Publications by authors named "Lorenzo Monserrat"

121Publications

Shprintzen-Goldberg syndrome and aortic dilatation: apropos of 2 new cases.

Authors:
Juan Pablo Trujillo-Quintero Elisabeth Gabau Vila José María Larrañaga Moreira Anna Ruiz Nel Lo Lorenzo Monserrat Roberto Barriales-Villa

Rev Esp Cardiol (Engl Ed) 2021 Jan 18. Epub 2021 Jan 18.

Unidad de Cardiopatías Familiares, Instituto de Investigación Biomédica de A Coruña (INIBIC), Complexo Hospitalario Universitario A Coruña (CHUAC), Servizo Galego de Saúde (SERGAS), Universidade da Coruña, A Coruña, Galicia, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Spain.

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January 2021

Preventing Sudden Death in Arrhythmogenic Cardiomyopathy: Careful family and genetic evaluation key to appropriate diagnosis and management.

Authors:
Martín Ortiz-Genga Soledad García Lorenzo Monserrat William J McKenna

Can J Cardiol 2020 Dec 21. Epub 2020 Dec 21.

University College London - Institute of Cardiovascular Science, London, United Kingdom. Electronic address:

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December 2020

Value of a comprehensive exercise echocardiography assessment for patients with hypertrophic cardiomyopathy.

Authors:
Jesus Peteiro Roberto Barriales-Villa José M Larrañaga-Moreira Alberto Bouzas-Mosquera Cristina Martinez-Veira Diana Castro-Dios Xusto Fernández-Fernández Lorenzo Monserrat Jose Vazquez-Rodriguez

J Cardiol 2020 Dec 16. Epub 2020 Dec 16.

Laboratory of Stress Echocardiography, Department of Cardiology, Complejo Hospitalario Universitario de A Coruña (CHUAC), CIBER-CV, Universidad de A Coruña, As Xubias, 84, 15006 A Coruña, Spain.

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December 2020

Clinical Profile of Cardiac Involvement in Danon Disease: A Multicenter European Registry.

Authors:
Dor Lotan Joel Salazar-Mendiguchía Jens Mogensen Faizan Rathore Aris Anastasakis Juan Kaski Pablo Garcia-Pavia Iacopo Olivotto Philippe Charron Elena Biagini Anwar Baban Giuseppe Limongelli Waddah Ashram Yishay Wasserstrum Joseph Galvin Esther Zorio Attilio Iacovoni Lorenzo Monserrat Paolo Spirito Maria Iascone Michael Arad

Circ Genom Precis Med 2020 Dec 5;13(6):e003117. Epub 2020 Nov 5.

Leviev Heart Center, Sheba Medical Center and Sackler School of Medicine, Tel Aviv University, Israel (D.L., Y.W., M.A.).

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December 2020

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

Authors:
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

Eur J Med Genet 2020 Dec 7;63(12):104079. Epub 2020 Oct 7.

Cardiovascular Genetics Department, Health in Code, A Coruña, Spain.

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December 2020

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

Authors:
Mohammed Majid Akhtar Massimiliano Lorenzini Marcos Cicerchia Juan Pablo Ochoa Thomas Morris Hey Maria Sabater Molina Maria Alejandra Restrepo-Cordoba Matteo Dal Ferro Davide Stolfo Renee Johnson José M Larrañaga-Moreira Ainhoa Robles-Mezcua Jose F Rodriguez-Palomares Guillem Casas Maria Luisa Peña-Peña Luis Rocha Lopes Maria Gallego-Delgado Maria Franaszczyk Gemma Laucey Diego Rangel-Sousa Mayte Basurte Julian Palomino-Doza Eduardo Villacorta Zofia Bilinska Javier Limeres Freire José M Garcia Pinilla Roberto Barriales-Villa Diane Fatkin Gianfranco Sinagra Pablo Garcia-Pavia Juan R Gimeno Jens Mogensen Lorenzo Monserrat Perry M Elliott

Circ Heart Fail 2020 Oct 23;13(10):e006832. Epub 2020 Sep 23.

Department of Inherited Cardiovascular Diseases, Bart's Heart Centre, St. Bartholomew's Hospital, London, United Kingdom (M.M.A., M.L., L.R.L., P.M.E.).

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October 2020

Clinical utility of genetic testing in patients with dilated cardiomyopathy.

Authors:
Maria Luisa Peña-Peña Juan Pablo Ochoa Roberto Barriales-Villa Marcos Cicerchia Julián Palomino-Doza Joel Salazar-Mendiguchia Arsonval Lamounier Juan Pablo Trujillo Diego Garcia-Giustiniani Xusto Fernandez Martin Ortiz-Genga Lorenzo Monserrat Maria Generosa Crespo-Leiro

Med Clin (Barc) 2020 Aug 18. Epub 2020 Aug 18.

Servicio de Cardiología, Complejo Hospitalario Universitario A Coruña (CHUAC), Universidad de A Coruña (UDC), Instituto de Investigación Biomédica de A Coruña (INIBIC), A Coruña, España; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Instituto de Salud Carlos III, Madrid, España.

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August 2020

A Pathogenic Galactosidase A Mutation Coexisting With an MYBPC3 Mutation in a Female Patient With Hypertrophic Cardiomyopathy.

Authors:
Giovanni Vitale Ferdinando Pasquale Ornella Leone Giovanna Cenacchi Fabio Niro Mario Torrado Emilia Maneiro Maddalena Graziosi Raffaello Ditaranto Irene Capelli Lorenzo Monserrat Claudio Rapezzi Elena Biagini

Can J Cardiol 2020 Sep 14;36(9):1554.e1-1554.e3. Epub 2020 Apr 14.

Azienda Ospedaliero Universitaria - Policlinico di St. Orsola, Cardiology Unit, Cardio-Thoracic-Vascular Department, Bologna, Italy. Electronic address:

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September 2020

Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.

Authors:
Angela Lopez-Sainz Fernando Dominguez Luis Rocha Lopes Juan Pablo Ochoa Roberto Barriales-Villa Vicente Climent Marijke Linschoten Coloma Tiron Chiara Chiriatti Nuno Marques Torsten B Rasmussen María Ángeles Espinosa Roy Beinart Giovanni Quarta Sergi Cesar Ella Field Jose M Garcia-Pinilla Zofia Bilinska Alison R Muir Angharad M Roberts Enrique Santas Esther Zorio Maria Luisa Peña-Peña Marina Navarro Adrian Fernandez Julian Palomino-Doza Olga Azevedo Massimiliano Lorenzini Maria I García-Álvarez Dina Bento Morten K Jensen Irene Méndez Laura Pezzoli Georgia Sarquella-Brugada Oscar Campuzano Esther Gonzalez-Lopez Jens Mogensen Juan Pablo Kaski Michael Arad Ramon Brugada Folkert W Asselbergs Lorenzo Monserrat Iacopo Olivotto Perry M Elliott Pablo Garcia-Pavia

J Am Coll Cardiol 2020 07;76(2):186-197

Heart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro, Madrid, Spain; Centro de Investigación Biomédica en Red en Enfermedades Cardiovasculares, Madrid, Spain; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart; Universidad Francisco de Vitoria, Pozuelo de Alarcon, Spain. Electronic address:

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July 2020

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

Authors:
Roberto Barriales-Villa Juan P Ochoa José M Larrañaga-Moreira Joel Salazar-Mendiguchía Carles Díez-López María Alejandra Restrepo-Córdoba Jorge Álvarez-Rubio Ainhoa Robles-Mezcua María C Olmo-Conesa Elisa Nicolás-Rocamora Jorge Sanz Eduardo Villacorta María Gallego-Delgado Raquel Yotti María Ángeles Espinosa Ana Manovel Luis M Rincón-Díaz Juan Jiménez-Jaimez Francisco J Bermúdez-Jiménez M Teresa Basurte-Elorz Vicente Climent-Payá María I García-Álvarez José Fernando Rodríguez-Palomares Javier Limeres-Freire Ainhoa Pérez-Guerrero Eva M Cantero-Pérez María L Peña-Peña Julián Palomino-Doza María G Crespo-Leiro José M García-Pinilla Esther Zorio Tomás Ripoll-Vera Pablo García-Pavía Martín Ortiz-Genga Lorenzo Monserrat

Rev Esp Cardiol (Engl Ed) 2020 Jun 29. Epub 2020 Jun 29.

Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Madrid, Spain; Departamento de Cardiología, Health in Code, A Coruña, Spain.

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June 2020

Reduction in Filamin C transcript is associated with arrhythmogenic cardiomyopathy in Ashkenazi Jews.

Authors:
Shimrit Oz Hagith Yonath Leonid Visochyk Efrat Ofek Natalie Landa Haike Reznik-Wolf Martin Ortiz-Genga Lorenzo Monserrat Tuvia Ben-Gal Orly Goitein Roy Beinart Michael Glikson Dov Freimark Elon Pras Michael Arad Eyal Nof

Int J Cardiol 2020 Oct 5;317:133-138. Epub 2020 Apr 5.

Heart Center, Sheba Medical Center, Tel Hashomer, Israel; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel.

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October 2020

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

Authors:
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 Belén Gil-Fournier Felícitas Díaz-Flores Rafael Salguero Luis Santomé Petros Syrris Montse Olivé Pablo García-Pavía Martín Ortiz-Genga Perry M Elliott Lorenzo Monserrat

Heart 2020 Sep 25;106(17):1342-1348. Epub 2020 May 25.

Cardiovascular Genetics, Health in Code, A Coruna, Spain.

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September 2020

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

Authors:
Anna E Semenova Igor V Sergienko Diego García-Giustiniani Lorenzo Monserrat Anna B Popova Diana N Nozadze Marat V Ezhov

J Cardiovasc Dev Dis 2020 May 14;7(2). Epub 2020 May 14.

National Medical Research Center of Cardiology, 121552 Moscow, Russia.

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May 2020

Familial Recurrent Myocarditis Triggered by Exercise in Patients With a Truncating Variant of the Desmoplakin Gene.

Authors:
Wolfgang Poller Jan Haas Karin Klingel Jirko Kühnisch Martina Gast Ziya Kaya Felicitas Escher Elham Kayvanpour Franziska Degener Bernd Opgen-Rhein Felix Berger Hans-Christian Mochmann Carsten Skurk Bettina Heidecker Heinz-Peter Schultheiss Lorenzo Monserrat Benjamin Meder Ulf Landmesser Sabine Klaassen

J Am Heart Assoc 2020 05 15;9(10):e015289. Epub 2020 May 15.

German Center for Cardiovascular Research (DZHK) partner site Berlin Germany.

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May 2020

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

Authors:
Luis R Lopes Pedro Barbosa Mario Torrado Ellie Quinn Ana Merino Juan Pablo Ochoa Joanna Jager Marta Futema Maria Carmo-Fonseca Lorenzo Monserrat Petros Syrris Perry M Elliott

Circ Genom Precis Med 2020 06 12;13(3):e002905. Epub 2020 May 12.

Inherited Cardiovascular Disease Unit, St Bartholomew's Hospital, Barts Health NHS Trust (L.R.L., E.Q., P.M.E.).

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June 2020

Prognostic implications of pathogenic truncating variants in the TTN gene.

Authors:
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 Martin Ortiz-Genga Lorenzo Monserrat Maria Generosa Crespo-Leiro

Int J Cardiol 2020 10 1;316:180-183. Epub 2020 May 1.

Cardiology Department, Complexo Hospitalario Universitario A Coruña (CHUAC), A Coruña University (UDC), INIBIC, A Coruña, Spain; Centro de Investigación Biomédica en Red de Enfermedades Cardiovasculares (CIBERCV), Instituto de Salud Carlos III, Madrid, Spain.

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October 2020

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

Authors:
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 Svetlana Kuzmina-Krutetskaya José A Garrote Perry M Elliott Lorenzo Monserrat

Clin Genet 2020 Jul 11;98(1):86-90. Epub 2020 May 11.

Scientific Department, Health in Code SL, A Coruña, Spain.

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July 2020

Natural History and Risk Stratification in Andersen-Tawil Syndrome Type 1.

Authors:
Andrea Mazzanti Dmitri Guz Alessandro Trancuccio Eleonora Pagan Deni Kukavica Tekla Chargeishvili Natalia Olivetti Elżbieta Katarzyna Biernacka Luciana Sacilotto Georgia Sarquella-Brugada Oscar Campuzano Eyal Nof Aristides Anastasakis Valeria A Sansone Juan Jimenez-Jaimez Fernando Cruz Jessica Sánchez-Quiñones Julio Hernandez-Afonso Maria Eugenia Fuentes Beata Średniawa Anastasia Garoufi Irena Andršová Maite Izquierdo Rumen Marinov Asaf Danon Victor Expósito-García Amaya Garcia-Fernandez Carmen Muñoz-Esparza Martín Ortíz Agnieszka Zienciuk-Krajka Elisa Tavazzani Nicola Monteforte Raffaella Bloise Maira Marino Mirella Memmi Carlo Napolitano Esther Zorio Lorenzo Monserrat Vincenzo Bagnardi Silvia G Priori

J Am Coll Cardiol 2020 04;75(15):1772-1784

Molecular Cardiology, IRCCS ICS Maugeri, Pavia, Italy; Department of Molecular Medicine, University of Pavia, Pavia, Italy; European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart; Molecular Cardiology, Fundación Centro Nacional de Investigaciones Cardiovasculares, Madrid, Spain. Electronic address:

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April 2020

Identification, clinical manifestation and structural mechanisms of mutations in AMPK associated cardiac glycogen storage disease.

Authors:
Dan Hu Dong Hu Liwen Liu Daniel Barr Yang Liu Norma Balderrabano-Saucedo Bo Wang Feng Zhu Yumei Xue Shulin Wu BaoLiang Song Heather McManus Katherine Murphy Katherine Loes Arnon Adler Lorenzo Monserrat Charles Antzelevitch Michael H Gollob Perry M Elliott Hector Barajas-Martinez

EBioMedicine 2020 Apr 4;54:102723. Epub 2020 Apr 4.

Lankenau Institute for Medical Research, Wynnewood, PA, USA; Lankenau Heart Institute, Sidney Kimmel College of Medicine, Thomas Jefferson University, USA.

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April 2020

Identification by next-generation sequencing of 2 novel cases of noncompaction cardiomyopathy associated with 1p36 deletions.

Authors:
María Luisa Peña-Peña Juan Pablo Trujillo-Quintero Dolores García-Medina Eva María Cantero-Pérez David De Uña-Iglesias Lorenzo Monserrat

Rev Esp Cardiol (Engl Ed) 2020 Sep 16;73(9):780-782. Epub 2020 Mar 16.

Instituto de investigación Biomédica de A Coruña (INIBIC), Comité científico, Health in Code, A Coruña, Spain.

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September 2020