy in Child First-Degree Relatives: Evidence for a Change in Paradigm.

Norrish G, Jager J, Field E, Quinn E, Fell H, Lord E, Cicerchia MN, Ochoa JP, Cervi E, Elliott PM, Kaski JP.

Circulation. 2019 Apr 22., 2019;

Cardiología

Electrophysiological abnormalities in induced pluripotent stem cell-derived cardiomyocytes generated from Duchenne muscular dystrophy patients.

Eisen B, Ben Jehuda R, Cuttitta AJ, Mekies LN, Shemer Y, Baskin P, Reiter I, Willi L, Freimark D, Gherghiceanu M, Monserrat L, Scherr M, Hilfiker-Kleiner D, Arad M, Michele DE, Binah O.

J Cell Mol Med. 2019 Mar, 2019;

Cardiología

Response by Sheikh et al to Letter Regarding Article, ‘Diagnostic Yield of Genetic Testing in Young Athletes With T-Wave Inversion’.

Sheikh N, Papadakis M, Wilson M, Malhotra A, Adamuz C, Homfray T, Monserrat L, Behr ER, Sharma S.

Circulation. 2019 Feb 12., 2019;

Cardiología

Exploring Haploinssuficiency Drivers in a Set of cMyBP-C Missense Mutations Causing Hypertrophic Cardiomyopathy.

Carmen Suay-corredera, Maria R Pricolo, Elías Herrero-Galán, Diana Velázquez-Carreras, David Sánchez-Ortiz, Diego García-Giustiniani, Javier Delgado, Silvia Vilches, Fernando Domínguez, Roberto Barriales-Villa, Giulia Frisso, Luis Serrano, Pablo García-Pavia, Lorenzo Monserrat, Jorge Alegre-Cebollada

Originally published 16 Oct 2019. https://doi.org/10.1161/res.125.suppl_1.471Circulation Research. 2019;125:A471, 2019;

Neurología

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy.

Servián-Morilla E, Cabrera-Serrano M, Rivas-Infante E, Carvajal A, Lamont PJ, Pelayo-Negro AL, Ravenscroft G, Junckerstorff R, Dyke JM, Fletcher S, Adams AM, Mavillard F, Fernández-García MA, Nieto-González JL, Laing NG, Paradas C.

Acta Neuropathol Commun. 2019 Mar 1;7(1):30. doi: 10.1186/s40478-019-0683-9. PMID: 30823891; PMCID: PMC6396567., 2019;

Hematología

Earlier relapse detection after allogeneic haematopoietic stem cell transplantation by chimerism assays: Digital PCR versus quantitative real-time PCR of insertion/deletion polymorphisms.

Jennifer Valero-Garcia, María del Carmen González-Espinosa, Manuel Barrios, Greta Carmona-Antoñanzas, Javier García-Planells, Carlos Ruiz-Lafora, Ainhoa Fuentes-Gálvez, Antonio Jiménez-Velasco.

Plos One. Published: February 22, 2019. https://doi.org/10.1371/journal.pone.0212708, 2019;

Published articles in 2018

Cardiología

Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia.

Bermúdez-Jiménez FJ, Carriel V, Brodehl A, Alaminos M, Campos A, Schirmer I, Milting H, Abril BÁ, Álvarez M, López-Fernández S, García-Giustiniani D, Monserrat L, Tercedor L, Jiménez-Jáimez J.

Circulation. 2018 Apr 10., 2018;

Cardiología

Differential diagnosis of thickened myocardium: an illustrative MRI review.

Méndez C, Soler R, Rodríguez E, Barriales R, Ochoa JP, Monserrat L.

Insights Imaging. 2018 Oct 9., 2018;

Cardiología

Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy.

Juan Pablo Ochoa, María Sabater-Molina, José Manuel García-Pinilla, Jens Mogensen, Alejandra Restrepo-Córdoba, Julián Palomino-Doza, Eduardo Villacorta, Marina Martinez-Moreno, Javier Ramos-Maqueda, Esther Zorio, Maria L Peña-Peña, Pablo E García-Granja, José F Rodríguez-Palomares, Ivonne J Cárdenas-Reyes, María M de la Torre-Carpente, Alicia Bautista-Pavés, Mohammed M Akhtar, Marcos N Cicerchia, Raquel Bilbao-Quesada, Maria Victoria Mogollón-Jimenez, Joel Salazar-Mendiguchía, José M Mesa Latorre, Blanca Arnaez, Ivan Olavarri-Miguel, María E Fuentes-Cañamero, Arsonval Lamounier Jr, José María Pérez Ruiz, Vicente Climent-Payá, Inmaculada Pérez-Sanchez, Juan P Trujillo-Quintero, Luis R Lopes, Alfredo Repáraz-Andrade, Rosario Marín-Iglesias, Alejandro Rodriguez-Vilela, María Sandín-Fuentes, Jose A Garrote, Alejandro Cortel-Fuster, Miguel Lopez-Garrido, Ana Fontalba-Romero, Tomás Ripoll-Vera, Isabel Llano-Rivas, Xusto Fernandez-Fernandez, María Isidoro-García, Diego Garcia-Giustiniani, Roberto Barriales-Villa, Martín Ortiz-Genga, Pablo García-Pavía, Perry M Elliott, Juan R Gimeno, Lorenzo Monserrat.

J Am Coll Cardiol. 2018 Nov 13;72(20):2457-2467. doi: 10.1016/j.jacc.2018.10.001., 2018;

Cardiología

Usefulness of genetic diagnosis in a woman with hypertrophic cardiomyopathy and the desire for motherhood: information is key.

Roberto Barriales-Villa, Diego A García-Giustiniani, Martin Ortiz-Genga, Lorenzo Monserrat.

Rev Esp Cardiol (Engl Ed). 2014 Apr;67(4):333-4. doi: 10.1016/j.rec.2013.11.014. Epub 2014 Mar 7., 2018;

Cardiología

Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations.

Fernando Domínguez, Sofía Cuenca, Zofia Bilińska, Rocío Toro, Eric Villard, Roberto Barriales-Villa, Juan Pablo Ochoa, Folkert Asselbergs, Arjan Sammani, Maria Franaszczyk, Mohammed Akhtar, Maria José Coronado-Albi, Diego Rangel-Sousa, Jose F. Rodriguez-Palomares, Juan Jiménez-Jáimez, José Manuel Garcia-Pinilla, Tomás Ripoll-Vera, Maria Victoria Mogollón-Jiménez, Ana Fontalba-Romero, Dolores Garcia-Medina, Julian Palomino-Doza, David de Gonzalo-Calvo, Marcos Cicerchia, Joel Salazar-Mendiguchia, Clara Salas, Sabine Pankuweit, Thomas Morris Hey, Jens Mogensen, Paul J. Barton, Philippe Charron, Perry Elliott, Pablo Garcia-Pavia, for the European Genetic Cardiomyopathies Initiative Investigators, Hans Eiskjær, Roberto Barriales, Xusto Fernández Fernández, et al.

2018 American College of Cardiology Foundation., 2018;

Cardiología

A Novel Heterozygous Intronic Mutation in the FBN1 Gene Contributes to FBN1 RNA Missplicing Events in the Marfan Syndrome.

Torrado M, Maneiro E, Trujillo-Quintero JP, Evangelista A, Mikhailov AT, Monserrat L.

Biomed Res Int. 2018 May 29., 2018;

Cardiología

Computerized registry of patients with hemorrhagic hereditary telangiectasia (RiHHTa Registry) in Spain: Objectives, methods, and preliminary results.

Riera-Mestre A, Mora Luján JM, Sanchez Martínez R, Torralba Cabeza MA, Patier de la Peña JL, Juyol Rodrigo MC, Lopez Wolf D, Ojeda Sosa A, Monserrat L, López Rodríguez M; en representación de los Investigadores del Registro RiHHTa; Miembros del Registro RiHHTa del Grupo de Trabajo en Enfermedades Minoritarias de la Sociedad Española de Medicina Interna.

Rev Clin Esp. 2018 Sep 1., 2018;

Cardiología

The effect of enzyme replacement therapy on clinical outcomes in paediatric patients with Fabry disease – A systematic literature review by a European panel of experts.

Spada M, Baron R, Elliott PM, Falissard B, Hilz MJ, Monserrat L, Tøndel C, Tylki-Szymańska A, Wanner C, Germain DP.

Mol Genet Metab. 2018 Apr 26., 2018;

Cardiología

Diagnostic Yield of Genetic Testing in Young Athletes with T-wave Inversion.

Sheikh N, Papadakis M, Wilson M, Malhotra A, Adamuz C, Homfray T, Monserrat L, Behr ER, Sharma S.

Circulation. 2018 May 15., 2018;

Cardiología

Interplay Between Genetic Substrate, QTc Duration, and Arrhythmia Risk in Patients With Long QT Syndrome.

Mazzanti A, Maragna R, Vacanti G, Monteforte N, Bloise R, Marino M, Braghieri L, Gambelli P, Memmi M, Pagan E, Morini M, Malovini A, Ortiz M, Sacilotto L, Bellazzi R, Monserrat L, Napolitano C, Bagnardi V, Priori SG.

J Am Coll Cardiol. 2018 Apr 17., 2018;

Neurología

Non-compaction cardiomyopathy and early respiratory failure in an adult symptomatic female carrier of centronuclear myopathy caused by a MTM1 mutation.

García-García J, Fernández-García MA, Blanco-Arias P, Díaz-Maroto-Cicuendez MI, Salmerón-Martínez F, Hidalgo-Olivares VM, Olivé M.

Neuromuscul Disord. 2018 Nov;28(11):952-955. doi: 10.1016/j.nmd.2018.08.003. Epub 2018 Aug 13. PMID: 30241883., 2018;

Published articles in 2017

Cardiología

Modulation of SHBG binding to testosterone and estradiol by sex and morbid obesity.

Grasa MD, Gulfo J, Camps N, Alcalá R, Monserrat L, Moreno-Navarrete JM, Ortega FJ, Esteve M, Remesar X, Fernández-López JA, Fernández-Real JM, Alemany M.

Eur J Endocrinol. 2017 Apr., 2017;

Cardiología

Effect of age on pro-inflammatory miRNAs contained in mesenchymal stem cell-derived extracellular vesicles.

Fafián-Labora J, Lesende-Rodriguez I, Fernández-Pernas P, Sangiao-Alvarellos S, Monserrat L, Arntz OJ, van de Loo FJ, Mateos J, Arufe MC.

Sci Rep. 2017 Mar 6., 2017;

Cardiología

Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy.

Dal Ferro M, Stolfo D, Altinier A, Gigli M, Perrieri M, Ramani F, Barbati G, Pivetta A, Brun F, Monserrat L, Giacca M, Mestroni L, Merlo M, Sinagra G.

Heart. 2017 Nov., 2017;

Cardiología

Corrigendum: Effect of age on pro-inflammatory miRNAs contained in mesenchymal stem cell-derived extracellular vesicles.

Fafián-Labora J, Lesende-Rodriguez I, Fernández-Pernas P, Sangiao-Alvarellos S, Monserrat L, Arntz OJ, van de Loo FAJ, Mateos J, Arufe MC.

Sci Rep. 2017 Jun 15., 2017;

Cardiología

Clinical Exome Sequencing: Results from 2819 Samples Reflecting 1000 Families.

Trujillano D, Bertoli-Avella AM, Kumar Kandaswamy K, Weiss ME, Köster J, Marais A, Paknia O, Schröder R, Garcia-Aznar JM, Werber M, Brandau O, Calvo Del Castillo M, Baldi C, Wessel K, Kishore S, Nahavandi N, Eyaid W, Al Rifai MT, Al-Rumayyan A, Al-Twaijri W, Alothaim A, Alhashem A, Al-Sannaa N, Al-Balwi M, Alfadhel M, Rolfs A, Abou Jamra R.

Eur J Hum Genet. 2017, 2017;

Cardiología

Direct Oral Anticoagulants in Patients with Hypertrophic Cardiomyopathy and Atrial Fibrillation.

Fernando Dominguez, Vicente Climent, Esther Zorio, Tomás Ripoll-Vera, Joel Salazar-Mendiguchía, Jose Manuel García-Pinilla, Jose Angel Urbano-Moral, Xusto Fernández-Fernández, David Lopez-Cuenca, Raquel Ajo-Ferrer, Jorge Sanz-Sanchez, Yolanda Gomez-Perez, Miguel A. López-Garrido, Roberto Barriales-Villa, Juan Ramón Gimeno, Pablo Garcia-Pavia.

In Press, Accepted Manuscript, Available online 7 August 2017, 2017;

Published articles in 2016

Cardiología

Inverted U-Shaped Relation Between the Risk of Sudden Cardiac Death and Maximal Left Ventricular Wall Thickness in Hypertrophic Cardiomyopathy.

O’Mahony C, Jichi F, Monserrat L, Ortiz-Genga M, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, McKenna WJ, Omar RZ, Elliott PM; Hypertrophic Cardiomyopathy Outcomes Investigators*.

Circ Arrhythm Electrophysiol. 2016 Jun, 2016;

Cardiología

Genetics of Dyslipidemia.

García-Giustiniani D, Stein R.

Arq Bras Cardiol. 2016 May, 2016;

Cardiología

Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies.

Ortiz-Genga MF, Cuenca S, Dal Ferro M, Zorio E, Salgado-Aranda R, Climent V, Padrón-Barthe L, Duro-Aguado I, Jiménez-Jáimez J, Hidalgo-Olivares VM, García-Campo E, Lanzillo C, Suárez-Mier MP, Yonath H, Marcos-Alonso S, Ochoa JP, Santomé JL, García-Giustiniani D, Rodríguez-Garrido JL, Domínguez F, Merlo M, Palomino J, Peña ML, Trujillo JP, Martín-Vila A, Stolfo D, Molina P, Lara-Pezzi E, Calvo-Iglesias FE, Nof E, Calò L, Barriales-Villa R, Gimeno-Blanes JR, Arad M, García-Pavía P, Monserrat L.

J Am Coll Cardiol. 2016 Dec 6, 2016;

Cardiología

Predictors of Atrial Fibrillation in Hypertrophic Cardiomyopathy.

Guttmann OP, Pavlou M, O’Mahony C, Monserrat L, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, Garcia-Pavia P, McKenna WJ, Omar RZ, Elliott PM; Hypertrophic Cardiomyopathy Outcomes Investigators.

Heart. 2016 Oct 28, 2016;

Cardiología

Idiopathic Restrictive Cardiomyopathy Is Primarily a Genetic Disease.

Gallego-Delgado M, Delgado JF, Brossa-Loidi V, Palomo J, Marzoa-Rivas R, Perez-Villa F, Salazar-Mendiguchía J, Ruiz-Cano MJ, Gonzalez-Lopez E, Padron-Barthe L, Bornstein B, Alonso-Pulpon L, Garcia-Pavia P.

J Am Coll Cardiol. 2016 Jun 28, 2016;

Cardiología

European Cardiomyopathy Pilot Registry: EURObservational Research Programme of the European Society of Cardiology.

Guttmann OP, Pavlou M, O’Mahony C, Monserrat L, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, Garcia-Pavia P, McKenna WJ, Omar RZ, Elliott PM; Hypertrophic Cardiomyopathy Outcomes Investigators.

Eur Heart J. 2016 Jan 7, 2016;

Cardiología

Genetic Basis of Familial Dilated Cardiomyopathy Patients Undergoing Heart Transplantation.

Cuenca S, Ruiz-Cano MJ, Gimeno-Blanes JR, Jurado A, Salas C, Gomez-Diaz I, Padron-Barthe L, Grillo JJ, Vilches C, Segovia J, Pascual-Figal D, Lara-Pezzi E, Monserrat L, Alonso-Pulpon L, Garcia-Pavia P; Inherited Cardiac Diseases Program of the Spanish Cardiovascular Research Network (Red Investigación Cardiovascular).

J Heart Lung Transplant. 2016, 2016;

Cardiología

Calmodulin 2 Mutation N98S Is Associated with Unexplained Cardiac Arrest in Infants Due to Low Clinical Penetrance Electrical Disorders.

Jiménez-Jáimez J, Palomino Doza J, Ortega Á, Macías-Ruiz R, Perin F, Rodríguez-Vázquez Del Rey MM, Ortiz-Genga M, Monserrat L, Barriales-Villa R, Blanca E, Álvarez M, Tercedor L.

PLoS One. 2016, 2016;

Cardiología

The Structural Effects of Mutations Can Aid in Differential Phenotype Prediction of Beta-Myosin Heavy Chain (Myosin-7) Missense Variants.

Al-Numair NS, Lopes L, Syrris P, Monserrat L, Elliott P, Martin AC.

Bioinformatics. 2016 Oct 1, 2016;

Cardiología

Validation of the 2014 European Society of Cardiology Sudden Cardiac Death Risk Prediction Model in Hypertrophic Cardiomyopathy in a Reference Center in South America.

Fernández A, Quiroga A, Ochoa, JP, Mysuta, M., Casabé, J. H., Biagetti, M., (…)Galizio, N.

The American Journal of Cardiology 2016, 2016;

Cardiología

Genetic Evaluation, Familial Screening and Exercise.

Stein, R.; Trujillo JP.; Silveira A.; Lamounier Jr, A.; Monserrat-Iglesias L.

Arquivos Brasileiros de Cardiologia. 2016, 2016;

Cardiología

Extensa Familia con Síndrome de Marfan en la que se Demuestra la Patogenicidad de una Variante «Sinónima» (p.Ile2118=) en el Gen de la Fibrilina 1.

Trujillo-Quintero JP, Herrera-Noreña JM, Mosquera-Rodríguez VX, Fernández-Fernández X, Vázquez-Rodríguez JM, Barriales-Villa R.

Rev Esp Cardiol., 31 October 2016, 2016;

Published articles in 2015

Cardiología

Diagnostic Approach to Unexplained Cardiac Arrest (from the FIVI-Gen Study).

Jiménez-Jáimez J, Peinado R, Grima EZ, Segura F, Moriña P, Sánchez Muñoz JJ, Mazuelos F, Cózar R, Gimeno JR, Heras RP, Monserrat L, Domingo D, Ortiz-Genga M, Fernández Pastor J, Álvarez M, Tercedor L.

Am J Cardiol. 2015 Sep 15, 2015;

Cardiología

Prediction of Thrombo-Embolic Risk in Patients with Hypertrophic Cardiomyopathy (HCM Risk-CVA).

Guttmann OP, Pavlou M, O’Mahony C, Monserrat L, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, Garcia-Pavia P, McKenna WJ, Omar RZ, Elliott PM; Hypertrophic Cardiomyopathy Outcomes Investigators.

Eur J Heart Fail. 2015 Aug, 2015;

Cardiología

Phenotype and Prognostic Correlations of the Converter Region Mutations Affecting the Β Myosin Heavy Chain.

García-Giustiniani D, Arad M, Ortíz-Genga M, Barriales-Villa R, Fernández X, Rodríguez-García I, Mazzanti A, Veira E, Maneiro E, Rebolo P, Lesende I, Cazón L, Freimark D, Gimeno-Blanes JR, Seidman C, Seidman J, McKenna W, Monserrat L.

Heart. 2015 Jul, 2015;

Cardiología

Atlas of the Clinical Genetics of Human Dilated Cardiomyopathy.

Haas J, Frese KS, Peil B, Kloos W, Keller A, Nietsch R, Feng Z, Müller S, Kayvanpour E, Vogel B, Sedaghat-Hamedani F, Lim WK, Zhao X, Fradkin D, Köhler D, Fischer S, Franke J, Marquart S, Barb I, Li DT, Amr A, Ehlermann P, Mereles D, Weis T, Hassel S, Kremer A, King V, Wirsz E, Isnard R, Komajda M, Serio A, Grasso M, Syrris P, Wicks E, Plagnol V, Lopes L, Gadgaard T, Eiskjær H, Jørgensen M, Garcia-Giustiniani D, Ortiz-Genga M, Crespo-Leiro MG, Deprez RH, Christiaans I, van Rijsingen IA, Wilde AA, Waldenstrom A, Bolognesi M, Bellazzi R, Mörner S, Bermejo JL, Monserrat L, Villard E, Mogensen J, Pinto YM, Charron P, Elliott P, Arbustini E, Katus HA, Meder B.

Eur Heart J. 2015 May 7, 2015;

Cardiología

Novel Genotype-Phenotype Associations Demonstrated by High-Throughput Sequencing in Patients with Hypertrophic Cardiomyopathy.

Lopes LR, Syrris P, Guttmann OP, O’Mahony C, Tang HC, Dalageorgou C, Jenkins S, Hubank M, Monserrat L, McKenna WJ, Plagnol V, Elliott PM.

Heart. 2015 Feb, 2015;

Cardiología

The Alpha-galactosidase A p.Arg118Cys Variant Does Not Cause a Fabry Disease Phenotype: Data from Individual Patients and Family Studies.

Ferreira S, Ortiz A, Germain DP, Viana-Baptista M, Caldeira-Gomes A, Camprecios M, Fenollar-Cortés M, Gallegos-Villalobos Á, Garcia D, García-Robles JA, Egido J, Gutiérrez-Rivas E, Herrero JA, Mas S, Oancea R, Péres P, Salazar-Martín LM, Solera-Garcia J, Alves H, Garman SC, Oliveira JP.

Mol Genet Metab. 2015 Feb, 2015;

Cardiología

Genetics of Cardiomyopathies: Novel Perspectives with Next Generation Sequencing.

Monserrat L, Ortiz-Genga M, Lesende I, Garcia-Giustiniani D, Barriales-Villa R, de Una-Iglesias D, Syrris P, Castro-Beiras A.

Curr Pharm Des. 2015, 2015;

Cardiología

A Mutation in the Z-Line Cypher/ZASP Protein Is Associated with Arrhythmogenic Right Ventricular Cardiomyopathy.

Lopez-Ayala JM, Ortiz-Genga M, Gomez-Milanes I, Lopez-Cuenca D, Ruiz-Espejo F, Sanchez-Munoz JJ, Oliva-Sandoval MJ, Monserrat L, Gimeno JR.

Clin Genet. 2015 Aug, 2015;

Cardiología

Prognostic Role of Stress Echocardiography in Hypertrophic Cardiomyopathy: The International Stress Echo Registry.

Ciampi Q, Olivotto I, Gardini C, Mori F, Peteiro J, Monserrat L, Fernandez X, Cortigiani L, Rigo F, Lopes LR, Cruz I, Cotrim C, Losi M, Betocchi S, Beleslin B, Tesic M, Dikic AD, Lazzeroni E, Lazzeroni D, Sicari R, Picano E.

Int J Cardiol. 2016 Sep 15, 2015;

Cardiología

Coronary Embolization in Hypertrophic Cardiomyopathy with Left Ventricular Apical Aneurysm: Does Follow-up with Cardiac Magnetic Resonance Have a Role?.

Claver E, Salazar-Mendiguchía J, Cequier A.

Am J Cardiol. 2015 Aug 1, 2015;

Cardiología

Exercise Echocardiography and Cardiac Magnetic Resonance Imaging to Predict Outcome in Patients with Hypertrophic Cardiomyopathy.

Peteiro J, Fernandez X, Bouzas-Mosquera A, Monserrat L, Méndez C, Rodriguez-Garcia E, Soler R, Couto D, Castro-Beiras A.

Eur Heart J Cardiovasc Imaging. 2015 Apr;16, 2015;

Cardiología

Diagnóstico y Tratamiento de la Miocardiopatía Hipertrófica: Comparación de las Guías Europeas y Americanas.

Peña ML, Palomino J, Ochoa JP, Barriales-Vila R.

Cardiocore.2015, 2015;

Published articles in 2014

Cardiología

A Novel Clinical Risk Prediction Model for Sudden Cardiac Death in Hypertrophic Cardiomyopathy (HCM Risk-SCD).

O’Mahony C, Jichi F, Pavlou M, Monserrat L, Anastasakis A, Rapezzi C, Biagini E, Gimeno JR, Limongelli G, McKenna WJ, Omar RZ, Elliott PM; for the Hypertrophic Cardiomyopathy Outcomes Investigators.

Eur Heart J. 2014 Aug 7, 2014;

Cardiología

Desmoplakin Truncations and Arrhythmogenic Left Ventricular Cardiomyopathy: Characterizing a Phenotype.

López-Ayala JM, Gómez-Milanés I, Sánchez Muñoz JJ, Ruiz-Espejo F, Ortíz M, González-Carrillo J, López-Cuenca D, Oliva-Sandoval MJ, Monserrat L, Valdés M, Gimeno JR.

Europace. 2014 Dec, 2014;

Cardiología

Anthracycline-Mediated Cardiomyopathy: Basic Molecular Knowledge for the Cardiologist.

Salazar-Mendiguchía J, González-Costello J, Roca J, Ariza-Solé A, Manito N, Cequier A.

Arch Cardiol. Mex. 2014 Jul-Sep, 2014;

Cardiología

The Influence of Aortoseptal Angulation on Provocable Left Ventricular Outflow Tract Obstruction in Hypertrophic Cardiomyopathy.

Critoph CH, Pantazis A, Tome Esteban MT, Salazar-Mendiguchía J, Pagourelias ED, Moon JC, Elliott, PM.

Open Heart. 2014 Oct 30, 2014;

Cardiología

Merits and Pitfalls of Genetic Testing in a Hypertrophic Cardiomyopathy Clinic.

Arad M, Monserrat L, Haron-Khun S, Seidman JG, Seidman CE, Arbustini E, Glikson M, Freimark D.

Isr Med Assoc J. 2014 Nov, 2014;

Cardiología

An Unusual Complication of a Takotsubo Cardiomyopathy: A Not so Benign Disease?.

Salazar-Mendiguchía J, Ariza A, Sánchez JC, Lorente V, Cequier AR.

Int J Cardiol. 2011 Aug 4, 2014;

Published articles in 2013

Cardiología

LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.

Carcavilla A, Santomé JL, Pinto I, Sánchez-Pozo J, Guillén-Navarro E, Martín-Frías M, Lapunzina P, Ezquieta B.

Rev Esp Cardiol (Engl Ed). 2013 May, 2013;

Cardiología

Left Ventricular Hypertrophy in Fabry Disease: A Practical Approach to Diagnosis.

Yousef Z, Elliott PM, Cecchi F, Escoubet B, Linhart A, Monserrat L, Namdar M, Weidemann F.

Eur Heart J. 2013 Mar, 2013;

Cardiología

P.D1690N Nav1.5 Rescues P.G1748D Mutation Gating Defects in a Compound Heterozygous Brugada Syndrome Patient.

Núñez L, Barana A, Amorós I, González de la Fuente M, Dolz-Gaitón P, Gómez R, Rodríguez-García I, Mosquera I, Monserrat L, Delpón E, Caballero R, Castro-Beiras A, Tamargo J.

Heart Rhythm. 2013 Feb, 2013;

Cardiología

Mutations in the NOTCH Pathway Regulator MIB1 Cause Left Ventricular Noncompaction Cardiomyopathy.

Luxán G, Casanova JC, Martínez-Poveda B, Prados B, D’Amato G, MacGrogan D, Gonzalez-Rajal A, Dobarro D, Torroja C, Martinez F, Izquierdo-García JL, Fernández-Friera L, Sabater-Molina M, Kong YY, Pizarro G, Ibañez B, Medrano C, García-Pavía P, Gimeno JR, Monserrat L, Jiménez-Borreguero LJ, de la Pompa JL.

Nat Med. 2013 Feb, 2013;

Cardiología

Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 Mutations in Sporadic Hypertrophic Cardiomyopathy.

Núñez L, Gimeno-Blanes JR, Rodríguez-García MI, Monserrat L, Zorio E, Coats C, McGregor CG, Hernandez Del Rincón JP, Castro-Beiras A, Hermida-Prieto M. Circ J.

Circ J. 2013, 2013;

Published articles in 2012

Cardiología

Alterations in RAS-MAPK genes in 200 Spanish patients with Noonan and other neuro-cardio-facio-cutaneous syndromes. Genotype and cardiopathy.

Ezquieta B, Santomé JL, Carcavilla A, Guillén-Navarro E, Pérez-Aytés A, Sánchez del Pozo J, García-Miñaur S, Castillo E, Alonso M, Vendrell T, Santana A, Maroto E, Galbis L.

Rev Esp Cardiol (Engl Ed). 2012 May, 2012;

Cardiología

Los Estudios Genéticos en la Prevención de la Muerte Súbita: ¿Realidad o Ficción?.

Barriales-Villa R, Mazzanti A, Monserrat L.

Cardiocore 2012, 2012;

Cardiología

A Family with Recurrent Sudden Death and no Clinical Clue.

Arad M, Glikson M, El-Ani D, Monserrat L.

Ann Noninvasive Electrocardiol. 2012 Oct, 2012;

Cardiología

Renal Function Improvement after Conversion to Proliferation Signal Inhibitors During Long-term Follow-up in Heart Transplant Recipients.

Kaplinsky E, González-Costello J, Manito N, Roca J, Barbosa MJ, Nebot M, Salazar-Mendiguchia J, Berdejo J, Mañas P, Miralles A, Cequier A.

Transplant Proc. 2012 Nov, 2012;

Cardiología

Prognostic Value of Exercise Echocardiography in Patients with Hypertrophic Cardiomyopathy.

Peteiro J, Bouzas-Mosquera A, Fernandez X, Monserrat L, Pazos P, Estevez-Loureiro R, Castro-Beiras A.

J Am Soc Echocardiogr. 2012 Feb, 2012;

Published articles in 2011

Cardiología

A case of Noonan Syndrome with coeliac disease due to SOS1 mutation.

Carcavilla Urquí A, Santomé Collazo JL, Barrio Castellanos R, Ezquieta Zubicaray B.

Med Clin (Barc). 2011 Nov 26, 2011;

Cardiología

Cardiotrophin-1 Plasma Levels are Associated with the Severity of Hypertrophy in Hypertrophic Cardiomyopathy.

Monserrat L, López B, González A, Hermida M, Fernández X, Ortiz M, Barriales-Villa R, Castro-Beiras A, Díez J.

Eur Heart J. 2011, 2011;

Cardiología

Molecular Mechanism of the E99K Mutation in Cardiac Actin (ACTC Gene) that Causes Apical Hypertrophy in Man and Mouse.

Song W, Dyer E, Stuckey DJ, Copeland O, Leung MC, Bayliss C, Messer A, Wilkinson R, Tremoleda JL, Schneider MD, Harding SE, Redwood CS, Clarke K, Nowak K, Monserrat L, Wells D, Marston SB.

J Biol Chem. 2011, 2011;

Cardiología

A 17-year-old Male with Left Ventricular Hypertrophy: He Who Does Not Know What He Is Searching for Will Not Understand What He Finds.

Arévalo A, Rivera S, de la Cruz J, Barriales R, Montserrat L.

Rev Clin Esp. 2011, 2011;

Cardiología

Magnetic Resonance Imaging of Abnormal Ventricular Septal Motion in Heart Diseases: A Pictorial Review.

Méndez C, Soler R, Rodriguez E, López M, Alvarez L, Fernández N, Montserrat L.

Insights Imaging. 2011, 2011;

Cardiología

Genética, Muerte Súbita y Deporte.

Barriales-Villa R, Ortiz MF, Garcia D, Monserrat L.

Archivos de Medicina del Deporte 2011, 2011;

Cardiología

Genética del Síndrome de Marfan.

Barriales-Villa R, García-Justiniani D, Monserrat L.

Cardiocore 2011, 2011;

Neurología

A Novel MYH7 Mutation Links Congenital Fibre Type Disproportion and Myosin Storage Myopathy.

Ortolano S, Tarrío R, Blanco-Arias P, Teijeira S, Rodríguez-Trelles F, García-Murias M, Delague V, Lévy N, Fernández JM, Carracedo A, Navarro C, Sobrido MJ.

Neuromuscular Disorders. A, Vol 21:254-62, 2011, 2011;

Published articles in 2010

Cardiología

Cardiac Challenges in Patients with Fabry Disease.

Weidemann F, Linhart A, Monserrat L, Strotmann J.

Eur Heart J 2010 Nov, 2010;

Cardiología

Genetic Counselling and Testing in Cardiomyopathies: A Position Statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases.

Charron P, Arad M, Arbustini E, Basso C, Bilinska Z, Elliott P, Helio T, Keren A, McKenna WJ, Monserrat L, Pankuweit S, Perrot A, Rapezzi C, Ristic A, Seggewiss H, van Langen I, Tavazzi L.

Int J Cardiol. 2010 Nov 19, 2010;

Cardiología

The R820W Mutation in the MYBPC3 Gene, Associated with Hypertrophic Cardiomyopathy in Cats, Causes Hypertrophic Cardiomyopathy and Left Ventricular Non-Compaction in Humans.

Ripoll Vera T, Monserrat Iglesias L, Hermida Prieto M, Ortiz M, Rodriguez Garcia I, Govea Callizo N, Gómez Navarro C, Rosell Andreo J, Gámez Martínez JM, Pons Lladó G, Cremer Luengos D, Torres Marqués J.

Int J Cardiol. 2010 Nov 19, 2010;

Cardiología

Síndrome de Brugada.

Barriales-Villa R, Ortiz MF, García DA.

Rev Esp Cardiol. 2010, 2010;

Cardiología

Insights into Genotype-Phenotype Correlation in Hypertrophic Cardiomyopathy. Findings from 18 Spanish Families with a Single Mutation in MYBPC3.

Oliva-Sandoval MJ, Ruiz-Espejo F, Monserrat L, Hermida-Prieto M, Sabater M, García-Molina E, Ortiz M, Rodríguez-García MI, Núñez L, Gimeno JR, Castro-Beiras A, Valdés M.

Heart. 2010, 2010;

Cardiología

Severe Cardiac Conduction Disturbances and Pacemaker Implantation in Patients with Hypertrophic Cardiomyopathy.

Barriales-Villa R, Centurión-Inda R, Fernández-Fernández X, Ortiz MF, Pérez-Alvarez L, Rodríguez García I, Hermida-Prieto M, Monserrat L.

Rev Esp Cardiol. 2010, 2010;

Cardiología

Screening Mutations in Myosin Binding Protein C3 Gene in a Cohort of Patients with Hypertrophic Cardiomyopathy.

Rodríguez-García MI, Monserrat L, Ortiz M, Fernández X, Cazón L, Núñez L, Barriales-Villa R, Maneiro E, Veira E, Castro-Beiras A, Hermida-Prieto M.

BMC Med Genet. 2010, 2010;

Cardiología

Novel Human Pathological Mutations. Gene Symbol: MYBPC3. Disease: Cardiomyopathy, Hypertrophic.

Rodriguez-Garcia MI, Monserrat L, Ortiz M, Fernández X, Cazón L, Núñez L, Barriales-Villa R, Maneiro E, Veira E, Castro-Beiras A, Hermida-Prieto M.

Hum Genet. 2010 Apr, 2010;

Cardiología

The Interpretation of Genetic Tests in Inherited Cardiovascular Diseases.

Monserrat L, Mazzanti A, Ortiz-Genga M, Barriales-Villa R, Garcia D, Gimeno-Blanes JR.

Int J Cardiol. 2010, 2010;

Published articles in 2009

Cardiología

Mutación en Homocigosis en el Gen MYBPC3 Asociada a Fenotipos Severos y Alto Riesgo de Muerte Súbita en una Familia con Miocardiopatía Hipertrófica.

Ortiz M, Rodríguez-García MI, Hermida-Prieto M, Fernández X, Veira E, Barriales-Villa R, Castro-Beiras A, Monserrat L.

Rev Esp Cardiol 2009, 2009;

Published articles in 2008

Cardiología

Classification of the Cardiomyopathies: A Position Statement from the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases.

Elliott P, Andersson B, Arbustini E, Bilinska Z, Cecchi F, Charron P, Dubourg O, Kühl U, Maisch B, McKenna WJ, Monserrat L, Pankuweit S, Rapezzi C, Seferovic P, Tavazzi L, Keren A.

Eur Heart J 2008, 2008;

Cardiología

Left Ventricular Noncompaction: A Disease in Search of a Definition.

Monserrat L.

Rev Esp Cardiol 2008, 2008;

Cardiología

Sudden Death in a Patient with Lamin A/C Gene Mutation and Near Normal Left Ventricular Systolic Function.

X Fernández, C Dumont, L Monserrat, M Hermida-Prieto, A Castro-Beiras.

Int J Cardiol. 2008 May 7, 2008;

Cardiología

What Do Tachycardiomyopathy Belong to? Reply.

Elliott P; and on behalf of the following co-authors:, Andersson B, Arbustini E, Bilinska Z, Cecchi F, Charron P, Dubourg O, Kühl U, Maisch B, McKenna WJ, Monserrat L, Pankuweit S, Rapezzi C, Seferovic P, Tavazzi L, Keren A.

Eur Heart J 2008 Mar 27, 2008;

Cardiología

The New European Definition of Cardiomyopathies: Which Space for Muscle Dystrophies? Reply.

Elliott P; and on behalf of the following co-authors:, Andersson B, Arbustini E, Bilinska Z, Cecchi F, Charron P, Dubourg O, Kühl U, Maisch B, McKenna WJ, Monserrat L, Pankuweit S, Rapezzi C, Seferovic P, Tavazzi L, Keren A.

Eur Heart J 2008 May 15, 2008;

Cardiología

Apical Hypertrophic Cardiomyopathy and Left Ventricular Non-Compaction: Two Faces of the Same Disease.

Monserrat L, Barriales-Villa R, Hermida-Prieto M.

Heart 2008, 2008;

Published articles in 2007

Cardiología

Left Ventricular Asynchrony in Patients with Hypertrophic Cardiomyopathy: Its Determinants and its Relation to Left Ventricular Function.

Dumont CA, Monserrat L, Soler R, Rodríguez E, Peteiro J, Fernández X, Rodríguez A, Pérez R, Bouzas B, Castro-Beiras A.

J Am Soc Echocardiogr 2007, 2007;

Cardiología

Avances en Miocardiopatía Dilatada Idiopática: Del Genotipo al Fenotipo Clínico.

Monserrat L, Hermida-Prieto M, Castro-Beiras A.

Rev Esp Cardiol Supl F 2007, 2007;

Cardiología

Value of Resting and Exercise Mitral Regurgitation during Exercise Echocardiography to Predict Outcome in Patients with Left Ventricular Dysfunction.

Peteiro J, Monserrat L, Piñon P, Bouzas A, Campos R, Mosquera I, Mariñas J, Bouzas B, Castro Beiras A.

Rev Esp Cardiol. 2007, 2007;

Cardiología

Mutation in the Alpha-Cardiac Actin Gene Associated with Apical Hypertrophic Cardiomyopathy, Left Ventricular Non-Compaction, and Septal Defects.

Monserrat L, Hermida-Prieto M, Fernandez X, Rodríguez I, Dumont C, Cazón L, Cuesta MG, Gonzalez-Juanatey C, Peteiro J, Alvarez N, Penas-Lado M, Castro-Beiras A.

Eur Heart J. 2007 Aug, 2007;

Cardiología

Prevelence of Fabry Disease in a Cohort of 508 Unrelated Patients With Hypertrophic Cardiomyopathy.

Monserrat L, Gimeno-Blanes JR, Marín F, Hermida-Prieto M, García-Honrubia A, Perez I, Fernandez X, de Nicolas R, de la Morena G, Paya E, Yagüe J, Egido J.

J Am Coll Cardiol 2007, 2007;

Cardiología

Clinical Significance of Late Gadolinium Enhancement on Cardiovascular Magnetic Resonance in Patients with Hypertrophic Cardiomyopathy.

Dumont CA, Monserrat L, Soler R, Rodríguez E, Fernández X, Peteiro J, Bouzas B, Piñón P, Castro-Beiras A.

Rev Esp Cardiol. 2007, 2007;

Cardiología

Relation of Left Ventricular Chamber Stiffness at Rest to Exercise Capacity in Hypertrophic Cardiomyopathy.

Dumont CA, Monserrat L, Peteiro J, Soler R, Rodriguez E, Bouzas A, Fernandez X, Pérez R, Bouzas B, Castro-Beiras A.

Am J Cardiol. 2007, 2007;

Published articles in 2006

Cardiología

Interpretation of Electrocardiographic Abnormalities in Hypertrophic Cardiomyopathy with Cardiac Magnetic Resonance.

Dumont CA, Monserrat L, Soler R, Rodríguez E, Fernandez X, Peteiro J, Bouzas A, Bouzas B, Castro-Beiras A.

Eur Heart J. 2006, 2006;

Cardiología

The Implantable Cardioverter-Defibrillator and Hypertrophic Cardiomyopathy. Experience at Three Centers.

Marin F, Gimeno JR, Paya E, Garcia-Alberola JR, Perez-Alvarez L, Fernández X, de la Morena G, Sogorb F, Castro-Beiras A, Valdes M, Martinez JG, Monserrat L.

Rev Esp Cardiol. 2006, 2006;

Cardiología

Magnetic Resonance Imaging of Delayed Enhancement in Hypertrophic Cardiomyopathy: Relationship with Left Ventricular Perfusion and Contractile Function.

Soler R, Rodriguez E, Monserrat L, Mendez C, Martinez C.

J Comput Assist Tomogr. 2006, 2006;

Cardiología

Beta-Myosin Heavy-Chain Gene Mutations in Patients with Hypertrophic Cardiomyopathy.

Laredo R, Monserrat L, Hermida-Prieto M, Fernandez X, Rodriguez I, Cazon L, Alvariño I, Dumont C, Piñon P, Peteiro J, Bouzas B, Castro-Beiras A.

Rev Esp Cardiol 2006, 2006;

Cardiología

Risk Stratification by Treadmill Exercise Echocardiography.

Peteiro JC, Monserrat L, Bouzas A, Pinon P, Marinas J, Bouzas B, Castro-Beiras A.

J Am. Soc. Echocardiogr. 2006, 2006;

Neurología

Distinct Phenotypic Features and Gender-Specific Disease Manifestations in a Spanish Family with Desmin L370P Mutation.

Arias M, Pardo J, Blanco-Arias P, Sobrido MJ, Arias S, Dapena D, Carracedo A, Goldfarb LG, Navarro C.

Neuromuscular Disorders. A, Vol 16, 498-503, 2006, 2006;

Published articles in 2005

Cardiología

Gene Mutations in Apical Hypertrophic Cardiomyopathy.

Arad M, Penas Lado M, Monserrat L, Maron BJ, Sherrid M, Ho CY, Barr S, Karim A, Olson TM, Kamisago M, Seidman JG, Seidman CE.

Circulation. 2005 Nov 1, 2005;

Cardiología

Standard Mutation Nomenclature in Hypertrophic Cardiomyopathy: An Urgent Need.

Hermida-Prieto M, Laredo R, Monserrat L, Castro-Beiras A.

J Am Coll Cardiol 2005, 2005;

Cardiología

Effect of Nitric Oxide on Mitochondrial Respiratory Activity of Human Articular Chondrocytes.

Maneiro E, López-Armada MJ, de Andres MC, Caramés B, Martín MA, Bonilla A, Del Hoyo P, Galdo F, Arenas J, Blanco FJ.

Ann Rheum Dis. 2005 Mar, 2005;

Published articles in 2004

Cardiología

Familial Dilated Cardiomyopathy and Isolated Left Ventricular Non-Compaction Associated with Lamin A/C Gene Mutations.

Monserrat, A Castro-Beiras, R Laredo, R Soler, J Peteiro, E Rodríguez, B Bouzas, N Álvarez, J Muñiz, M Crespo-Leiro.

Am J Cardiol 2004, 2004;

Cardiología

Mitochondrial Dysfunction in Osteoarthritis.

Blanco FJ, López-Armada MJ, Maneiro E.

Mitochondrion. 2004 Sep, 2004;

Published articles in 2003

Cardiología

Hypertrophic Cardiomyopathy and Outflow Tract Obstruction.

L Monserrat, M Penas-Lado, A Castro-Beiras, K Iqbal, NA Tramboo, K Mohi-Ud-Din, DM Spevack, MS Maron, I Olivotto, BJ Maron.

N Engl J Med 2003, 2003;

Cardiología

Mitochondrial Respiratory Activity Is Altered in Osteoarthritic Human Articular Chondrocytes.

Maneiro E, Martín MA, de Andres MC, López-Armada MJ, Fernández-Sueiro JL, Del Hoyo P, Galdo F, Arenas J, Blanco FJ.

Arthritis Rheum. 2003 Mar, 2003;

Cardiología

Hopes and Experiences in the Treatment of Severe Pulmonary Hypertension.

L Monserrat, M Penas-Lado, A Castro-Beiras.

Rev Esp Cardiol 2003, 2003;

Cardiología

Exercise Echocardiography to Differenciate Dilated Cardiomyopathy from Ischemic Left Ventricular Dysfunction.

J Peteiro, L Monserrat, E Vázquez, R Calviño, JM Vázquez, R Fábregas, J Salgado, JA Rodríguez-Fernández, A Castro-Beiras.

Rev Esp Cardiol 2003, 2003;

Cardiología

Non-Sustained Ventricular Tachycardia in Hypertrophic Cardiomyopathy: An Independent Marker of Sudden Death Risk in Young Patients.

L Monserrat, PM Elliott, JR Gimeno, S Sharma, M Penas-Lado, WJ McKenna.

J Am Coll Cardiol. 2003 Sep 3, 2003;

Cardiología

Miocardiopatía Dilatada Familiar: Situación Clínica Actual y Beneficios Clínicos de la Investigación Básica.

A Castro-Beiras, L Monserrat, M Hermida.

Rev Esp Cardiol. 2003, 2003;

Published articles in 2002

Cardiología

Miocardiopatía Dilatada Familiar en Pacientes Trasplantados por Miocardiopatía Dilatada Idiopática.

L Monserrat, M Hermida, B Bouzas, I Mosquera, N Mahon, J Peteiro, N Álvarez, M Penas-Lado, MG Crespo, A Castro-Beiras.

Rev Esp Cardiol. 2002 Jul, 2002;

Published articles in 2000

Cardiología

Sudden Death in Hypertrophic Cardiomyopathy: Identification of High Risk Patients.

PM Elliott, J Poloniecki, S Dickie, S Sharma, L Monserrat, A Varnava, NG Mahon, WJ McKenna. J.

J Am Coll Cardiol. 2000 Dec, 2000;

Cardiología

Identificación y Tratamiento de los Pacientes con Miocardiopatía Hipertrófica y Riesgo de Muerte Súbita.

William J McKenna, Lorenzo Monserrat.

Rev Esp Cardiol. 2000, 2000;

Published articles in 1999

Cardiología

Labil Subaortic Obstruction during Exercise Stress Echocardiography.

Jesús Peteiro, Lorenzo Monserrat, Alfonso Castro-Beiras.

Am J Cardiol 1999, 1999;