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1. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the State of Genetic Testing for Cardiac Diseases

Author

Wilde, Arthur A.M., Semsarian, Christopher, Márquez, Manlio F., Sepehri Shamloo, Alireza, Ackerman, Michael J., Ashley, Euan A., Sternick, Eduardo Back, Barajas-Martinez, Héctor, Behr, Elijah R., Bezzina, Connie R., Breckpot, Jeroen, Charron, Philippe, Chockalingam, Priya, Crotti, Lia, Gollob, Michael H., Lubitz, Steven, Makita, Naomasa, Ohno, Seiko, Ortiz-Genga, Martín, Sacilotto, Luciana, Schulze-Bahr, Eric, Shimizu, Wataru, Sotoodehnia, Nona, Tadros, Rafik, Ware, James S., Winlaw, David S., Kaufman, Elizabeth S., Aiba, Takeshi, Bollmann, Andreas, Choi, Jong-Il, Dalal, Aarti, Darrieux, Francisco, Giudicessi, John, Guerchicoff, Mariana, Hong, Kui, Krahn, Andrew D., MacIntyre, Ciorsti, Mackall, Judith A., Mont, Lluís, Napolitano, Carlo, Ochoa, Juan Pablo, Peichl, Petr, Pereira, Alexandre C., Schwartz, Peter J., Skinner, Jon, Stellbrink, Christoph, Tfelt-Hansen, Jacob, and Deneke, Thomas

Published
2022
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2. 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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3. The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals

Author

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

Published
2020
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4. Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy

Author

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

Published
2018
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6. Atlas of the clinical genetics of human dilated cardiomyopathy

Author

Haas, Jan, Frese, Karen S., Peil, Barbara, Kloos, Wanda, Keller, Andreas, Nietsch, Rouven, Feng, Zhu, Müller, Sabine, Kayvanpour, Elham, Vogel, Britta, Sedaghat-Hamedani, Farbod, Lim, Wei-Keat, Zhao, Xiaohong, Fradkin, Dmitriy, Köhler, Doreen, Fischer, Simon, Franke, Jennifer, Marquart, Sabine, Barb, Ioana, Li, Daniel Tian, Amr, Ali, Ehlermann, Philipp, Mereles, Derliz, Weis, Tanja, Hassel, Sarah, Kremer, Andreas, King, Vanessa, Wirsz, Emil, Isnard, Richard, Komajda, Michel, Serio, Alessandra, Grasso, Maurizia, Syrris, Petros, Wicks, Eleanor, Plagnol, Vincent, Lopes, Luis, Gadgaard, Tenna, Eiskjær, Hans, Jørgensen, Mads, Garcia-Giustiniani, Diego, Ortiz-Genga, Martin, Crespo-Leiro, Maria G., Deprez, Rondal H. Lekanne Dit, Christiaans, Imke, van Rijsingen, Ingrid A., Wilde, Arthur A., Waldenstrom, Anders, Bolognesi, Martino, Bellazzi, Riccardo, Mörner, Stellan, Bermejo, Justo Lorenzo, Monserrat, Lorenzo, Villard, Eric, Mogensen, Jens, Pinto, Yigal M., Charron, Philippe, Elliott, Perry, Arbustini, Eloisa, Katus, Hugo A., and Meder, Benjamin

Published
2015
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7. Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy

Author

Lopes, Luis R, primary, Garcia-Hernández, Soledad, additional, Lorenzini, Massimiliano, additional, Futema, Marta, additional, Chumakova, Olga, additional, Zateyshchikov, Dmitry, additional, Isidoro-Garcia, Maria, additional, Villacorta, Eduardo, additional, Escobar-Lopez, Luis, additional, Garcia-Pavia, Pablo, additional, Bilbao, Raquel, additional, Dobarro, David, additional, Sandin-Fuentes, Maria, additional, Catalli, Claudio, additional, Gener Querol, Blanca, additional, Mezcua, Ainhoa, additional, Garcia Pinilla, Jose, additional, Bloch Rasmussen, Torsten, additional, Ferreira-Aguar, Ana, additional, Revilla-Martí, Pablo, additional, Basurte Elorz, Maria Teresa, additional, Bautista Paves, Alicia, additional, Ramon Gimeno, Juan, additional, Figueroa, Ana Virginia, additional, Franco-Gutierrez, Raul, additional, Fuentes-Cañamero, Maria Eugenia, additional, Martinez Moreno, Marina, additional, Ortiz-Genga, Martin, additional, Piqueras-Flores, Jesus, additional, Analia Ramos, Karina, additional, Rudzitis, Ainars, additional, Ruiz-Guerrero, Luis, additional, Stein, Ricardo, additional, Triguero-Bocharán, Mayte, additional, de la Higuera, Luis, additional, Ochoa, Juan Pablo, additional, Abu-Bonsrah, Dad, additional, Kwok, Cecilia Y T, additional, Smith, Jacob B, additional, Porrello, Enzo R, additional, Akhtar, Mohammed M, additional, Jager, Joanna, additional, Ashworth, Michael, additional, Syrris, Petros, additional, Elliott, David A, additional, Monserrat, Lorenzo, additional, and Elliott, Perry M, additional

Published
2021
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8. Clinical utility of genetic testing in patients with dilated cardiomyopathy

Author

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

Published
2021
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9. Prognostic implications of pathogenic truncating variants in the TTN gene

Author

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

Published
2020
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10. Reduction in Filamin C transcript is associated with arrhythmogenic cardiomyopathy in Ashkenazi Jews

Author

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

Published
2020
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11. Utilidad clínica del estudio genético en pacientes con miocardiopatía dilatada

Author

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

Published
2020
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12. Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure.

Author

Akhtar, Mohammed Majid, Lorenzini, Massimiliano, Pavlou, Menelaos, Ochoa, Juan Pablo, O'Mahony, Constantinos, Restrepo-Cordoba, Maria Alejandra, Segura-Rodriguez, Diego, Bermúdez-Jiménez, Francisco, Molina, Pilar, Cuenca, Sofia, Ader, Flavie, Larrañaga-Moreira, Jose M., Sabater-Molina, Maria, Garcia-Alvarez, Maria I., Arantzamendi, Larraitz Gaztañaga, Truszkowska, Grazyna, Ortiz-Genga, Martin, Ruiz, Itziar Solla, Nielsen, Søren Kristian, and Rasmussen, Torsten Bloch

Published
2021
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14. Utilidad clínica del estudio genético en pacientes con miocardiopatía dilatada

Author

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

Abstract

La miocardiopatía dilatada (MCD) es la causa más frecuente de trasplante cardiaco. Se considera que es familiar hasta en el 50% de los casos. Nuestro objetivo es describir los resultados genéticos obtenidos en una cohorte de pacientes con MCD, de los cuales una elevada proporción había acabado en trasplante cardiaco.

Published
2021
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15. Inverted U-Shaped Relation Between the Risk of Sudden Cardiac Death and Maximal Left Ventricular Wall Thickness in Hypertrophic Cardiomyopathy

Author

O’Mahony, Constantinos, primary, Jichi, Fatima, additional, Monserrat, Lorenzo, additional, Ortiz-Genga, Martin, additional, Anastasakis, Aristides, additional, Rapezzi, Claudio, additional, Biagini, Elena, additional, Gimeno, Juan Ramon, additional, Limongelli, Giuseppe, additional, McKenna, William J., additional, Omar, Rumana Z., additional, and Elliott, Perry M., additional

Published
2016
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17. Atlas of the clinical genetics of human dilated cardiomyopathy

Author

Haas, Jan, primary, Frese, Karen S., additional, Peil, Barbara, additional, Kloos, Wanda, additional, Keller, Andreas, additional, Nietsch, Rouven, additional, Feng, Zhu, additional, Müller, Sabine, additional, Kayvanpour, Elham, additional, Vogel, Britta, additional, Sedaghat-Hamedani, Farbod, additional, Lim, Wei-Keat, additional, Zhao, Xiaohong, additional, Fradkin, Dmitriy, additional, Köhler, Doreen, additional, Fischer, Simon, additional, Franke, Jennifer, additional, Marquart, Sabine, additional, Barb, Ioana, additional, Li, Daniel Tian, additional, Amr, Ali, additional, Ehlermann, Philipp, additional, Mereles, Derliz, additional, Weis, Tanja, additional, Hassel, Sarah, additional, Kremer, Andreas, additional, King, Vanessa, additional, Wirsz, Emil, additional, Isnard, Richard, additional, Komajda, Michel, additional, Serio, Alessandra, additional, Grasso, Maurizia, additional, Syrris, Petros, additional, Wicks, Eleanor, additional, Plagnol, Vincent, additional, Lopes, Luis, additional, Gadgaard, Tenna, additional, Eiskjær, Hans, additional, Jørgensen, Mads, additional, Garcia-Giustiniani, Diego, additional, Ortiz-Genga, Martin, additional, Crespo-Leiro, Maria G., additional, Deprez, Rondal H. Lekanne Dit, additional, Christiaans, Imke, additional, van Rijsingen, Ingrid A., additional, Wilde, Arthur A., additional, Waldenstrom, Anders, additional, Bolognesi, Martino, additional, Bellazzi, Riccardo, additional, Mörner, Stellan, additional, Bermejo, Justo Lorenzo, additional, Monserrat, Lorenzo, additional, Villard, Eric, additional, Mogensen, Jens, additional, Pinto, Yigal M., additional, Charron, Philippe, additional, Elliott, Perry, additional, Arbustini, Eloisa, additional, Katus, Hugo A., additional, and Meder, Benjamin, additional

Published
2014
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20. Inverted U-Shaped Relation Between the Risk of Sudden Cardiac Death and Maximal Left Ventricular Wall Thickness in Hypertrophic Cardiomyopathy.

Author

O'Mahony, Constantinos, Jichi, Fatima, Monserrat, Lorenzo, Ortiz-Genga, Martin, Anastasakis, Aristides, Rapezzi, Claudio, Biagini, Elena, Gimeno, Juan Ramon, Limongelli, Giuseppe, McKenna, William J., Omar, Rumana Z., Elliott, Perry M., and Hypertrophic Cardiomyopathy Outcomes Investigators*

Subjects
CARDIAC arrest prevention, CARDIAC arrest, COMPARATIVE studies, CARDIAC hypertrophy, IMPLANTABLE cardioverter-defibrillators, LONGITUDINAL method, RESEARCH methodology, MEDICAL cooperation, RESEARCH, EVALUATION research, RETROSPECTIVE studies, LEFT ventricular hypertrophy, DISEASE complications
Abstract

Background: Hypertrophic cardiomyopathy is associated with sudden cardiac death (SCD). Some studies have shown an association between risk of sudden death and left ventricular maximal wall thickness (MWT), but there are few data in patients with extreme hypertrophy. The aim of this study was to determine the relation between MWT and the risk of SCD.Methods and Results: This is a multicenter, retrospective, longitudinal cohort study of 3673 adult (≥16 years) patients, previously used to develop and validate a risk prediction model for SCD (HCM Risk-SCD [hypertrophic cardiomyopathy risk-SCD]). There was an inverted U-shaped relation between MWT and the estimated 5-year risk of SCD. In patients with MWT≥35 mm (n=47; mean age, 33 years; 81% men), there was a single SCD end point (annual rate, 0.2%; 95% confidence interval, 0.03-1.60) and 3 additional cardiovascular events during a median follow-up of 9.5 years. Compared with patients with MWT≤14 mm, those with MWT≥35 mm did not have a higher risk for SCD (hazard ratio, 0.22; 95% confidence interval, 0.03-1.65), cardiovascular death (hazard ratio, 0.66; 95% confidence interval, 0.26-1.67), or all-cause mortality (hazard ratio, 0.73; 95% confidence interval, 0.32-1.69).Conclusions: The risk of SCD has a complex, nonlinear relationship to MWT. The pathophysiological mechanisms behind this observation require further study but implantable cardioverter defibrillator implantation should not be guided solely on the severity of left ventricular hypertrophy. [ABSTRACT FROM AUTHOR]

Published
2016
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21. Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain

Author

García-Giustiniani, Diego, Arad, Michael, Ortíz-Genga, Martín, Barriales-Villa, Roberto, Fernández, Xusto, Rodríguez-García, Isabel, Mazzanti, Andrea, Veira, Elena, Maneiro, Emilia, Rebolo, Paula, Lesende, Iván, Cazón, Laura, Freimark, Dov, Gimeno-Blanes, Juan Ramón, Seidman, Christine, Seidman, Jonathan, McKenna, William, and Monserrat, Lorenzo

Abstract

Objectives: The prognostic value of genetic studies in cardiomyopathies is still controversial. Our objective was to evaluate the outcome of patients with cardiomyopathy with mutations in the converter domain of β myosin heavy chain (MYH7). Methods: Clinical characteristics and survival of 117 affected members with mutations in the converter domain of MYH7 were compared with 409 patients described in the literature with mutations in the same region. Results: Twenty-five mutations were evaluated (9 in our families including 3 novel (Ile730Asn, Asp717Gly and Arg719Pro)). Clinical diagnoses were hypertrophic (n=407), dilated (n=15), non-compaction (n=4) and restrictive (n=5) cardiomyopathies, unspecified cardiomyopathy (n=11), sudden death (n=50) and 35 healthy carriers. One hundred eighty-four had events (cardiovascular death or transplant). Median event-free survival was 50±2 years in our patients and 53±3 years in the literature (p=0.27). There were significant differences in the outcome between mutation: Ile736Thr had fewer events than other mutations in the region (p=0.01), while Arg719Gln (p<0.01) had reduced event-free survival. Conclusions: Mutations in the converter region are generally associated with adverse prognosis although there are differences between mutations. The identification of a mutation in this particular region provides important prognostic information that should be considered in the clinical management of affected patients.

Published
2015
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22. Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies

Author

Eyal Nof, Sofía Cuenca, Juan Pablo Trujillo, Juan Ramón Gimeno-Blanes, Laura Padron-Barthe, Iria Duro-Aguado, Lorenzo Monserrat, Fernando Dominguez, Esther Zorio, Diego García-Giustiniani, Jorge Rodriguez-Garrido, Martin Ortiz-Genga, Vicente Climent, Matteo Dal Ferro, Michael Arad, Marco Merlo, Davide Stolfo, Pablo García-Pavía, Ricardo Salgado-Aranda, Víctor M. Hidalgo-Olivares, Sonia Marcos-Alonso, Enrique Lara-Pezzi, Juan Jiménez-Jáimez, Leonardo Calò, M. Paz Suárez-Mier, Pilar Molina, Hagith Yonath, Roberto Barriales-Villa, Maria Luisa Peña, Chiara Lanzillo, José L. Santomé, Juan Pablo Ochoa, Enrique García-Campo, Francisco E. Calvo-Iglesias, Alicia Martín-Vila, Julián Palomino, Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF), Ortiz-Genga, Mf, Cuenca, S, Dal Ferro, M, Zorio, E, Salgado-Aranda, R, Climent, V, Padrón-Barthe, L, Duro-Aguado, I, Jiménez-Jáimez, 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, Gimeno-Blanes, Jr, Arad, M, García-Pavía, P, Monserrat, L, [Ortiz-Genga, Martin F.] Inst Invest Biomed INIBIC, La Coruna, Spain, [Barriales-Villa, Roberto] Inst Invest Biomed INIBIC, La Coruna, Spain, [Monserrat, Lorenzo] Inst Invest Biomed INIBIC, La Coruna, Spain, [Ortiz-Genga, Martin F.] Hlth Code SL, La Coruna, Spain, [Ochoa, Juan P.] Hlth Code SL, La Coruna, Spain, [Santome, Jose L.] Hlth Code SL, La Coruna, Spain, [Garcia-Giustiniani, Diego] Hlth Code SL, La Coruna, Spain, [Rodriguez-Garrido, Jorge L.] Hlth Code SL, La Coruna, Spain, [Trujillo, Juan P.] Hlth Code SL, La Coruna, Spain, [Monserrat, Lorenzo] Hlth Code SL, La Coruna, Spain, [Cuenca, Sofia] Hosp Univ Puerta de Hierro Majadahonda, Dept Cardiol, Heart Failure & Inherited Cardiac Dis Unit, Madrid, Spain, [Dominguez, Fernando] Hosp Univ Puerta de Hierro Majadahonda, Dept Cardiol, Heart Failure & Inherited Cardiac Dis Unit, Madrid, Spain, [Garcia-Pavia, Pablo] Hosp Univ Puerta de Hierro Majadahonda, Dept Cardiol, Heart Failure & Inherited Cardiac Dis Unit, Madrid, Spain, [Dal Ferro, Matteo] Azienda Osped Univ Osped Riuniti, Cardiovasc Dept, Trieste, Italy, [Merlo, Marco] Azienda Osped Univ Osped Riuniti, Cardiovasc Dept, Trieste, Italy, [Stolfo, Davide] Azienda Osped Univ Osped Riuniti, Cardiovasc Dept, Trieste, Italy, [Zorio, Esther] Hosp Univ & Politecn La Fe, Valencia, Spain, [Salgado-Aranda, Ricardo] Hosp Univ Burgos, Burgos, Spain, [Climent, Vicente] Hosp Gen Univ Alicante, Alicante, Spain, [Padron-Barthe, Laura] Ctr Nacl Invest Cardiovasc, Myocardial Pathophysiol Area, Madrid, Spain, [Lara-Pezzi, Enrique] Ctr Nacl Invest Cardiovasc, Myocardial Pathophysiol Area, Madrid, Spain, [Duro-Aguado, Iria] Hosp Clin Univ Valladolid, Valladolid, Spain, [Jimenez-Jaimez, Juan] Hosp Univ Virgen de las Nieves, Granada, Spain, [Hidalgo-Olivares, Victor M.] Complejo Hosp Univ Albacete, Albacete, Spain, [Garcia-Campo, Enrique] Complexo Hosp Univ Vigo, Vigo, Spain, [Palomino, Julian] Complexo Hosp Univ Vigo, Vigo, Spain, [Martin-Vila, Alicia] Complexo Hosp Univ Vigo, Vigo, Spain, [Calvo-Iglesias, Francisco E.] Complexo Hosp Univ Vigo, Vigo, Spain, [Lanzillo, Chiara] ASL Roma B, Policlin Casilino, Rome, Italy, [Calo, Leonardo] ASL Roma B, Policlin Casilino, Rome, Italy, [Suarez-Mier, M. Paz] Inst Nacl Toxicol & Ciencias Forenses, Madrid, Spain, [Yonath, Hagith] Tel Aviv Univ, Sheba Med Ctr, IL-69978 Tel Aviv, Israel, [Nof, Eyal] Tel Aviv Univ, Sheba Med Ctr, IL-69978 Tel Aviv, Israel, [Arad, Michael] Tel Aviv Univ, Sheba Med Ctr, IL-69978 Tel Aviv, Israel, [Yonath, Hagith] Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel, [Nof, Eyal] Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel, [Arad, Michael] Tel Aviv Univ, Sackler Sch Med, IL-69978 Tel Aviv, Israel, [Marcos-Alonso, Sonia] Univ A Coruna, Serv Galego Saude SERGAS, Complexo Hospo Univ A Coruna, La Coruna, Spain, [Rodriguez-Garrido, Jorge L.] Univ A Coruna, Serv Galego Saude SERGAS, Complexo Hospo Univ A Coruna, La Coruna, Spain, [Barriales-Villa, Roberto] Univ A Coruna, Serv Galego Saude SERGAS, Complexo Hospo Univ A Coruna, La Coruna, Spain, [Pena, Maria L.] Hosp Univ Virgen del Rocio, Seville, Spain, [Molina, Pilar] Inst Med Legal, Serv Patol, Valencia, Spain, [Lara-Pezzi, Enrique] Imperial Coll London, Natl Heart & Lung Inst, London, England, [Gimeno-Blanes, Juan R.] Hosp Univ Virgen de la Arrixaca, Murcia, Spain, [Garcia-Pavia, Pablo] Francisco de Vitoria Univ, Madrid, Spain, Spanish Ministry of Economy and Competitiveness, Plan Nacional de I+D+I, Plan Estatalde I+D+I, European Regional Development Fund, and Health in Code SL

Subjects
0301 basic medicine, Proband, Male, Myopathy, genotype, DNA Mutational Analysis, Arrhythmogenic cardiomyopathy, Dilated cardiomyopathy, Filamin, Actin-binding protein, Sudden cardiac death, Risk Factors, FLNC, filaminopathy, Child, Hypertrophic cardiomyopathy, ventricular arrhythmia, Middle Aged, Penetrance, Immunohistochemistry, Child, Preschool, Cardiology, Muscle, Female, Cardiology and Cardiovascular Medicine, Cardiomyopathies, prognosi, Adult, medicine.medical_specialty, Adolescent, Filamins, sudden death, Sudden death, 03 medical and health sciences, Young Adult, Filamin c cause, Internal medicine, medicine, Humans, Domain, Aged, Retrospective Studies, business.industry, Infant, DNA, medicine.disease, 030104 developmental biology, Mutation, Tachycardia, Ventricular, prognosis, business, Isoforms, filamin C
Abstract

BACKGROUND: Filamin C (encoded by the FLNC gene) is essential for sarcomere attachment to the plasmatic membrane. FLNC mutations have been associated with myofibrillar myopathies, and cardiac involvement has been reported in some carriers. Accordingly, since 2012, the authors have included FLNC in the genetic screening of patients with inherited cardiomyopathies and sudden death. OBJECTIVES: The aim of this study was to demonstrate the association between truncating mutations in FLNC and the development of high-risk dilated and arrhythmogenic cardiomyopathies. METHODS: FLNC was studied using next-generation sequencing in 2,877 patients with inherited cardiovascular diseases. A characteristic phenotype was identified in probands with truncating mutations in FLNC. Clinical and genetic evaluation of 28 affected families was performed. Localization of filamin C in cardiac tissue was analyzed in patients with truncating FLNC mutations using immunohistochemistry. RESULTS: Twenty-three truncating mutations were identified in 28 probands previously diagnosed with dilated, arrhythmogenic, or restrictive cardiomyopathies. Truncating FLNC mutations were absent in patients with other phenotypes, including 1,078 patients with hypertrophic cardiomyopathy. Fifty-four mutation carriers were identified among 121 screened relatives. The phenotype consisted of left ventricular dilation (68%), systolic dysfunction (46%), and myocardial fibrosis (67%); inferolateral negative T waves and low QRS voltages on electrocardiography (33%); ventricular arrhythmias (82%); and frequent sudden cardiac death (40 cases in 21 of 28 families). Clinical skeletal myopathy was not observed. Penetrance was >97% in carriers older than 40 years. Truncating mutations in FLNC cosegregated with this phenotype with a dominant inheritance pattern (combined logarithm of the odds score: 9.5). Immunohistochemical staining of myocardial tissue showed no abnormal filamin C aggregates in patients with truncating FLNC mutations. CONCLUSIONS: Truncating mutations in FLNC caused an overlapping phenotype of dilated and left-dominant arrhythmogenic cardiomyopathies complicated by frequent premature sudden death. Prompt implantation of a cardiac defibrillator should be considered in affected patients harboring truncating mutations in FLNC. Instituto de Salud Carlos III [PI11/0699, PI14/0967, PI14/01477, RD012/0042/0029, RD012/0042/0049, RD012/0042/0066, RD12/0042/0069]; Spanish Ministry of Economy and Competitiveness [SAF2015-71863-REDT]; Plan Nacional de I+D+I; Plan Estatalde I+D+I, European Regional Development Fund; Health in Code SL Sí

Published
2016

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

Author

Giuseppe Limongelli, Lorenzo Monserrat, Rumana Z Omar, Constantinos O'Mahony, Aristides Anastasakis, Fatima Jichi, Martin Ortiz-Genga, Claudio Rapezzi, Perry M. Elliott, William J. McKenna, Juan R. Gimeno, Elena Biagini, O'Mahony, Constantino, Jichi, Fatima, Monserrat, Lorenzo, Ortiz-Genga, Martin, Anastasakis, Aristide, Rapezzi, Claudio, Biagini, Elena, Gimeno, Juan Ramon, Limongelli, Giuseppe, Mckenna, William J., Omar, Rumana Z., and Elliott, Perry M.

Subjects
Adult, Male, medicine.medical_specialty, implantable, medicine.medical_treatment, Cardiomyopathy, follow-up studie, hypertrophic, 030204 cardiovascular system & hematology, Left ventricular hypertrophy, Sudden death, Sudden cardiac death, NO, 03 medical and health sciences, defibrillator, 0302 clinical medicine, Internal medicine, death, Physiology (medical), defibrillators, Medicine, Humans, 030212 general & internal medicine, Longitudinal Studies, cardiomyopathy, follow-up studies, hypertrophy, left ventricular, sudden, Cardiology and Cardiovascular Medicine, Retrospective Studies, business.industry, Hazard ratio, Hypertrophic cardiomyopathy, Cardiomyopathy, Hypertrophic, medicine.disease, Implantable cardioverter-defibrillator, Confidence interval, Defibrillators, Implantable, Europe, Death, Sudden, Cardiac, Cardiology, Female, Hypertrophy, Left Ventricular, business, human activities
Abstract

Background— Hypertrophic cardiomyopathy is associated with sudden cardiac death (SCD). Some studies have shown an association between risk of sudden death and left ventricular maximal wall thickness (MWT), but there are few data in patients with extreme hypertrophy. The aim of this study was to determine the relation between MWT and the risk of SCD. Methods and Results— This is a multicenter, retrospective, longitudinal cohort study of 3673 adult (≥16 years) patients, previously used to develop and validate a risk prediction model for SCD (HCM Risk-SCD [hypertrophic cardiomyopathy risk-SCD]). There was an inverted U-shaped relation between MWT and the estimated 5-year risk of SCD. In patients with MWT≥35 mm (n=47; mean age, 33 years; 81% men), there was a single SCD end point (annual rate, 0.2%; 95% confidence interval, 0.03–1.60) and 3 additional cardiovascular events during a median follow-up of 9.5 years. Compared with patients with MWT≤14 mm, those with MWT≥35 mm did not have a higher risk for SCD (hazard ratio, 0.22; 95% confidence interval, 0.03–1.65), cardiovascular death (hazard ratio, 0.66; 95% confidence interval, 0.26–1.67), or all-cause mortality (hazard ratio, 0.73; 95% confidence interval, 0.32–1.69). Conclusions— The risk of SCD has a complex, nonlinear relationship to MWT. The pathophysiological mechanisms behind this observation require further study but implantable cardioverter defibrillator implantation should not be guided solely on the severity of left ventricular hypertrophy.

Published
2016

24. Genetics of cardiomyopathies: novel perspectives with next generation sequencing.

Author

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

Subjects
Humans, Cardiomyopathies genetics, Genetic Testing, Sequence Analysis, DNA economics, Sequence Analysis, DNA trends
Abstract

Cardiomyopathies are a heterogeneous group of primary diseases of the myocardium usually of genetic origin and with familial presentation. The identification of multiple genetic causes for these diseases has opened a new window for early diagnosis, understanding of their natural history and improvement in risk stratification and management. However, in the past years, the clinical application of genetics has been limited by the prohibiting cost and restricted yield of the available genotyping technologies. The emergence of Next Generation Sequencing (NGS) has completely changed this scenario. This group of sequencing technologies allow the evaluation of hundreds or even thousands of genes in parallel at an affordable cost. Now the challenge is not genotyping per se but the interpretation of the complex results that NGS generates. In this paper we review the main aspects related to the application and impact of Next Generation Sequencing in the study of cardiomyopathies: technology, analysis procedures, bioinformatics, clinical validation and interpretation of results.

Published
2015
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