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1. Effects of sacubitril/valsartan on cardiac remodeling in heart failure with reduced ejection fraction: An integrated study of molecular biomarkers and imaging techniques

Author

Robles-Mezcua, Ainhoa, Januzzi, James L., Pavón-Morón, Francisco Javier, Rodríguez-Capitán, Jorge, López-Garrido, Miguel A., Cruzado-Álvarez, Concepción, Robles-Mezcua, María, Gutiérrez-Bedmar, Mario, Couto-Mallón, David, Rueda-Calle, Eloy C., Barreiro-Pérez, Manuel, Sánchez, Pedro L., Gómez-Doblas, Juan José, Jiménez-Navarro, Manuel F., and García-Pinilla, José M.

Published
2025
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2. Sex-based Differences in Heart Failure Biomarkers

Author

Robles-Mezcua, Ainhoa, Aguado, Nelsa González, de la Rosa, Antonia Pilar Martin, Cruzado-Álvarez, Concepción, Rubio, Clara Jiménez, Cabeza, Alejandro IPérez, Gómez-Doblas, Juan José, Jiménez-Navarro, Manuel F., Pierri, Mora Murri, and García-Pinilla, José M.

Published
2024
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3. Diagnostic and Therapeutic Approaches for Heart Failure in Long-Term Survivors of Childhood Cancer

Author

Consuelo Fernandez-Aviles, Rafael Gonzalez-Manzanares, Soledad Ojeda, Juan C. Castillo, Ainhoa Robles-Mezcua, Manuel Anguita, Dolores Mesa, and Manuel Pan

Subjects
heart failure therapy, cardiotoxicity, long-term survivors, childhood cancer, Biology (General), QH301-705.5
Abstract

The improvement in survival rates in pediatric malignancies has led to an increase in the number of cancer survivors who are at risk of developing cardiotoxicity and heart failure. Cardiac dysfunction in these patients can occur asymptomatically, and the diagnosis in a symptomatic phase is associated with reduced treatment response and worse prognosis. For this reason, it is essential to establish protocols to follow up on these patients and identify those at risk of cardiotoxicity in order to start early and effective therapies. This review aims to summarize the latest findings in the diagnosis and treatment of cancer therapy-related cardiac disease in long-term survivors of childhood cancer, with a focus on heart failure.

Published
2024
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4. Short-term changes in klotho and FGF23 in heart failure with reduced ejection fraction—a substudy of the DAPA-VO2 study

Author

Carmen Mora-Fernández, Adora Pérez, Anna Mollar, Patricia Palau, Martina Amiguet, Rafael de la Espriella, Juan Sanchis, Jose Luis Górriz, María José Soler, Juan F. Navarro-González, Julio Núñez, DAPA-VO2 Investigators, Eloy Domínguez, Clara Sastre, Julia Seller, Jose Manuel Garcia Pinilla, Ainoha Larumbe, Alfonso Valle, Juan Jose Gómez Doblas, Gema Miñana, Ainhoa Robles Mezcua, Enrique Santas, Vicent Bodí, Domingo Pascual-Figal, Antonio Baýes-Genís, Jose Civera, Adriana Conesa, Rim Zakarne, Clara Jiménez Rubio, Alejandro I. Pérez Cabeza, Arancha Díaz Expósito, José David Martínez Carmona, Manuel Luna Morales, Francisco J. Zafra Sánchez, Ángel Montiel Trujillo, and Herminio Morillas Climent

Subjects
dapagliflozin, fibroblast growth factor 23, functional capacity, heart failure with reduced ejection fraction, klotho, peak oxygen consumption, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

The klotho and fibroblast growth factor 23 (FGF-23) pathway is implicated in cardiovascular pathophysiology. This substudy aimed to assess the changes in klotho and FGF-23 levels 1-month after dapagliflozin in patients with stable heart failure and reduced ejection fraction (HFrEF). The study included 29 patients (32.2% of the total), with 14 assigned to the placebo group and 15 to the dapagliflozin, as part of the double-blind, randomized clinical trial [DAPA-VO2 (NCT04197635)]. Blood samples were collected at baseline and after 30 days, and Klotho and FGF-23 levels were measured using ELISA Kits. Between-treatment changes (raw data) were analyzed by using the Mann-Whitney test and expressed as median (p25%–p75%). Linear regression models were utilized to analyze changes in the logarithm (log) of klotho and FGF-23. The median age was 68.3 years (60.8–72.1), with 79.3% male and 81.5% classified as NYHA II. The baseline medians of left ventricular ejection fraction, glomerular filtration rate, NT-proBNP, klotho, and FGF-23 were 35.8% (30.5–37.8), 67.4 ml/min/1.73 m2 (50.7–82.8), 1,285 pg/ml (898–2,305), 623.4 pg/ml (533.5–736.6), and 72.6 RU/ml (62.6–96.1), respectively. The baseline mean peak oxygen uptake was 13.1 ± 4.0 ml/kg/min. Compared to placebo, patients on dapagliflozin showed a significant median increase of klotho [Δ+29.5, (12.9–37.2); p = 0.009] and a non-significant decrease of FGF-23 [Δ−4.6, (−1.7 to −5.4); p = 0.051]. A significant increase in log-klotho (p = 0.011) and a decrease in log-FGF-23 (p = 0.040) were found in the inferential analysis. In conclusion, in patients with stable HFrEF, dapagliflozin led to a short-term increase in klotho and a decrease in FGF-23.

Published
2023
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5. Case Report: COVID-19 with cytokine storm in a 16-year-old patient: if heart failures comes think about levosimendan [version 2; peer review: 1 approved, 3 approved with reservations]

Author

Veronica Rodriguez-Garcia, Jose Luis Guerrero Orriach, Daniel Ariza Villanueva, Jose Manuel Garcia Pinilla, Ainhoa Robles Mezcua, Manuel Rubio Navarro, and Jose Cruz Mañas

Subjects
Case Report, Articles, COVID-19, myocarditis, multiorganic failure, levosimendan, case report.
Abstract

Introduction: Our case is unique because the differential diagnosis was a challenge. At first, the patient presented with septic shock and multi-organ failure in the context of a suspected lymphoproliferative syndrome. Once the lymphoproliferative process had been ruled out, hemophagocytic syndrome due to COVID-19 infection was suspected, so he is probably one of the few patients with such an exhaustive study that could contribute to our understanding of COVID-19. We followed therapeutic guidelines that differ from the usual, using adrenalin and levosimendan. Corticosteroids helped to modulate the cytokine storm. Case report: A 16-year-old adolescent was admitted to the intensive care unit with fever, diarrhea, multiorgan failure and septic shock. He was IgG positive for COVID-19 and IgM negative. Thoraco-abdominal computed tomography demonstrated multiple para-aortic and peri-pancreatic lymphadenopathy and acute respiratory distress syndrome. The first suspected diagnosis was a lymphoproliferative syndrome and bacterial infection. The second possibility was a hemophagocytic syndrome in a patient recovering from COVID-19. He was treated with broad spectrum antibiotics because the differential diagnosis was difficult, and we removed them when the microbiological screening was negative. During the course of the disease he presented with severe biventricular dysfunction, probably due to the cytokine storm, so we used inotropic drugs (adrenaline, levosimendan). Infection with Salmonella species group B was diagnosed later, when the patient was in the Internal Medicine ward, although he was asymptomatic. Conclusion: The severity of COVID-19 infection ranges from mild to severe, causing serious disease in some people. Although the pathophysiology is not well known, it seems that in some cases an immune storm is triggered, and it is related to more serious and prolonged disease. In our case, heart failure was important, because it could have worsened the prognosis. Fortunately, the response to levosimendan and corticosteroids was adequate and he recovered favorably until discharge.

Published
2023
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6. Case Report: COVID-19 with cytokine storm in a 16-year-old patient: if heart failures comes think about levosimendan [version 2; peer review: 1 approved, 2 approved with reservations]

Author

Jose Manuel Garcia Pinilla, Daniel Ariza Villanueva, Veronica Rodriguez-Garcia, Jose Luis Guerrero Orriach, Jose Cruz Mañas, Manuel Rubio Navarro, and Ainhoa Robles Mezcua

Subjects
COVID-19, myocarditis, multiorganic failure, levosimendan, case report., eng, Medicine, Science
Abstract

Introduction: Our case is unique because the differential diagnosis was a challenge. At first, the patient presented with septic shock and multi-organ failure in the context of a suspected lymphoproliferative syndrome. Once the lymphoproliferative process had been ruled out, hemophagocytic syndrome due to COVID-19 infection was suspected, so he is probably one of the few patients with such an exhaustive study that could contribute to our understanding of COVID-19. We followed therapeutic guidelines that differ from the usual, using adrenalin and levosimendan. Corticosteroids helped to modulate the cytokine storm. Case report: A 16-year-old adolescent was admitted to the intensive care unit with fever, diarrhea, multiorgan failure and septic shock. He was IgG positive for COVID-19 and IgM negative. Thoraco-abdominal computed tomography demonstrated multiple para-aortic and peri-pancreatic lymphadenopathy and acute respiratory distress syndrome. The first suspected diagnosis was a lymphoproliferative syndrome and bacterial infection. The second possibility was a hemophagocytic syndrome in a patient recovering from COVID-19. He was treated with broad spectrum antibiotics because the differential diagnosis was difficult, and we removed them when the microbiological screening was negative. During the course of the disease he presented with severe biventricular dysfunction, probably due to the cytokine storm, so we used inotropic drugs (adrenaline, levosimendan). Infection with Salmonella species group B was diagnosed later, when the patient was in the Internal Medicine ward, although he was asymptomatic. Conclusion: The severity of COVID-19 infection ranges from mild to severe, causing serious disease in some people. Although the pathophysiology is not well known, it seems that in some cases an immune storm is triggered, and it is related to more serious and prolonged disease. In our case, heart failure was important, because it could have worsened the prognosis. Fortunately, the response to levosimendan and corticosteroids was adequate and he recovered favorably until discharge.

Published
2023
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9. Risk predictors in a Spanish cohort with cardiac laminopathies. The REDLAMINA registry

Author

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

Published
2021
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10. Predictores de riesgo en una cohorte española con cardiolaminopatías. Registro REDLAMINA

Author

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

Published
2021
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12. Diagnostic and Therapeutic Approaches for Heart Failure in Long-Term Survivors of Childhood Cancer.

Author

Fernandez-Aviles, Consuelo, Gonzalez-Manzanares, Rafael, Ojeda, Soledad, Castillo, Juan C., Robles-Mezcua, Ainhoa, Anguita, Manuel, Mesa, Dolores, and Pan, Manuel

Subjects
HEART diseases, CARDIAC patients, CARDIOTOXICITY, THERAPEUTICS, CHILDHOOD cancer, HEART failure
Abstract

The improvement in survival rates in pediatric malignancies has led to an increase in the number of cancer survivors who are at risk of developing cardiotoxicity and heart failure. Cardiac dysfunction in these patients can occur asymptomatically, and the diagnosis in a symptomatic phase is associated with reduced treatment response and worse prognosis. For this reason, it is essential to establish protocols to follow up on these patients and identify those at risk of cardiotoxicity in order to start early and effective therapies. This review aims to summarize the latest findings in the diagnosis and treatment of cancer therapy-related cardiac disease in long-term survivors of childhood cancer, with a focus on heart failure. [ABSTRACT FROM AUTHOR]

Published
2024
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13. Case Report: COVID-19 with cytokine storm in a 16-year-old patient: if heart failures comes think about levosimendan [version 1; peer review: 2 approved with reservations]

Author

Veronica Rodriguez-Garcia, Jose Luis Guerrero Orriach, Daniel Ariza Villanueva, Jose Manuel Garcia Pinilla, Ainhoa Robles Mezcua, Manuel Rubio Navarro, and Jose Cruz Mañas

Subjects
Case Report, Articles, COVID-19, myocarditis, multiorganic failure, levosimendan, case report.
Abstract

Introduction: Our case is unique because the differential diagnosis was a challenge. At first, the patient presented with septic shock and multi-organ failure in the context of a suspected lymphoproliferative syndrome. Once the lymphoproliferative process had been ruled out, hemophagocytic syndrome due to COVID-19 infection was suspected, so he is probably one of the few patients with such an exhaustive study that could contribute to our understanding of COVID-19. We followed therapeutic guidelines that differ from the usual, using adrenalin and levosimendan. Corticosteroids helped to modulate the cytokine storm. Case report: A 16-year-old adolescent was admitted to the intensive care unit with fever, diarrhea, multiorgan failure and septic shock. He was IgG positive for COVID-19 and IgM negative. Thoraco-abdominal computed tomography demonstrated multiple para-aortic and peri-pancreatic lymphadenopathy and acute respiratory distress syndrome. The first suspected diagnosis was a lymphoproliferative syndrome and bacterial infection. The second possibility was a hemophagocytic syndrome in a patient recovering from COVID-19. He was treated with broad spectrum antibiotics because the differential diagnosis was difficult, and we removed them when the microbiological screening was negative. During the course of the disease he presented with severe biventricular dysfunction, probably due to the cytokine storm, so we used inotropic drugs (adrenaline, levosimendan). Infection with Salmonella species group B was diagnosed later, when the patient was in the Internal Medicine ward, although he was asymptomatic. Conclusion: The severity of COVID-19 infection ranges from mild to severe, causing serious disease in some people. Although the pathophysiology is not well known, it seems that in some cases an immune storm is triggered, and it is related to more serious and prolonged disease. In our case, heart failure was important, because it could have worsened the prognosis. Fortunately, the response to levosimendan and corticosteroids was adequate and he recovered favorably until discharge.

Published
2021
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14. Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene

Author

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

Published
2020
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15. The Novel Variant NP_00454563.2 (p.Glu259Glyfs*77) in Gene PKP2 Associated with Arrhythmogenic Cardiomyopathy in 8 Families from Malaga, Spain

Author

Robles-Mezcua, Ainhoa, primary, Ruíz-Salas, Amalio, additional, Medina-Palomo, Carmen, additional, Robles-Mezcua, María, additional, Díaz-Expósito, Arancha, additional, Ortega-Jiménez, María Victoria, additional, Gimeno-Blanes, Juan Ramón, additional, Jiménez-Navarro, Manuel F., additional, and García-Pinilla, José Manuel, additional

Published
2023
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19. Differences between familial and sporadic dilated cardiomyopathy: ESC EORP Cardiomyopathy & Myocarditis registry

Author

Asselbergs F. W., Sammani A., Elliott P., Gimeno J. R., Tavazzi L., Tendera M., Kaski J. P., Maggioni A. P., Rubis P. P., Jurcut R., Helio T., Calo L., Sinagra G., Zdravkovic M., Olivotto I., Kavoliuniene A., Laroche C., Caforio A. L. P., Charron P., Komissarova S., Chakova N., Niyazova S., Linhart A., Kuchynka P., Palecek T., Podzimkova J., Fikrle M., Nemecek E., Bundgaard H., Tfelt-Hansen J., Theilade J., Thune J. J., Axelsson A., Mogensen J., Henriksen F., Hey T., Nielsen S. K., Videbaek L., Andreasen S., Arnsted H., Saad A., Ali M., Lommi J., Nieminennew M. S., Dubourg O., Mansencal N., Arslan M., Siam Tsieu V., Damy T., Guellich A., Guendouz S., Tissot C. M., Lamine A., Rappeneau S., Hagege A., Desnos M., Bachet A., Hamzaoui M., Isnard R., Legrand L., Maupain C., Gandjbakhch E., Kerneis M., Pruny J. -F., Bauer A., Pfeiffer B., Felix S. B., Dorr M., Kaczmarek S., Lehnert K., Pedersen A. -L., Beug D., Bruder M., Bohm M., Kindermann I., Linicus Y., Werner C., Neurath B., Schild-Ungerbuehler M., Seggewiss H., Neugebauer A., McKeown P., Muir A., McOsker J., Jardine T., Divine G., Lorenzini M., Watkinson O., Wicks E., Iqbal H., Mohiddin S., O'Mahony C., Sekri N., Carr-White G., Bueser T., Rajani R., Clack L., Damm J., Jones S., Sanchez-Vidal R., Smith M., Walters T., Wilson K., Rosmini S., Anastasakis A., Ritsatos K., Vlagkouli V., Forster T., Sepp R., Borbas J., Nagy V., Tringer A., Kakonyi K., Szabo L. A., Maleki M., Noohi Bezanjani F., Amin A., Naderi N., Parsaee M., Taghavi S., Ghadrdoost B., Jafari S., Khoshavi M., Rapezzi C., Biagini E., Corsini A., Gagliardi C., Graziosi M., Longhi S., Milandri A., Ragni L., Palmieri S., Arretini A., Castelli G., Cecchi F., Fornaro A., Tomberli B., Spirito P., Devoto E., Della Bella P., Maccabelli G., Sala S., Guarracini F., Peretto G., Russo M. G., Calabro R., Pacileo G., Limongelli G., Masarone D., Pazzanese V., Rea A., Rubino M., Tramonte S., Valente F., Caiazza M., Cirillo A., Del Giorno G., Esposito A., Gravino R., Marrazzo T., Trimarco B., Losi M. -A., Di Nardo C., Giamundo A., Musella F., Pacelli F., Scatteia A., Canciello G., Caforio A., Iliceto S., Calore C., Leoni L., Perazzolo Marra M., Rigato I., Tarantini G., Schiavo A., Testolina M., Arbustini E., Di Toro A., Giuliani L. P., Serio A., Fedele F., Frustaci A., Alfarano M., Chimenti C., Drago F., Baban A., Lanzillo C., Martino A., Uguccioni M., Zachara E., Halasz G., Re F., Carriere C., Merlo M., Ramani F., Krivickiene A., Tamuleviciute-Prasciene E., Viezelis M., Celutkiene J., Balkeviciene L., Laukyte M., Paleviciute E., Pinto Y., Wilde A., Van Der Heijden J., Van Laake L., De Jonge N., Hassink R., Kirkels J. H., Ajuluchukwu J., Olusegun-Joseph A., Ekure E., Mizia-Stec K., Czekaj A., Sikora-Puz A., Skoczynska A., Wybraniec M., Rubis P., Dziewiecka E., Wisniowska-Smialek S., Bilinska Z., Chmielewski P., Foss-Nieradko B., Michalak E., Stepien-Wojno M., Mazek B., Rocha Lopes L., Almeida A. R., Cruz I., Gomes A. C., Pereira A. R., Brito D., Madeira H., Francisco A. R., Menezes M., Moldovan O., Oliveira Guimaraes T., Silva D., Ginghina C., Mursa A., Popescu B. A., Apetrei E., Militaru S., Mircea Coman I., Frigy A., Fogarasi Z., Kocsis I., Szabo I. A., Fehervari L., Nikitin I., Resnik E., Komissarova M., Lazarev V., Shebzukhova M., Ustyuzhanin D., Blagova O., Alieva I., Kulikova V., Lutokhina Y., Pavlenko E., Varionchik N., Ristic A. D., Seferovic P. M., Veljic I., Zivkovic I., Milinkovic I., Pavlovic A., Radovanovic G., Simeunovic D., Aleksic M., Djokic J., Hinic S., Klasnja S., Mircetic K., Monserrat L., Fernandez X., Garcia-Giustiniani D., Larranaga J. M., Ortiz-Genga M., Barriales-Villa R., Martinez-Veira C., Veira E., Cequier A., Salazar-Mendiguchia J., Manito N., Gonzalez J., Fernandez-Aviles F., Medrano C., Yotti R., Cuenca S., Espinosa M. A., Mendez I., Zatarain E., Alvarez R., Garcia-Pavia P., Briceno A., Cobo-Marcos M., Dominguez F., De Teresa Galvan E., Garcia Pinilla J. M., Abdeselam-Mohamed N., Lopez-Garrido M. A., Morcillo Hidalgo L., Ortega-Jimenez M. V., Robles Mezcua A., Guijarro-Contreras A., Gomez-Garcia D., Robles-Mezcua M., Gimeno Blanes J. R., Castro F. J., Munoz Esparza C., Sabater Molina M., Sorli Garcia M., Lopez Cuenca D., Ripoll-Vera T., Alvarez J., Nunez J., Gomez Y., Sanchez Fernandez P. L., Villacorta E., Avila C., Bravo L., Diaz-Pelaez E., Gallego-Delgado M., Garcia-Cuenllas L., Plata B., Lopez-Haldon J. E., Pena Pena M. L., Cantero Perez E. M., Zorio E., Arnau M. A., Sanz J., Marques-Sulex E., University Medical Center [Utrecht], University College of London [London] (UCL), Hospital Univeristario Virgen de la Arrixaca, University Hospital of Ferrara and Maria Cecilia Hospital, Medical University of Silesia, Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), Chair of Medical Biochemistry, Jagiellonian University - Medical College, Chair of Medical Biochemistry, Emergency Hospital Floreasca Bucharest, Emergency Hospital Floreasca Bucharest, 8 Calea Floresca, Sector 1, 014461 Bucharest, Romania, University of Helsinki, Policlinico Casilino (Ospedale Policlinico Casilino), University of Trieste, University of Belgrade [Belgrade], Careggi University Hospital, Lithuanian University of health Sciences [Kaunas], Universita degli Studi di Padova, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hospital Clínico Universitario Virgen de la Arrixaca = University Hospital Virgen de la Arrixaca [Murcia], Medical University of Silesia (SUM), Université Nice Sophia Antipolis (1965 - 2019) (UNS), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Università degli studi di Trieste = University of Trieste, Università degli Studi di Padova = University of Padua (Unipd), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), HAL-SU, Gestionnaire, Asselbergs, F. W., Sammani, A., Elliott, P., Gimeno, J. R., Tavazzi, L., Tendera, M., Kaski, J. P., Maggioni, A. P., Rubis, P. P., Jurcut, R., Helio, T., Calo, L., Sinagra, G., Zdravkovic, M., Olivotto, I., Kavoliuniene, A., Laroche, C., Caforio, A. L. P., Charron, P., Komissarova, S., Chakova, N., Niyazova, S., Linhart, A., Kuchynka, P., Palecek, T., Podzimkova, J., Fikrle, M., Nemecek, E., Bundgaard, H., Tfelt-Hansen, J., Theilade, J., Thune, J. J., Axelsson, A., Mogensen, J., Henriksen, F., Hey, T., Nielsen, S. K., Videbaek, L., Andreasen, S., Arnsted, H., Saad, A., Ali, M., Lommi, J., Nieminennew, M. S., Dubourg, O., Mansencal, N., Arslan, M., Siam Tsieu, V., Damy, T., Guellich, A., Guendouz, S., Tissot, C. M., Lamine, A., Rappeneau, S., Hagege, A., Desnos, M., Bachet, A., Hamzaoui, M., Isnard, R., Legrand, L., Maupain, C., Gandjbakhch, E., Kerneis, M., Pruny, J. -F., Bauer, A., Pfeiffer, B., Felix, S. B., Dorr, M., Kaczmarek, S., Lehnert, K., Pedersen, A. -L., Beug, D., Bruder, M., Bohm, M., Kindermann, I., Linicus, Y., Werner, C., Neurath, B., Schild-Ungerbuehler, M., Seggewiss, H., Neugebauer, A., Mckeown, P., Muir, A., Mcosker, J., Jardine, T., Divine, G., Lorenzini, M., Watkinson, O., Wicks, E., Iqbal, H., Mohiddin, S., O'Mahony, C., Sekri, N., Carr-White, G., Bueser, T., Rajani, R., Clack, L., Damm, J., Jones, S., Sanchez-Vidal, R., Smith, M., Walters, T., Wilson, K., Rosmini, S., Anastasakis, A., Ritsatos, K., Vlagkouli, V., Forster, T., Sepp, R., Borbas, J., Nagy, V., Tringer, A., Kakonyi, K., Szabo, L. A., Maleki, M., Noohi Bezanjani, F., Amin, A., Naderi, N., Parsaee, M., Taghavi, S., Ghadrdoost, B., Jafari, S., Khoshavi, M., Rapezzi, C., Biagini, E., Corsini, A., Gagliardi, C., Graziosi, M., Longhi, S., Milandri, A., Ragni, L., Palmieri, S., Arretini, A., Castelli, G., Cecchi, F., Fornaro, A., Tomberli, B., Spirito, P., Devoto, E., Della Bella, P., Maccabelli, G., Sala, S., Guarracini, F., Peretto, G., Russo, M. G., Calabro, R., Pacileo, G., Limongelli, G., Masarone, D., Pazzanese, V., Rea, A., Rubino, M., Tramonte, S., Valente, F., Caiazza, M., Cirillo, A., Del Giorno, G., Esposito, A., Gravino, R., Marrazzo, T., Trimarco, B., Losi, M. -A., Di Nardo, C., Giamundo, A., Musella, F., Pacelli, F., Scatteia, A., Canciello, G., Caforio, A., Iliceto, S., Calore, C., Leoni, L., Perazzolo Marra, M., Rigato, I., Tarantini, G., Schiavo, A., Testolina, M., Arbustini, E., Di Toro, A., Giuliani, L. P., Serio, A., Fedele, F., Frustaci, A., Alfarano, M., Chimenti, C., Drago, F., Baban, A., Lanzillo, C., Martino, A., Uguccioni, M., Zachara, E., Halasz, G., Re, F., Carriere, C., Merlo, M., Ramani, F., Krivickiene, A., Tamuleviciute-Prasciene, E., Viezelis, M., Celutkiene, J., Balkeviciene, L., Laukyte, M., Paleviciute, E., Pinto, Y., Wilde, A., Van Der Heijden, J., Van Laake, L., De Jonge, N., Hassink, R., Kirkels, J. H., Ajuluchukwu, J., Olusegun-Joseph, A., Ekure, E., Mizia-Stec, K., Czekaj, A., Sikora-Puz, A., Skoczynska, A., Wybraniec, M., Rubis, P., Dziewiecka, E., Wisniowska-Smialek, S., Bilinska, Z., Chmielewski, P., Foss-Nieradko, B., Michalak, E., Stepien-Wojno, M., Mazek, B., Rocha Lopes, L., Almeida, A. R., Cruz, I., Gomes, A. C., Pereira, A. R., Brito, D., Madeira, H., Francisco, A. R., Menezes, M., Moldovan, O., Oliveira Guimaraes, T., Silva, D., Ginghina, C., Mursa, A., Popescu, B. A., Apetrei, E., Militaru, S., Mircea Coman, I., Frigy, A., Fogarasi, Z., Kocsis, I., Szabo, I. A., Fehervari, L., Nikitin, I., Resnik, E., Komissarova, M., Lazarev, V., Shebzukhova, M., Ustyuzhanin, D., Blagova, O., Alieva, I., Kulikova, V., Lutokhina, Y., Pavlenko, E., Varionchik, N., Ristic, A. D., Seferovic, P. M., Veljic, I., Zivkovic, I., Milinkovic, I., Pavlovic, A., Radovanovic, G., Simeunovic, D., Aleksic, M., Djokic, J., Hinic, S., Klasnja, S., Mircetic, K., Monserrat, L., Fernandez, X., Garcia-Giustiniani, D., Larranaga, J. M., Ortiz-Genga, M., Barriales-Villa, R., Martinez-Veira, C., Veira, E., Cequier, A., Salazar-Mendiguchia, J., Manito, N., Gonzalez, J., Fernandez-Aviles, F., Medrano, C., Yotti, R., Cuenca, S., Espinosa, M. A., Mendez, I., Zatarain, E., Alvarez, R., Garcia-Pavia, P., Briceno, A., Cobo-Marcos, M., Dominguez, F., De Teresa Galvan, E., Garcia Pinilla, J. M., Abdeselam-Mohamed, N., Lopez-Garrido, M. A., Morcillo Hidalgo, L., Ortega-Jimenez, M. V., Robles Mezcua, A., Guijarro-Contreras, A., Gomez-Garcia, D., Robles-Mezcua, M., Gimeno Blanes, J. R., Castro, F. J., Munoz Esparza, C., Sabater Molina, M., Sorli Garcia, M., Lopez Cuenca, D., Ripoll-Vera, T., Alvarez, J., Nunez, J., Gomez, Y., Sanchez Fernandez, P. L., Villacorta, E., Avila, C., Bravo, L., Diaz-Pelaez, E., Gallego-Delgado, M., Garcia-Cuenllas, L., Plata, B., Lopez-Haldon, J. E., Pena Pena, M. L., Cantero Perez, E. M., Zorio, E., Arnau, M. A., Sanz, J., Marques-Sulex, E., Cardiology, ACS - Heart failure & arrhythmias, HUS Heart and Lung Center, Clinicum, Department of Medicine, Kardiologian yksikkö, Helsinki University Hospital Area, and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)

Subjects
Registrie, lcsh:Diseases of the circulatory (Cardiovascular) system, EUROBSERVATIONAL RESEARCH-PROGRAM, Dilated cardiomyopathy, Europe, Familial, Genetic, Prognosis, Sporadic, Adult, Humans, Prospective Studies, Registries, Cardiomyopathies, Cardiomyopathy, Dilated, Myocarditis, Cardiomyopathy, 030204 cardiovascular system & hematology, 0302 clinical medicine, Original Research Articles, Dilated, PILOT, Original Research Article, 030212 general & internal medicine, Prospective cohort study, Ejection fraction, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, medicine.diagnostic_test, Guideline adherence, 3. Good health, Cardiology and Cardiovascular Medicine, Human, medicine.medical_specialty, Prognosi, FREQUENCY, 03 medical and health sciences, Internal medicine, medicine, Cardiomyopathie, Genetic testing, business.industry, medicine.disease, Prospective Studie, lcsh:RC666-701, 3121 General medicine, internal medicine and other clinical medicine, Heart failure, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

International audience; AimsDilated cardiomyopathy (DCM) is a complex disease where genetics interplay with extrinsic factors. This study aims to compare the phenotype, management, and outcome of familial DCM (FDCM) and non‐familial (sporadic) DCM (SDCM) across Europe.Methods and resultsPatients with DCM that were enrolled in the prospective ESC EORP Cardiomyopathy & Myocarditis Registry were included. Baseline characteristics, genetic testing, genetic yield, and outcome were analysed comparing FDCM and SDCM; 1260 adult patients were studied (238 FDCM, 707 SDCM, and 315 not disclosed). Patients with FDCM were younger (P < 0.01), had less severe disease phenotype at presentation (P < 0.02), more favourable baseline cardiovascular risk profiles (P ≤ 0.007), and less medication use (P ≤ 0.042). Outcome at 1 year was similar and predicted by NYHA class (HR 0.45; 95% CI [0.25–0.81]) and LVEF per % decrease (HR 1.05; 95% CI [1.02–1.08]. Throughout Europe, patients with FDCM received more genetic testing (47% vs. 8%, P < 0.01) and had higher genetic yield (55% vs. 22%, P < 0.01).ConclusionsWe observed that FDCM and SDCM have significant differences at baseline but similar short‐term prognosis. Whether modification of associated cardiovascular risk factors provide opportunities for treatment remains to be investigated. Our results also show a prevalent role of genetics in FDCM and a non‐marginal yield in SDCM although genetic testing is largely neglected in SDCM. Limited genetic testing and heterogeneity in panels provides a scaffold for improvement of guideline adherence.

Published
2021
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20. Clinical, Genetic, and Epidemiological Characteristics of Ar-Rhythmogenic Cardiomyopathy Associated With the Pathogenic Founder Variant NP_00454563.2 (p.Glu259Glyfs*77) in Gene PKP2

Author

Robles-Mezcua, Ainhoa, primary, Ruiz-Salas, Amalio, additional, Medina-Palomo, Carmen, additional, Robles-Mezcua, María, additional, Díaz-Expósito, Arancha, additional, Ortega-Jiménez, María Victoria, additional, Gimeno-Blanes, Juan Ramón, additional, Jiménez-Navarro, Manuel, additional, and García-Pinilla, José Manuel, additional

Published
2023
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21. Clinical, Genetic, and Epidemiological Characteristics of Ar-Rhythmogenic Cardiomyopathy Associated With the Pathogenic Founder Variant NP_00454563.2 (p.Glu259Glyfs*77) in Gene PKP2

Author

Ainhoa Robles-Mezcua, Amalio Ruiz-Salas, Carmen Medina-Palomo, María Robles-Mezcua, Arancha Díaz-Expósito, María Victoria Ortega-Jiménez, Juan Ramón Gimeno-Blanes, Manuel Jiménez-Navarro, and José Manuel García-Pinilla

Abstract

Introduction and objectives: arrhythmogenic cardiomyopathy (ACM) is a hereditary heart disease defined by the progressive replacement of the ventricular myocardium with fibroadipose tissue, which can act as a substrate for arrhythmias, sudden death, or even give rise to heart failure (HF). Sudden death is frequently the first manifestation of the disease, particularly among young patients. The aim of this study is to describe a new pathogenic variant in the PKP2 gene. Methods: A descriptive observational study that included 8 initially non-interrelated families with a diagnosis of ACM undergoing follow-up at our HF and Familial Cardiomyopathies Unit, who were carriers of the NM_004572.3:c.775_776insG; p. (Glu259Glyfs*77) variant in PKP2 gene. The genetic testing employed next-generation sequencing for the index cases, and the Sanger method for the targeted study with family members. We compiled personal and family histories, demographic and clinical characteristics, data from the additional tests at the time of diagnosis, and arrhythmic events at diagnosis and during follow-up. Results: We included 47 subjects, of whom 8 were index cases (17%). Among the evaluated family members, 16 (34%) were carriers of the genetic variant, 3 of whom also had a diagnosis of ACM. The majority were women (26 patients; 55.3%), with a mean age on diagnosis of 48.9 ± 18.6 years, and a median follow-up of 39 [24-59] months. Worthy of note are the high incidence of arrhythmic events as the form of presentation and in follow-up (21.5% and 20.9% respectively), and the onset of HF in 25% of the sample. The most frequent ventricular involvements were right (4 patients 16.7%) and biventricular (4 patients 16.7%); we found no statistical differences in any of the variables analysed. Conclusions: This variant is a pathogenic variant of gene PKP2 that has not previously been described and is not present in the control groups associated with ACM. It has incomplete penetrance, a highly variable phenotypic expressivity, and was identified in 8 families of our geographical area in Malaga (Andalusia, Spain), where we can establish a founder effect and describe the clinical and risk characteristics.

Published
2023
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22. Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy: genotype–phenotype correlation

Author

de Frutos, Fernando, primary, Ochoa, Juan Pablo, additional, Fernández, Ana Isabel, additional, Gallego-Delgado, María, additional, Navarro-Peñalver, Marina, additional, Casas, Guillem, additional, Basurte, María Teresa, additional, Larrañaga-Moreira, José María, additional, Mogollón, María Victoria, additional, Robles-Mezcua, Ainhoa, additional, García-Granja, Pablo Elpidio, additional, Climent, Vicente, additional, Palomino-Doza, Julián, additional, García-Álvarez, Ana, additional, Brion, María, additional, Brugada, Ramón, additional, Jiménez-Jáimez, Juan, additional, Bayes-Genis, Antoni, additional, Ripoll-Vera, Tomas, additional, Peña-Peña, María Luisa, additional, Rodríguez-Palomares, José F, additional, Gonzalez-Carrillo, Josefa, additional, Villacorta, Eduardo, additional, Espinosa, Maria Angeles, additional, Garcia-Pavia, Pablo, additional, and Mirelis, Jesus G, additional

Published
2023
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26. Emery–Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure

Author

Martínez-Veira, Cristina, Cannie, Douglas E., Syrris, Petros, Protonotarios, Alexandros, Bakalakos, Athanasios, Pruny, Jean-François, Ditaranto, Rafaello, Larrañaga-Moreira, José María, Medo, Kristen, Bermúdez-Jiménez, Francisco J., Ben Yaou, Rabah, Leturcq, France, Robles-Mezcua, Ainhoa, Marini-Betolo, Chiara, Cabrera, Eva, Reuter, Chloe, Limeres-Freire, Javier, Rodríguez-Palomares, José Fernando, Mestroni, Luisa, Taylor, Matthew R. G., Parikh, Victoria N., Ashley, Euan A., Barriales-Villa, Roberto, Jiménez-Jáimez, Juan, García-Pavía, Pablo, Charron, Philippe, Biagini, Elena, García-Pinilla, José Manuel, Bourke, John, Savvatis, Konstantinos, Wahbi, Karim, Elliott, Perry M., Martínez-Veira, Cristina, Cannie, Douglas E., Syrris, Petros, Protonotarios, Alexandros, Bakalakos, Athanasios, Pruny, Jean-François, Ditaranto, Rafaello, Larrañaga-Moreira, José María, Medo, Kristen, Bermúdez-Jiménez, Francisco J., Ben Yaou, Rabah, Leturcq, France, Robles-Mezcua, Ainhoa, Marini-Betolo, Chiara, Cabrera, Eva, Reuter, Chloe, Limeres-Freire, Javier, Rodríguez-Palomares, José Fernando, Mestroni, Luisa, Taylor, Matthew R. G., Parikh, Victoria N., Ashley, Euan A., Barriales-Villa, Roberto, Jiménez-Jáimez, Juan, García-Pavía, Pablo, Charron, Philippe, Biagini, Elena, García-Pinilla, José Manuel, Bourke, John, Savvatis, Konstantinos, Wahbi, Karim, and Elliott, Perry M.

Abstract

[Abstract] Emery–Dreifuss muscular dystrophy (EDMD) is caused by variants in EMD (EDMD1) and LMNA (EDMD2). Cardiac conduction defects and atrial arrhythmia are common to both, but LMNA variants also cause end-stage heart failure (ESHF) and malignant ventricular arrhythmia (MVA). This study aimed to better characterize the cardiac complications of EMD variants. Methods Consecutively referred EMD variant-carriers were retrospectively recruited from 12 international cardiomyopathy units. MVA and ESHF incidences in male and female variant-carriers were determined. Male EMD variant-carriers with a cardiac phenotype at baseline (EMDCARDIAC) were compared with consecutively recruited male LMNA variant-carriers with a cardiac phenotype at baseline (LMNACARDIAC). Results Longitudinal follow-up data were available for 38 male and 21 female EMD variant-carriers [mean (SD) ages 33.4 (13.3) and 43.3 (16.8) years, respectively]. Nine (23.7%) males developed MVA and five (13.2%) developed ESHF during a median (inter-quartile range) follow-up of 65.0 (24.3–109.5) months. No female EMD variant-carrier had MVA or ESHF, but nine (42.8%) developed a cardiac phenotype at a median (inter-quartile range) age of 58.6 (53.2–60.4) years. Incidence rates for MVA were similar for EMDCARDIAC and LMNACARDIAC (4.8 and 6.6 per 100 person-years, respectively; log-rank P = .49). Incidence rates for ESHF were 2.4 and 5.9 per 100 person-years for EMDCARDIAC and LMNACARDIAC, respectively (log-rank P = .09). Conclusions Male EMD variant-carriers have a risk of progressive heart failure and ventricular arrhythmias similar to that of male LMNA variant-carriers. Early implantable cardioverter defibrillator implantation and heart failure drug therapy should be considered in male EMD variant-carriers with cardiac disease.

Published
2023

27. Sacubitril/valsartan treatment: effect on left ventricular remodelling and fibrosis assessed by novel heart failure biomarkers

Author

A Robles Mezcua, A Diaz Exposito, M Robles Mezcua, C Cruzado Alvarez, M Jimenez Navarro, and J M Garcia Pinilla

Subjects
Cardiology and Cardiovascular Medicine
Abstract

Background In patients with heart failure and reduced ejection fraction (HFrEF), treatment with sacubitril-valsartan (SAC/VAL) reduces N-terminal B-type natriuretic peptide (NT-proBNP) levels and appears to have a beneficial effect on ventricular remodelling (VR), although the mechanism of this effect has yet to be established. ST2 is a novel biomarker reflecting inflammation and haemodynamic stress, closely related to the pathophysiology of heart failure (HF), fibrosis and VR. Several studies have shown that elevated levels of ST2 are associated with increased risk of developing HF and worse prognosis, being an independent predictor of adverse clinical outcomes, and even establishing a correlation with clinical changes and NT-proBNP levels. Purpose To evaluate the effect of SAC/VAL treatment on left ventricular remodelling and fibrosis in patients with HFrEF by monitoring ST2 and NTproBNP levels during follow-up. Methods Prospective single-centre, open-label, single-group, prospective study including patients with HFrEF and NYHA functional class II–IV, under follow-up in our HF Unit from April 2018 to July 2020 with a 12-month follow-up for each patient. Biomarker measurements and echocardiography were performed at baseline, 6 and 12 months after initiation of SAC/VAL treatment. In addition, cardiac magnetic resonance imaging (CMRI) was performed at baseline and after 12 months of treatment. Results 68 patients were included (mean age 65.63±11.78 years; 29.4% female). Baseline characteristics are shown in table 1. The mean baseline NT-proBNP and ST2s concentration was 2238.24±2148.65 pg/mL and 42.31±28.38 ng/mL respectively, with a statistically significant reduction after 12 months with SAC/VAL (NTproBNP 701.65±778.13 pg/mL and ST2 30.22±9.70 ng/mL; p Conclusion SAC/VAL treatment is associated with a reduction in NT-proBNP and ST2 concentrations which seems to support its beneficial effect on ventricular remodelling, allowing its monitoring to assess the evolution and prognosis of HF patients. Funding Acknowledgement Type of funding sources: Other. Main funding source(s): Novartis

Published
2022
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28. Late gadolinium enhancement distribution patterns in non-ischaemic dilated cardiomyopathy: genotype–phenotype correlation.

Author

Frutos, Fernando de, Ochoa, Juan Pablo, Fernández, Ana Isabel, Gallego-Delgado, María, Navarro-Peñalver, Marina, Casas, Guillem, Basurte, María Teresa, Larrañaga-Moreira, José María, Mogollón, María Victoria, Robles-Mezcua, Ainhoa, García-Granja, Pablo Elpidio, Climent, Vicente, Palomino-Doza, Julián, García-Álvarez, Ana, Brion, María, Brugada, Ramón, Jiménez-Jáimez, Juan, Bayes-Genis, Antoni, Ripoll-Vera, Tomas, and Peña-Peña, María Luisa

Subjects
RESEARCH, KRUSKAL-Wallis Test, VENTRICULAR ejection fraction, SEQUENCE analysis, ANALYSIS of variance, GENETIC testing, MAGNETIC resonance imaging, CONTRAST media, GENETIC variation, MANN Whitney U Test, FISHER exact test, DIAGNOSTIC imaging, T-test (Statistics), DILATED cardiomyopathy, GENOTYPES, VENTRICULAR arrhythmia, RESEARCH funding, DESCRIPTIVE statistics, CHI-squared test, KAPLAN-Meier estimator, DISEASE prevalence, ELECTROCARDIOGRAPHY, DATA analysis software, PHENOTYPES, PROPORTIONAL hazards models, DISEASE risk factors
Abstract

Aims Late gadolinium enhancement (LGE) is frequently found in patients with dilated cardiomyopathy (DCM); there is little information about its frequency and distribution pattern according to the underlying genetic substrate. We sought to describe LGE patterns according to genotypes and to analyse the risk of major ventricular arrhythmias (MVA) according to patterns. Methods and results Cardiac magnetic resonance findings and LGE distribution according to genetics were performed in a cohort of 600 DCM patients followed at 20 Spanish centres. After exclusion of individuals with multiple causative gene variants or with variants in infrequent DCM-causing genes, 577 patients (34% females, mean age 53.5 years, left ventricular ejection fraction 36.9 ± 13.9%) conformed to the final cohort. A causative genetic variant was identified in 219 (38%) patients, and 147 (25.5%) had LGE. Significant differences were found comparing LGE patterns between genes (P < 0.001). LGE was absent or rare in patients with variants in TNNT2 , RBM20 , and MYH7 (0, 5, and 20%, respectively). Patients with variants in DMD , DSP , and FLNC showed a predominance of LGE subepicardial patterns (50, 41, and 18%, respectively), whereas patients with variants in TTN , BAG3 , LMNA , and MYBPC3 showed unspecific LGE patterns. The genetic yield differed according to LGE patterns. Patients with subepicardial, lineal midwall, transmural, and right ventricular insertion points or with combinations of LGE patterns showed an increased risk of MVA compared with patients without LGE. Conclusion LGE patterns in DCM have a specific distribution according to the affected gene. Certain LGE patterns are associated with an increased risk of MVA and with an increased yield of genetic testing. [ABSTRACT FROM AUTHOR]

Published
2024
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32. Natural History of MYH7-Related Dilated Cardiomyopathy

Author

Fernando de Frutos, Juan Pablo Ochoa, Marina Navarro-Peñalver, Annette Baas, Jesper Vandborg Bjerre, Esther Zorio, Irene Méndez, Rebeca Lorca, Job A.J. Verdonschot, Pablo Elpidio García-Granja, Zofia Bilinska, Diane Fatkin, M. Eugenia Fuentes-Cañamero, José M. García-Pinilla, María I. García-Álvarez, Francesca Girolami, Roberto Barriales-Villa, Carles Díez-López, Luis R. Lopes, Karim Wahbi, Ana García-Álvarez, Ibon Rodríguez-Sánchez, Javier Rekondo-Olaetxea, José F. Rodríguez-Palomares, María Gallego-Delgado, Benjamin Meder, Milos Kubanek, Frederikke G. Hansen, María Alejandra Restrepo-Córdoba, Julián Palomino-Doza, Luis Ruiz-Guerrero, Georgia Sarquella-Brugada, Alberto José Perez-Perez, Francisco José Bermúdez-Jiménez, Tomas Ripoll-Vera, Torsten Bloch Rasmussen, Mark Jansen, Maria Sabater-Molina, Perry M. Elliot, Pablo Garcia-Pavia, Eva Cabrera-Romero, Marta Cobo-Marcos, Luis Escobar-Lopez, Fernando Domínguez, Esther González-López, Juan Ramón Gimeno-Blanes, Dennis Dooijes, Bernabé López Ledesma, Inés Roche Fortea, Javier Bermejo, Maria Angeles Espinosa, Ana Isabel Fernández, Silvia Vilches, Cristina Gómez, Juan Gómez, Eliecer Coto, José Julián Rodríguez Reguero, S.R.B. Heymans, H.G. Brunner, Javier López-Díaz, Grażyna Truszkowska, Rafal Ploski, Przemysław Chmielewski, Renee Johnson, Ainhoa Robles-Mezcua, Arancha Díaz-Expósito, Alejandro I. Pérez-Cabeza, Clara Jiménez-Rubio, Vicente Climent Payá, Silvia Favilli, Petros Syrris, Douglas Cannie, Clarisse Billon, Angela Lopez-Sainz, Margarita Calvo, Ángela Cacicedo Fernández de Bobadilla, Jose Juan Onaindia-Gandarias, Larraitz Gaztañaga-Arantzamendi, Estibaliz Zamarreño-Golvano, Javier Limeres, Laura Gutiérrez-García, Eduardo Villacorta, Jan Haas, Alice Krebsova, Jens Mogensen, Sergi Cesar, Oscar Campuzano, Raúl Franco Gutiérrez, Jorge Alvarez-Rubio, David Cremer-Luengos, Guido Antoniutti, Fiama Caimi-Martinez, Rosa Macías, Juan Jiménez-Jáimez, María Luisa Peña-Peña, Salvador Lucas Díez-Aja López, Tania Pino Acereda, Blanca Arnáez Corada, Jesús Piqueras-Flores, Martin Negreira-Caamaño, Jorge Martinez-del Río, María Victoria Mogollón Jiménez, Elena Villanueva, José Luis Gonzáles, Adrián Fernández, Ulises Toscanini, Lilian E. Favaloro, Carlota Hernández Díez, MUMC+: DA KG Lab Bedrijfsbureau (9), MUMC+: DA KG AIOS (9), RS: Carim - H02 Cardiomyopathy, Instituto de Salud Carlos III, Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF), Ministerio de Ciencia e Innovación (España), Fundación ProCNIC, Ministerio de Ciencia e Innovación. Centro de Excelencia Severo Ochoa (España), European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart, ERA-CVD framework, Dutch Heart Foundation, Victor Chang Cardiac Research Institute, NSW Health, Clinical Academic Research Partnerships (CARP), Deutsches Zentrum für Herz-Kreislauf-Forschung (German Center for Cardiovascular Research), Informatics for Life (Klaus Tschira Foundation), Ministry of Health, Czech Republic, and Institute for Clinical and Experimental Medicine–IKEM

Subjects
Adult, Cardiomyopathy, Dilated, Heart Failure, Male, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Myocardiopathies, Adolescent, Myosin Heavy Chains, Ventricular Remodeling, Miocardiopaties, Arrhythmias, Cardiac, Middle Aged, dilated cardiomyopathy, Young Adult, Phenotype, MYH7, Genetics, Humans, Female, genetics, Cardiology and Cardiovascular Medicine, Cardiac Myosins, Genètica
Abstract

Instituto de Salud Carlos III (ISCIII), European Regional Development Fund/European Social Fund "A way to make Europe"/" Investing in your future" [PI18/0004, PI20/0320, PT17/0015/0043]; ISCIII; MCIN; Pro-CNIC Foundation; Severo Ochoa Centers of Excellence program [CEX2020-001041-S]; ISCIII [CM20/00101], Frutos F. de, Ochoa JP, Navarro-Peñalver M, Baas A, Bjerre JV, Zorio E, Méndez I, Lorca R, Verdonschot JAJ, García-Granja PE, Bilinska Z, Fatkin D, Fuentes-Cañamero ME, García-Pinilla JM, García-Álvarez MI, Girolami F, Barriales-Villa R, Díez-López C, Lopes LR, Wahbi K, García-Álvarez A, Rodríguez-Sánchez I, Rekondo-Olaetxea J, Rodríguez-Palomares JF, Gallego-Delgado M, Meder B, Kubanek M, Hansen FG, Restrepo-Córdoba MA, Palomino-Doza J, Ruiz-Guerrero L, Sarquella-Brugada G, Perez-Perez AJ, Bermúdez-Jiménez FJ, Ripoll-Vera T, Rasmussen TB, Jansen M, Sabater-Molina M, Elliot PM, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators

Published
2022
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35. Plan de cuidados relacionado con el proceso asistencial integrado atención a las personas fumadoras

Author

María Robles Mezcua, María Jesús Samaniego Ruiz, and Jacobo Cambil Martín

Subjects
atención primaria de salud, enfermería en salud comunitaria, hábito de fumar, planificación de atención al paciente, tabaco, Medicine (General), R5-920
Abstract

El tabaco es una de las drogas legales más consumidas en el mundo y un importante factor de riesgo de morbi-mortalidad asociado a diferentes enfermedades. Se describe el caso de un paciente que acude a la consulta de enfermería de su centro de salud, detectado como consumidor de tabaco y captado para realizar un plan de cuidados mediante el Proceso Asistencial Integrado de Atención a Personas Fumadoras. Los principales diagnósticos de enfermería se relacionaron con una tendencia a adoptar conductas de riesgo para la salud, conflicto de decisiones (dejar de fumar) y disposición para mejorar los conocimientos. Se desarrollaron medidas como la terapia de grupo, además de la reducción del consumo de nicotina diaria hasta su completa eliminación. Este proceso constituye una herramienta de ayuda para seguir trabajando en una atención sanitaria centrada en el paciente.

Published
2017
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36. Case report on ambulatory pulmonary pressure monitoring: an attempt to reduce readmissions for heart failure with preserved ejection fraction

Author

María Angullo-Gómez, Ainhoa Robles-Mezcua, Víctor Manuel Becerra-Muñoz, and José Manuel García-Pinilla

Subjects
Pulmonary artery pressure monitoring, Case report, Heart failure, Preserved ejection fraction, Decompensated, Cardiology and Cardiovascular Medicine
Abstract

Background Despite many recent advances in heart failure (HF) therapies, there remains an unmet need in patients with HF with preserved ejection fraction (HFpEF) for adequate treatment and follow-up, with the potential to reduce associated mortality and morbidity. Increased intracardiac and intrapulmonary pressures have been shown to precede the onset of symptoms of decompensated HF by several days or even weeks, so there have been several attempts to influence the prognosis of HF by monitoring through various methods. One of these is ambulatory pulmonary pressure monitoring to guide treatment in anticipation of decompensation. Case summary We present the case of a 65-year-old woman with rheumatic valve disease and mechanical aortic and mitral prosthesis since 2003 and pacemaker since 2014, with development of severe tricuspid regurgitation in 2018 and with new valve implantation and multiple decompensations of HFpEF despite optimal medical treatment. Under follow-up in the Heart Failure Unit and after multiple unsuccessful treatment adjustments, it was decided to implant a pulmonary artery pressure monitoring device—CardioMEMS®—in order to optimize patient follow-up and treatment. The procedure was carried out without complications and early optimization of treatment was possible, resulting in a significant reduction in decompensations and admissions for HF. Discussion Ambulatory pulmonary pressure monitoring is shown to be a safe and effective option to anticipate treatment of heart failure decompensation even with preserved left ventricular ejection fraction, with a significantly positive impact on hospital readmissions and consequent benefit on morbidity and mortality.

Published
2022
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37. Association between common cardiovascular risk factors and clinical phenotype in patients with hypertrophic cardiomyopathy from the European Society of Cardiology (ESC) EurObservational Research Programme (EORP) Cardiomyopathy/Myocarditis registry

Author

Lopes, Luis R, Losi, Maria-Angela, Sheikh, Nabeel, Laroche, Cécile, Charron, Philippe, Gimeno, Juan, Kaski, Juan P, Maggioni, Aldo P, Tavazzi, Luigi, Arbustini, Eloisa, Brito, Dulce, Celutkiene, Jelena, Hagege, Albert, Linhart, Ales, Mogensen, Jens, Garcia-Pinilla, José Manuel, Ripoll-Vera, Tomas, Seggewiss, Hubert, Villacorta, Eduardo, Caforio, Alida, Elliott, Perry M, Komissarova, S, Chakova, N, Niyazova, S, Linhart, A, Kuchynka, P, Palecek, T, Podzimkova, J, Fikrle, M, Nemecek, E, Bundgaard, H, Tfelt-Hansen, J, Theilade, J, Thune, J J, Axelsson, A, Mogensen, J, Henriksen, F, Hey, T, Nielsen, S K, Videbaek, L, Andreasen, S, Arnsted, H, Saad, A, Ali, M, Lommi, J, Helio, T, Nieminen, M S, Dubourg, O, Mansencal, N, Arslan, M, Tsieu, V Siam, Damy, T, Guellich, A, Guendouz, S, Tissot, C M, Lamine, A, Rappeneau, S, Hagege, A, Desnos, M, Bachet, A, Hamzaoui, M, Charron, P, Isnard, R, Legrand, L, Maupain, C, Gandjbakhch, E, Kerneis, M, Pruny, J-F, Bauer, A, Pfeiffer, B, Felix, S B, Dorr, M, Kaczmarek, S, Lehnert, K, Pedersen, A-L, Beug, D, Bruder, M, Böhm, M, Kindermann, I, Linicus, Y, Werner, C, Neurath, B, Schild-Ungerbuehler, M, Seggewiss, H, Neugebauer, A, Mckeown, P, Muir, A, Mcosker, J, Jardine, T, Divine, G, Elliott, P, Lorenzini, M, Watkinson, O, Wicks, E, Iqbal, H, Mohiddin, S, O'Mahony, C, Sekri, N, Carr-White, G, Bueser, T, Rajani, R, Clack, L, Damm, J, Jones, S, Sanchez-Vidal, R, Smith, M, Walters, T, Wilson, K, Rosmini, S, Anastasakis, A, Ritsatos, K, Vlagkouli, V, Forster, T, Sepp, R, Borbas, J, Nagy, V, Tringer, A, Kakonyi, K, Szabo, L A, Maleki, M, Bezanjani, F Noohi, Amin, A, Naderi, N, Parsaee, M, Taghavi, S, Ghadrdoost, B, Jafari, S, Khoshavi, M, Rapezzi, C, Biagini, E, Corsini, A, Gagliardi, C, Graziosi, M, Longhi, S, Milandri, A, Ragni, L, Palmieri, S, Olivotto, I, Arretini, A, Castelli, G, Cecchi, F, Fornaro, A, Tomberli, B, Spirito, P, Devoto, E, Bella, P Della, Maccabelli, G, Sala, S, Guarracini, F, Peretto, G, Russo, M G, Calabro, R, Pacileo, G, Limongelli, G, Masarone, D, Pazzanese, V, Rea, A, Rubino, M, Tramonte, S, Valente, F, Caiazza, M, Cirillo, A, Del Giorno, G, Esposito, A, Gravino, R, Marrazzo, T, Trimarco, B, Losi, M-A, Nardo, C Di, Giamundo, A, Musella, F, Pacelli, F, Scatteia, A, Canciello, G, Caforio, A, Iliceto, S, Calore, C, Leoni, L, Marra, M Perazzolo, Rigato, I, Tarantini, G, Schiavo, A, Testolina, M, Arbustini, E, Toro, A Di, Giuliani, L P, Serio, A, Fedele, F, Frustaci, A, Alfarano, M, Chimenti, C, Drago, F, Baban, A, Calò, L, Lanzillo, C, Martino, A, Uguccioni, M, Zachara, E, Halasz, G, Re, F, Sinagra, G, Carriere, C, Merlo, M, Ramani, F, Kavoliuniene, A, Krivickiene, A, Tamuleviciute-Prasciene, E, Viezelis, M, Celutkiene, J, Balkeviciene, L, Laukyte, M, Paleviciute, E, Pinto, Y, Wilde, A, Asselbergs, F W, Sammani, A, Van Der Heijden, J, Van Laake, L, De Jonge, N, Hassink, R, Kirkels, J H, Ajuluchukwu, J, Olusegun-Joseph, A, Ekure, E, Mizia-Stec, K, Tendera, M, Czekaj, A, Sikora-Puz, A, Skoczynska, A, Wybraniec, M, Rubis, P, Dziewiecka, E, Wisniowska-Smialek, S, Bilinska, Z, Chmielewski, P, Nieradko, B Foss, Michalak, E, Stepien-Wojno, M, Mazek, B, Lopes, L Rocha, Almeida, A R, Cruz, I, Gomes, A C, Pereira, A R, Brito, D, Madeira, H, Francisco, A R, Menezes, M, Moldovan, O, Guimaraes, T Oliveira, Silva, D, Ginghina, C, Jurcut, R, Mursa, A, Popescu, B A, Apetrei, E, Militaru, S, Coman, I Mircea, Frigy, A, Fogarasi, Z, Kocsis, I, Szabo, I A, Fehervari, L, Nikitin, I, Resnik, E, Komissarova, M, Lazarev, V, Shebzukhova, M, Ustyuzhanin, D, Blagova, O, Alieva, I, Kulikova, V, Lutokhina, Y, Pavlenko, E, Varionchik, N, Ristic, A D, Seferovic, P M, Veljic, I, Zivkovic, I, Milinkovic, I, Pavlovic, A, Radovanovic, G, Simeunovic, D, Zdravkovic, M, Aleksic, M, Djokic, J, Hinic, S, Klasnja, S, Mircetic, K, Monserrat, L, Fernandez, X, Garcia-Giustiniani, D, Larrañaga, J M, Ortiz-Genga, M, Barriales-Villa, R, Martinez-Veira, C, Veira, E, Cequier, A, Salazar-Mendiguchia, J, Manito, N, Gonzalez, J, Fernández-Avilés, F, Medrano, C, Yotti, R, Cuenca, S, Espinosa, M A, Mendez, I, Zatarain, E, Alvarez, R, Pavia, P Garcia, Briceno, A, Cobo-Marcos, M, Dominguez, F, Galvan, E De Teresa, Pinilla, J M García, Abdeselam-Mohamed, N, Lopez-Garrido, M A, Hidalgo, L Morcillo, Ortega-Jimenez, M V, Mezcua, A Robles, Guijarro-Contreras, A, Gomez-Garcia, D, Robles-Mezcua, M, Blanes, J R Gimeno, Castro, F J, Esparza, C Munoz, Molina, M Sabater, García, M Sorli, Cuenca, D Lopez, Ripoll-Vera, T, Alvarez, J, Nunez, J, Gomez, Y, Fernandez, P L Sanchez, Villacorta, E, Avila, C, Bravo, L, Diaz-Pelaez, E, Gallego-Delgado, M, Garcia-Cuenllas, L, Plata, B, Lopez-Haldon, J E, Pena Pena, M L, Perez, E M Cantero, Zorio, E, Arnau, M A, Sanz, J, Marques-Sule, E, Gale, Christopher Peter, Beleslin, Branko, Budaj, Andrzej, Chioncel, Ovidiu, Dagres, Nikolaos, Danchin, Nicolas, Erlinge, David, Emberson, Jonathan, Glikson, Michael, Gray, Alastair, Kayikcioglu, Meral, Maggioni, Aldo, Nagy, Klaudia Vivien, Nedoshivin, Aleksandr, Petronio, Anna-Sonia, Hesselink, Jolien Roo, Wallentin, Lars, Zeymer, Uwe, Caforio, Alida, Blanes, Juan Ramon Gimeno, Charron, Philippe, Elliott, Perry, Kaski, Juan Pablo, Maggioni, Aldo P, Tavazzi, Luigi, Tendera, Michal, Komissarova, S., Chakova, N., Niyazova, S., Linhart, A., Kuchynka, P., Palecek, T., Podzimkova, J., Fikrle, M., Nemecek, E., Bundgaard, H., Tfelt-Hansen, J., Theilade, J., Thune, J J, Axelsson, A., Mogensen, J., Henriksen, F., Hey, T., Nielsen, S K, Videbaek, L., Andreasen, S., Arnsted, H., Saad, A., Ali, M., Lommi, J., Helio, T., Nieminen, M S, Dubourg, O., Mansencal, N., Arslan, M., Tsieu, V Siam, Damy, T., Guellich, A., Guendouz, S., Tissot, C M, Lamine, A., Rappeneau, S., Hagege, A., Desnos, M., Bachet, A., Hamzaoui, M., Charron, P., Isnard, R., Legrand, L., Maupain, C., Gandjbakhch, E., Kerneis, M., Pruny, J-F, Bauer, A., Pfeiffer, B., Felix, S B, Dorr, M., Kaczmarek, S., Lehnert, K., Pedersen, A-L, Beug, D., Bruder, M., Böhm, M., Kindermann, I., Linicus, Y., Werner, C., Neurath, B., Schild-Ungerbuehler, M., Seggewiss, H., Neugebauer, A., McKeown, P., Muir, A., McOsker, J., Jardine, T., Divine, G., Elliott, P., Lorenzini, M., Watkinson, O., Wicks, E., Iqbal, H., Mohiddin, S., O'Mahony, C., Sekri, N., Carr-White, G., Bueser, T., Rajani, R., Clack, L., Damm, J., Jones, S., Sanchez-Vidal, R., Smith, M., Walters, T., Wilson, K., Rosmini, S., Anastasakis, A., Ritsatos, K., Vlagkouli, V., Forster, T., Sepp, R., Borbas, J., Nagy, V., Tringer, A., Kakonyi, K., Szabo, L A, Maleki, M., Bezanjani, F Noohi, Amin, A., Naderi, N., Parsaee, M., Taghavi, S., Ghadrdoost, B., Jafari, S., Khoshavi, M., Rapezzi, C., Biagini, E., Corsini, A., Gagliardi, C., Graziosi, M., Longhi, S., Milandri, A., Ragni, L., Palmieri, S., Olivotto, I., Arretini, A., Castelli, G., Cecchi, F., Fornaro, A., Tomberli, B., Spirito, P., Devoto, E., Bella, P Della, Maccabelli, G., Sala, S., Guarracini, F., Peretto, G., Russo, M G, Calabro, R., Pacileo, G., Limongelli, G., Masarone, D., Pazzanese, V., Rea, A., Rubino, M., Tramonte, S., Valente, F., Caiazza, M., Cirillo, A., Del Giorno, G., Esposito, A., Gravino, R., Marrazzo, T., Trimarco, B., Losi, M-A, Di Nardo, C., Giamundo, A., Musella, F., Pacelli, F., Scatteia, A., Canciello, G., Caforio, A., Iliceto, S., Calore, C., Leoni, L., Marra, M Perazzolo, Rigato, I., Tarantini, G., Schiavo, A., Testolina, M., Arbustini, E., Di Toro, A., Giuliani, L P, Serio, A., Fedele, F., Frustaci, A., Alfarano, M., Chimenti, C., Drago, F., Baban, A., Calò, L., Lanzillo, C., Martino, A., Uguccioni, M., Zachara, E., Halasz, G., Re, F., Sinagra, G., Carriere, C., Merlo, M., Ramani, F., Kavoliūnienė, Aušra, Krivickienė, Aušra, Tamulevičiūtė-Prascienė, Eglė, Vieželis, Mindaugas, Balkevičienė, Laura, Laukytė, M., Palevičiūtė, Eglė, Pinto, Y., Wilde, A., Asselbergs, F W, Sammani, A., Van Der Heijden, J., Van Laake, L., De Jonge, N., Hassink, R., Kirkels, J H, Ajuluchukwu, J., Olusegun-Joseph, A., Ekure, E., Mizia-Stec, K., Tendera, M., Czekaj, A., Sikora-Puz, A., Skoczynska, A., Wybraniec, M., Rubis, P., Dziewiecka, E., Wisniowska-Smialek, S., Bilinska, Z., Chmielewski, P., Foss-Nieradko, B., Michalak, E., Stepien-Wojno, M., Mazek, B., Lopes, L Rocha, Almeida, A R, Cruz, I., Gomes, A C, Pereira, A R, Brito, D., Madeira, H., Francisco, A R, Menezes, M., Moldovan, O., Guimaraes, T Oliveira, Silva, D., Ginghina, C., Jurcut, R., Mursa, A., Popescu, B A, Apetrei, E., Militaru, S., Coman, I Mircea, Frigy, A., Fogarasi, Z., Kocsis, I., Szabo, I A, Fehervari, L., Nikitin, I., Resnik, E., Komissarova, M., Lazarev, V., Shebzukhova, M., Ustyuzhanin, D., Blagova, O., Alieva, I., Kulikova, V., Lutokhina, Y., Pavlenko, E., Varionchik, N., Ristic, A D, Seferovic, P M, Veljic, I., Zivkovic, I., Milinkovic, I., Pavlovic, A., Radovanovic, G., Simeunovic, D., Zdravkovic, M., Aleksic, M., Djokic, J., Hinic, S., Klasnja, S., Mircetic, K., Monserrat, L., Fernandez, X., Garcia-Giustiniani, D., Larrañaga, J M, Ortiz-Genga, M., Barriales-Villa, R., Martinez-Veira, C., Veira, E., Cequier, A., Salazar-Mendiguchia, J., Manito, N., Gonzalez, J., Fernández-Avilés, F., Medrano, C., Yotti, R., Cuenca, S., Espinosa, M A, Mendez, I., Zatarain, E., Alvarez, R., Pavia, P Garcia, Briceno, A., Cobo-Marcos, M., Dominguez, F., Galvan, E De Teresa, Pinilla, J M García, Abdeselam-Mohamed, N., Lopez-Garrido, M A, Hidalgo, L Morcillo, Ortega-Jimenez, M V, Mezcua, A Robles, Guijarro-Contreras, A., Gomez-Garcia, D., Robles-Mezcua, M., Blanes, J R Gimeno, Castro, F J, Esparza, C Munoz, Molina, M Sabater, García, M Sorli, Cuenca, D Lopez, de Mallorca, Palma, Ripoll-Vera, T., Alvarez, J., Nunez, J., Gomez, Y., Fernandez, P L Sanchez, Villacorta, E., Avila, C., Bravo, L., Diaz-Pelaez, E., Gallego-Delgado, M., Garcia-Cuenllas, L., Plata, B., Lopez-Haldon, J E, Pena Pena, M L, Perez, E M Cantero, Zorio, E., Arnau, M A, Sanz, J., Marques-Sule, E., Repositório da Universidade de Lisboa, Lopes, Lr, Losi, Ma, Sheikh, N, Laroche, C, Charron, P, Gimeno, J, Kaski, Jp, Maggioni, Ap, Tavazzi, L, Arbustini, E, Brito, D, Celutkiene, J, Hagege, A, Linhart, A, Mogensen, J, Garcia-Pinilla, Jm, Ripoll-Vera, T, Seggewiss, H, Villacorta, E, Caforio, A, and Elliott, Pm

Subjects
Genotype, Health Policy, Diabetes, Cardiovascular risk factors, Hypertension, Hypertrophic cardiomyopathy, Obesity, Cardiomyopathy, Hypertrophic, Ventricular Dysfunction, Left, diabete, Cardiovascular Diseases, Risk Factors, Heart Disease Risk Factors, cardiovascular risk factor, Humans, Female, 03.02. Klinikai orvostan, Cardiology and Cardiovascular Medicine, Cardiomyopathies, obesity
Abstract

© The Author(s) 2022. Published by Oxford University Press on behalf of the European Society of Cardiology. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited., Aims: The interaction between common cardiovascular risk factors (CVRF) and hypertrophic cardiomyopathy (HCM) is poorly studied. We sought to explore the relation between CVRF and the clinical characteristics of patients with HCM enrolled in the EURObservational Research Programme (EORP) Cardiomyopathy registry. Methods and results: 1739 patients with HCM were studied. The relation between hypertension (HT), diabetes (DM), body mass index (BMI) and clinical traits was analyzed. Analyses were stratified according to the presence or absence of a pathogenic variant in a sarcomere gene.The prevalence of HT, DM and obesity (Ob) was 37%, 10%, and 21%, respectively. HT, DM and Ob were associated with older age (p

Published
2022

40. Natural History of MYH7-Related Dilated Cardiomyopathy

Author

de Frutos, Fernando, primary, Ochoa, Juan Pablo, additional, Navarro-Peñalver, Marina, additional, Baas, Annette, additional, Bjerre, Jesper Vandborg, additional, Zorio, Esther, additional, Méndez, Irene, additional, Lorca, Rebeca, additional, Verdonschot, Job A.J., additional, García-Granja, Pablo Elpidio, additional, Bilinska, Zofia, additional, Fatkin, Diane, additional, Fuentes-Cañamero, M. Eugenia, additional, García-Pinilla, José M., additional, García-Álvarez, María I., additional, Girolami, Francesca, additional, Barriales-Villa, Roberto, additional, Díez-López, Carles, additional, Lopes, Luis R., additional, Wahbi, Karim, additional, García-Álvarez, Ana, additional, Rodríguez-Sánchez, Ibon, additional, Rekondo-Olaetxea, Javier, additional, Rodríguez-Palomares, José F., additional, Gallego-Delgado, María, additional, Meder, Benjamin, additional, Kubanek, Milos, additional, Hansen, Frederikke G., additional, Restrepo-Córdoba, María Alejandra, additional, Palomino-Doza, Julián, additional, Ruiz-Guerrero, Luis, additional, Sarquella-Brugada, Georgia, additional, Perez-Perez, Alberto José, additional, Bermúdez-Jiménez, Francisco José, additional, Ripoll-Vera, Tomas, additional, Rasmussen, Torsten Bloch, additional, Jansen, Mark, additional, Sabater-Molina, Maria, additional, Elliot, Perry M., additional, Garcia-Pavia, Pablo, additional, Cabrera-Romero, Eva, additional, Cobo-Marcos, Marta, additional, Escobar-Lopez, Luis, additional, Domínguez, Fernando, additional, González-López, Esther, additional, Gimeno-Blanes, Juan Ramón, additional, Dooijes, Dennis, additional, López Ledesma, Bernabé, additional, Roche Fortea, Inés, additional, Bermejo, Javier, additional, Espinosa, Maria Angeles, additional, Fernández, Ana Isabel, additional, Vilches, Silvia, additional, Gómez, Cristina, additional, Gómez, Juan, additional, Coto, Eliecer, additional, Rodríguez Reguero, José Julián, additional, Heymans, S.R.B., additional, Brunner, H.G., additional, López-Díaz, Javier, additional, Truszkowska, Grażyna, additional, Ploski, Rafal, additional, Chmielewski, Przemysław, additional, Johnson, Renee, additional, Robles-Mezcua, Ainhoa, additional, Díaz-Expósito, Arancha, additional, Pérez-Cabeza, Alejandro I., additional, Jiménez-Rubio, Clara, additional, Payá, Vicente Climent, additional, Favilli, Silvia, additional, Syrris, Petros, additional, Cannie, Douglas, additional, Billon, Clarisse, additional, Lopez-Sainz, Angela, additional, Calvo, Margarita, additional, Fernández de Bobadilla, Ángela Cacicedo, additional, Onaindia-Gandarias, Jose Juan, additional, Gaztañaga-Arantzamendi, Larraitz, additional, Zamarreño-Golvano, Estibaliz, additional, Limeres, Javier, additional, Gutiérrez-García, Laura, additional, Villacorta, Eduardo, additional, Haas, Jan, additional, Krebsova, Alice, additional, Mogensen, Jens, additional, Cesar, Sergi, additional, Campuzano, Oscar, additional, Gutiérrez, Raúl Franco, additional, Alvarez-Rubio, Jorge, additional, Cremer-Luengos, David, additional, Antoniutti, Guido, additional, Caimi-Martinez, Fiama, additional, Macías, Rosa, additional, Jiménez-Jáimez, Juan, additional, Peña-Peña, María Luisa, additional, Díez-Aja López, Salvador Lucas, additional, Acereda, Tania Pino, additional, Corada, Blanca Arnáez, additional, Piqueras-Flores, Jesús, additional, Negreira-Caamaño, Martin, additional, Río, Jorge Martinez-del, additional, Mogollón Jiménez, María Victoria, additional, Villanueva, Elena, additional, Gonzáles, José Luis, additional, Fernández, Adrián, additional, Toscanini, Ulises, additional, Favaloro, Lilian E., additional, and Díez, Carlota Hernández, additional

Published
2022
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45. Hypertensive disorders in women with peripartum cardiomyopathy: insights from the ESC EORP PPCM Registry

Author

Jackson, Alice M., Petrie, Mark C., Frogoudaki, Alexandra, Laroche, Cécile, Gustafsson, Finn, Ibrahim, Bassem, Mebazaa, Alexandre, Johnson, Mark R., Seferovic, Petar M., Regitz‐Zagrosek, Vera, Mbakwem, Amam, Böhm, Michael, Prameswari, Hawani Sasmaya, Abdel Gawad, Doaa Ahmed Fouad, Goland, Sorel, Damasceno, Albertino, Karaye, Kamilu, Farhan, Hasan Ali, Hamdan, Righab, Maggioni, Aldo P., Sliwa, Karen, Bauersachs, Johann, Meer, Peter, Favaloro, R., Favaloro, L., Carballo, M., Peradejordi, M., Renedo, M.F., Absi, D., Bertolotti, A., Ratto, R., Talavera, M.L., Gomez, R., Lockwood, S., Barton, T., Austin, M‐A., Arstall, M., Aldridge, E., Chow, Y.Y., Dekker, G., Mahadavan, G., Rose, J., Wittwer, M., Hoppe, U., Sandhofer, A., Bahshaliyev, A., Gasimov, Z., Babayev, A., Niftiyev, P., Hasanova, I., AlBannay, R., AlHaiki, W., Husain, A., Mahdi, N., Kurlianskaya, A., Lukyanchyk, M., Shatova, O., Troyanova‐Shchutskaia, T., Anghel, L., De Pauw, M., Gevaert, S., De Backer, J., De Hosson, M., Vervaet, P., Timmermans, P.J., Janssen, A., Yameogo, N.V., Kagambega, L.J., Cumyn, A., Caron, N., Cote, A‐M., Sauve, N., Nkulu, D. Ngoy, Lez, D. Malamba, Yolola, E. Ngoy, Krejci, J., Poloczkova, H., Ersboll, A., Gustafsson, F., Elrakshy, Y., Hassanein, M., Hammad, B., Eldin, O. Nour, Fouad, D., Salman, S., Zareh, Z., Abdeall, D., Elenin, H. Abo, Ebaid, H., El Nagar, A., Farag, S., Saed, M., El Rahman, Y H Abd, Ibrahim, B.S., Abdelhamid, M., Hanna, R.N. W., Youssef, G., Awad, R., Botrous, O.L. I., Halawa, S. Ibrahim, Nasr, G., Saad, A., El Tahlawi, M., Abdelbaset, M., El‐saadawy, M., El‐shorbagy, A., Shalaby, G., Anttonen, O., Tolppanen, H., Hamekoski, S., Menez, T., Noel, A., Lamblin, N., Mouquet, F., Coulon, C., Groote, P., Langlois, S., Schurtz, G., Cohen‐Solal, A., Mebazaa, A., Fournier, M‐C., Louadah, B., Akrout, N., Logeart, D., Leurent, G., Jovanova, S., Arnaudova‐Dezulovicj, F., Livrinova, V., Bauersachs, J., Hilfiker‐Kleiner, D., Berliner, D., Jungesblut, M., Koenig, T., Moulig, V.A., Pfeffer, T.J., Böhm, M., Kindermann, I., Schwarz, V., Schmitt, C., Swojanowsky, P., Pettit, S., Petrie, M., McAdam, M., Patton, D., Bakhai, A., Krishnamurthy, V., Lim, L., Clifford, P., Bowers, N., Clark, A. L., Witte, K., Cullington, D., Oliver, J., Simms, A., Mcginlay, M., McDonagh, T., Shah, A. 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Abstract

Aims: \ud Hypertensive disorders occur in women with peripartum cardiomyopathy (PPCM). How often hypertensive disorders co-exist, and to what extent they impact outcomes, is less clear. We describe differences in phenotype and outcomes in women with PPCM with and without hypertensive disorders during pregnancy.\ud \ud Methods: \ud The European Society of Cardiology PPCM Registry enrolled women with PPCM from 2012-2018. Three groups were examined: 1) women without hypertension (‘PPCM-noHTN’); 2) women with hypertension but without pre-eclampsia (‘PPCM-HTN’); 3) women with pre-eclampsia (‘PPCM-PE’). Maternal (6-month) and neonatal outcomes were compared.\ud \ud Results: \ud Of 735 women included, 452 (61.5%) had PPCM-noHTN, 99 (13.5%) had PPCM-HTN and 184 (25.0%) had PPCM-PE. Compared to women with PPCM-noHTN, women with PPCM-PE had more severe symptoms (NYHA IV in 44.4% and 29.9%, p

Published
2021

48. 494/34. ESTUDIO DE LAS CAUSAS QUE MOTIVARON LA FALTA DE PRESCRIPCIÓN DE INHIBIDORES DEL RECEPTOR DE ANGIOTENISINA-NEPRILISINA EN PACIENTES CON INSUFICIENCIA CARDIACA Y FRACCIÓN DE EYECCIÓN DEL VENTRÍCULO IZQUIERDO DEPRIMIDA

Author

José David Martínez Carmona, Concepción Cruzado Álvarez, Alejandro Isidoro Pérez Cabeza, Ainhoa Robles Mezcua, Arancha Díaz Expósito, Manuel Luna Morales, Luis Morcillo Hidalgo, Clara Jiménez Rubio, Juan José Gómez Doblas, and José Manuel García Pinilla

Subjects
Cardiology and Cardiovascular Medicine
Published
2023
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