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4. Analysis of the financial implications of solar panels and battery storage integration in the port infrastructure of Heraklion

Author

Iliev, T, Stoyanov, I, Mihaylov, G, Kogias, P, Fantidis, J, Karapidakis, E, Paspatis, A, Grammatikakis, I, Nikologiannis, M, Seimenis, M, Papadakis, M, Iliev, T, Stoyanov, I, Mihaylov, G, Kogias, P, Fantidis, J, Karapidakis, E, Paspatis, A, Grammatikakis, I, Nikologiannis, M, Seimenis, M, and Papadakis, M

Abstract

The European Union (EU) aims to significantly reduce greenhouse gas (GHG) emissions by 2050, necessitating an extensive energy transition across numerous industries and economic sectors. Urban ports are a key sector affected by this transition. As ports increasingly adopt electric-powered infrastructure (such as cold ironing, reefers, stackers, and cranes), their reliance on the electrical grid grows, potentially leading to higher operational costs. This creates a challenge of achieving the required transition in a cost-effective manner. This paper addresses this issue by proposing a photovoltaic (PV) and battery installation to meet electricity demands, focusing on determining the optimal system size, cost, and expected earnings. The study utilizes electricity consumption data from the port of Heraklion for 2021 and solar data from a nearby photovoltaic park in Heraklion, Crete. The methodology's results include determining the appropriate PV capacity and battery storage, with an estimated annual profit of €165,818.44.

Published
2024

5. Prevalence and Clinical Significance of Electrocardiographic Complete Right Bundle Branch Block in Young Individuals

Author

MacLachlan, H, primary, Antonakaki, A, additional, Bhatia, R, additional, Fyazz, S, additional, Chatrath, N, additional, Androulakis, E, additional, Marawaha, S, additional, Basu, J, additional, Miles, C, additional, Dhutia, H, additional, Zaidi, A, additional, Chandra, N, additional, Sheikh, N, additional, Gati, S, additional, Malhotra, A, additional, Finocchiaro, G, additional, Sharma, S, additional, and Papadakis, M, additional

Published
2024
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7. The Lancet Commission to reduce the global burden of sudden cardiac death: a call for multidisciplinary action

Author

Marijon, E, Narayanan, K, Smith, K, Barra, S, Basso, C, Blom, M, Crotti, L, D'Avila, A, Deo, R, Dumas, F, Dzudie, A, Farrugia, A, Greeley, K, Hindricks, G, Hua, W, Ingles, J, Iwami, T, Junttila, J, Koster, R, Le Polain De Waroux, J, Olasveengen, T, Ong, M, Papadakis, M, Sasson, C, Shin, S, Tse, H, Tseng, Z, Van Der Werf, C, Folke, F, Albert, C, Winkel, B, Marijon E., Narayanan K., Smith K., Barra S., Basso C., Blom M. T., Crotti L., D'Avila A., Deo R., Dumas F., Dzudie A., Farrugia A., Greeley K., Hindricks G., Hua W., Ingles J., Iwami T., Junttila J., Koster R. W., Le Polain De Waroux J. -B., Olasveengen T. M., Ong M. E. H., Papadakis M., Sasson C., Shin S. D., Tse H. -F., Tseng Z., Van Der Werf C., Folke F., Albert C. M., Winkel B. G., Marijon, E, Narayanan, K, Smith, K, Barra, S, Basso, C, Blom, M, Crotti, L, D'Avila, A, Deo, R, Dumas, F, Dzudie, A, Farrugia, A, Greeley, K, Hindricks, G, Hua, W, Ingles, J, Iwami, T, Junttila, J, Koster, R, Le Polain De Waroux, J, Olasveengen, T, Ong, M, Papadakis, M, Sasson, C, Shin, S, Tse, H, Tseng, Z, Van Der Werf, C, Folke, F, Albert, C, Winkel, B, Marijon E., Narayanan K., Smith K., Barra S., Basso C., Blom M. T., Crotti L., D'Avila A., Deo R., Dumas F., Dzudie A., Farrugia A., Greeley K., Hindricks G., Hua W., Ingles J., Iwami T., Junttila J., Koster R. W., Le Polain De Waroux J. -B., Olasveengen T. M., Ong M. E. H., Papadakis M., Sasson C., Shin S. D., Tse H. -F., Tseng Z., Van Der Werf C., Folke F., Albert C. M., and Winkel B. G.

Abstract

Despite major advancements in cardiovascular medicine, sudden cardiac death (SCD) continues to be an enormous medical and societal challenge, claiming millions of lives every year. Efforts to prevent SCD are hampered by imperfect risk prediction and inadequate solutions to specifically address arrhythmogenesis. Although resuscitation strategies have witnessed substantial evolution, there is a need to strengthen the organisation of community interventions and emergency medical systems across varied locations and health-care structures. With all the technological and medical advances of the 21st century, the fact that survival from sudden cardiac arrest (SCA) remains lower than 10% in most parts of the world is unacceptable. Recognising this urgent need, the Lancet Commission on SCD was constituted, bringing together 30 international experts in varied disciplines. Consistent progress in tackling SCD will require a completely revamped approach to SCD prevention, with wide-sweeping policy changes that will empower the development of both governmental and community-based programmes to maximise survival from SCA, and to comprehensively attend to survivors and decedents’ families after the event. International collaborative efforts that maximally leverage and connect the expertise of various research organisations will need to be prioritised to properly address identified gaps. The Commission places substantial emphasis on the need to develop a multidisciplinary strategy that encompasses all aspects of SCD prevention and treatment. The Commission provides a critical assessment of the current scientific efforts in the field, and puts forth key recommendations to challenge, activate, and intensify efforts by both the scientific and global community with new directions, research, and innovation to reduce the burden of SCD worldwide.

Published
2023

8. The aortic root in young adults

Author

Chatrath, N, primary, Bhatia, R, additional, Fyyaz, S, additional, Forster, J, additional, Marwaha, S, additional, Scrocco, C, additional, Jayaratne, N, additional, Ensam, B, additional, Androulakis, E, additional, Al-Turaihi, S, additional, Sharma, S, additional, Tome Esteban, M, additional, and Papadakis, M, additional

Published
2023
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9. Submaximal in addition to peak stress echocardiogram differentiates pathological LV dilatation from physiological dilatation and could help facilitate early heart failure diagnosis

Author

Marwaha, S, primary, Fanton, Z, additional, Bulleros, P, additional, Simmons, R, additional, Bhatia, R, additional, Chatrath, N, additional, Fyyaz, S, additional, Tome, M, additional, Finocchiaro, G, additional, Ghati, S, additional, Prasad, S, additional, Papadakis, M, additional, and Sharma, S, additional

Published
2023
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11. Fragmented QRS complexes in veteran athletes

Author

Fyyaz, S, primary, Ujeyl, A, additional, Al-Turaihi, S, additional, Papatheodorou, E, additional, Merghani, A, additional, Chatrath, N, additional, Parry-Williams, G, additional, Bhatia, R, additional, Bulleros, P, additional, Fanton, Z, additional, Tome-Esteban, M, additional, Papadakis, M, additional, Alfakih, K, additional, Moon, J C, additional, and Sharma, S, additional

Published
2023
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13. Vitamin K Antagonists After 6 Months of Low-Molecular-Weight Heparin in Cancer Patients with Venous Thromboembolism

Author

Aibar, M.A., Arcelus, J.I., Ballaz, A., Barba, R., Barrón, M., Barrón-Andrés, B., Bascuñana, J., Blanco-Molina, A., Bueso, T., Calvo, B., Cañada, G., Cañas, I., Casado, I., Culla, A., de Miguel, J., del Toro, J., Díaz-Peromingo, J.A., Falgá, C., Fernández-Capitán, C., Font, C., Font, L., Gallego, P., García-Bragado, F., Gómez, V., González, J., Grau, E., Guil, M., Guirado, L., Gutiérrez, J., Hernández, G., Hernández-Blasco, L., Isern, V., Jara-Palomares, L., Jaras, M.J., Jiménez, D., Lacruz, B., Lecumberri, R., Lobo, J.L., López-Jiménez, L., López-Reyes, R., López-Sáez, J.B., Lorente, M.A., Lorenzo, A., Madridano, O., Maestre, A., Manrique-Abos, I., Marchena, P.J., Martín-Antorán, J.M., Martín-Martos, F., Monreal, M., Morales, M.V., Morillo, R., Nauffal, D., Nieto, J.A., Nieto, S., Núñez, M.J., Odriozola, M., Otalora, S., Otero, R., Pagán, B., Pedrajas, J.M., Pérez, C., Peris, M.L., Pons, I., Porras, J.A., Ramirez, L., Riera, A., Rivas, A., Rodríguez, C., Rodríguez-Dávila, M.A., Rosa, V., Ruiz-Giménez, N., Sampériz, A., Sánchez, R., Sala, M.C., Sahuquillo, J.C., Sanz, O., Soler, S., Suárez-González, I., Suriñach, J.M., Tiberio, G., Tolosa, C., Trujillo-Santos, J., Uresandi, F., Valero, B., Valle, R., Vela, J., Vicente, M.P., Vidal, G., Vilella-Tomás, V., Villalta, J., Malfante, P.C., Vanassche, T., Verhamme, P., Wells, P., Hirmerova, J., Malý, R., Tomko, T., Celis, G., Salgado, E., Sánchez, G.T., Bertoletti, L., Bura-Riviere, A., Farge-Bancel, D., Hij, A., Mahé, I., Merah, A., Quere, I., Papadakis, M., Braester, A., Brenner, B., Tzoran, I., Apollonio, A., Barillari, G., Bertone, A., Bilora, F., Bucherini, E., Candelero, G., Ciammaichella, M., Di Micco, P., Ferrazzi, P., Grandone, E., Lessiani, G., Lodigiani, C., Mastroiacovo, D., Pace, F., Pesavento, R., Pinelli, M., Prandoni, P., Rosa, M., Rota, L., Tiraferri, E., Tonello, D., Tufano, A., Venturelli, U., Visonà, A., Zalunardo, B., Drucka, E., Kigitovica, D., Skride, A., Sousa, M.S., Bosevski, M., Zdraveska, M., Bounameaux, H., Mazzolai, L., Serrano, J.C., Chai-Adisaksopha, Chatree, Iorio, Alfonso, Crowther, Mark A., de Miguel, Javier, Salgado, Estuardo, Zdraveska, Marija, Fernández-Capitán, Carmen, Nieto, José Antonio, Barillari, Giovanni, Bertoletti, Laurent, and Monreal, Manuel

Published
2018
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15. Development of a Risk Prediction Score for Occult Cancer in Patients With VTE

Author

Monreal, Manuel, Decousus, Hervè, Prandoni, Paolo, Brenner, Benjamin, Barba, Raquel, Di Micco, Pierpaolo, Bertoletti, Laurent, Tzoran, Inna, Reis, Abilio, Bosevski, Marijan, Bounameaux, Henri, Malý, Radovan, Wells, Philip, Papadakis, Manolis, Aibar, M.A., Alfonso, M., Asensio-Cruz, M.I., Auguet, T., Arcelus, J.I., Barba, R., Barrón, M., Barrón-Andrés, B., Bascuñana, J., Blanco-Molina, A., Bueso, T., Cañas, I., Ceausu, A., Chic, N., Culla, A., del Pozo, R., del Toro, J., Díaz-Pedroche, M.C., Díaz-Peromingo, J.A., Duffort, M., Elias-Hernández, T., Falgá, C., Fernández-Aracil, C., Fernández-Capitán, C., Fidalgo, M.A., Font, C., Font, L., Gallego, P., García, M.A., García-Bragado, F., García-Rodenas, M., Gómez, V., González, J., Grau, E., Grimón, A., Guijarro, R., Guirado, L., Gutiérrez, J., Hernández-Comes, G., Hernández-Blasco, L., Hernando-López, E., Jara-Palomares, L., Jaras, M.J., Jiménez, D., Joya, M.D., Llamas, P., Lecumberri, R., Lobo, J.L., López-Jiménez, L., López-Reyes, R., López-Sáez, J.B., Lorente, M.A., Lorenzo, A., Maestre, A., Marchena, P.J., Martín, M., Martín-Martos, F., Monreal, M., Nieto, J.A., Nieto, S., Núñez, A., Núñez, M.J., Odriozola, M., Otalora, S., Otero, R., Ovejero, A., Pedrajas, J.M., Pérez, G., Pérez-Ductor, C., Peris, M.L., Porras, J.A., Reig, O., Riera-Mestre, A., Riesco, D., Rivas, A., Rodríguez-Dávila, M.A., Rosa, V., Ruiz-Artacho, P., Ruiz-Giménez, N., Sahuquillo, J.C., Sala-Sainz, M.C., Sampériz, A., Sánchez, R., Sanz, O., Soler, S., Sopeña, B., Suriñach, J.M., Tolosa, C., Trujillo-Santos, J., Uresandi, F., Valero, B., Valle, R., Vela, J., Vicente, P., Vidal, G., Villalobos, A., Villalta, J., Vanassche, T., Verhamme, P., Wells, P., Hirmerova, J., Malý, R., Salgado, E., Bertoletti, L., Bura-Riviere, A., Farge-Bancel, D., Hij, A., Mahé, I., Merah, A., Moustafa, F., Papadakis, M., Braester, A., Brenner, B., Tzoran, I., Antonucci, G., Barillari, G., Bertone, A., Bilora, F., Bortoluzzi, C., Ciammaichella, M., Di Girolamo, C., Di Micco, P., Duce, R., Ferrazzi, P., Giorgi-Pierfranceschi, M., Grandone, E., Lodigiani, C., Maida, R., Mastroiacovo, D., Pace, F., Pesavento, R., Pinelli, M., Poggio, R., Prandoni, P., Rota, L., Tiraferri, E., Tonello, D., Tufano, A., Visonà, A., Zalunardo, B., Drucka, E., Kigitovica, D., Skride, A., Sousa, M.S., Bosevski, M., Zdraveska, M., Bounameaux, H., Mazzolai, L., Jara-Palomares, Luis, Otero, Remedios, Jimenez, David, Carrier, Marc, Margeli, Mireia, Praena-Fernandez, Juan Manuel, and Grandone, Elvira

Published
2017
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16. The Clinical Course of Venous Thromboembolism May Differ According to Cancer Site

Author

Aibar, M.A., Arcelus, J.I., Ballaz, A., Barba, R., Barrón, M., Barrón-Andrés, B., Bascuñana, J., Blanco-Molina, A., Bueso, T., Casado, I., Culla, A., de Miguel, J., del Toro, J., Díaz-Peromingo, J.A., Falgá, C., Fernández-Capitán, C., Font, C., Font, L., Gallego, P., García-Bragado, F., García-Brotons, P., Gómez, V., González, J., Grau, E., Grimón, A., Guirado, L., Gutiérrez, J., Hernández, G., Hernández-Blasco, L., Isern, V., Jara-Palomares, L., Jaras, M.J., Jiménez, D., Lacruz, B., Lecumberri, R., Lobo, J.L., López-Jiménez, L., López-Reyes, R., López-Sáez, J.B., Lorente, M.A., Lorenzo, A., Madridano, O., Marchena, P.J., Martín-Antorán, J.M., Martín-Martos, F., Monreal, M., Morales, M.V., Nauffal, D., Nieto, J.A., Nieto, S., Núñez, M.J., Otalora, S., Otero, R., Pagán, B., Pedrajas, J.M., Pérez, C., Pérez, G., Peris, M.L., Porras, J.A., Ramírez, L., Reig, O., Riera, A., Rivas, A., Rodríguez-Dávila, M.A., Rosa, V., Ruiz-Artacho, P., Ruiz-Giménez, N., Ruiz-Martínez, C., Sampériz, A., Sala, C., Sanz, O., Soler, S., Sopeña, B., Suarez, I., Suriñach, J.M., Tiberio, G., Tolosa, C., Trujillo-Santos, J., Uresandi, F., Valle, R., Vela, J., Villalta, J., Malfante, P.C., Verhamme, P., Wells, P., Hirmerova, J., Malý, R., Tomko, T., Salgado, E., Bertoletti, L., Bura-Riviere, A., Farge-Bancel, D., Hij, A., Mahé, I., Merah, A., Papadakis, M., Braester, A., Brenner, B., Tzoran, I., Apollonio, A., Barillari, G., Candeloro, G., Ciammaichella, M., Di Micco, P., Ferrazzi, P., Grandone, E., Lessiani, G., Lodigiani, C., Mastroiacovo, D., Pace, F., Pinelli, M., Prandoni, P., Rota, L., Tiraferri, E., Tufano, A., Visonà, A., Belovs, A., Skride, A., Moreira, M., Ribeiro, J.L., Sousa, M.S., Bosevski, M., Zdraveska, M., Alatri, A., Bounameaux, H., Calanca, L., Mazzolai, L., Serrano, J.C., Decousus, Hervé, Reis, Abilio, Mahé, Isabelle, Chidiac, Jean, Bertoletti, Laurent, Font, Carme, Trujillo-Santos, Javier, Peris, Marisa, Pérez Ductor, Cristina, Nieto, Santiago, Grandone, Elvira, and Monreal, Manuel

Published
2017
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17. Analysis of noncatheter-associated upper extremity deep venous thrombosis from the RIETE registry

Author

Monreal, Manuel, Decousus, Hervè, Prandoni, Paolo, Brenner, Benjamin, Barba, Raquel, Di Micco, Pierpaolo, Bertoletti, Laurent, Tzoran, Inna, Reis, Abilio, Bosevski, Marijan, Bounameaux, Henri, Malý, Radovan, Wells, Philip, Papadakis, Manolis, Agüero, R., Aibar, M.A., Alfonso, M., Aranda, R., Arcelus, J.I., Barba, R., Barrón, M., Barrón-Andrés, B., Bascuñana, J., Binetti, J., Blanco-Molina, A., Bueso, T., Cañas, I., Carmona, F., Chic, N., Culla, A., del Pozo, R., del Toro, J., Díaz-Pedroche, M.C., Díaz-Peromingo, J.A., Falgá, C., Fernández-Aracil, C., Fernández-Capitán, C., Fidalgo, M.A., Font, C., Font, L., Gallego, P., García, M.A., García-Bragado, F., Gómez, V., González, J., Grau, E., Grimón, A., Guirado, L., Gutiérrez, J., Hernández-Comes, G., Hernández-Blasco, L., Jara-Palomares, L., Jaras, M.J., Jiménez, D., Joya, M.D., Lecumberri, R., Lobo, J.L., López-Jiménez, L., López-Reyes, R., López-Sáez, J.B., Lorente, M.A., Lorenzo, A., Manrique-Abos, I., Marchena, P.J., Martín, M., Martín-Antorán, J.M., Martín-Martos, F., Monreal, M., Nieto, J.A., Nieto, S., Núñez, A., Núñez, M.J., Otalora, S., Otero, R., Pagán, B., Pedrajas, J.M., Pérez, G., Pérez, I., Pérez-Ductor, C., Peris, M.L., Porras, J.A., Reig, O., Riera-Mestre, A., Riesco, D., Rivas, A., Rodríguez-Dávila, M.A., Rosa, V., Rosillo-Hernández, E., Ruiz-Artacho, P., Ruiz-Giménez, N., Sahuquillo, J.C., Sala-Sainz, M.C., Sampériz, A., Sánchez, R., Sanz, O., Soler, S., Sopeña, B., Suriñach, J.M., Tolosa, C., Trujillo-Santos, J., Uresandi, F., Valero, B., Valle, R., Vela, J., Vidal, G., Villalta, J., Vanassche, T., Verhamme, P., Wells, P., Hirmerova, J., Malý, R., Salgado, E., Bertoletti, L., Bura-Riviere, A., Champion, K., Farge-Bancel, D., Hij, A., Mahé, I., Merah, A., Papadakis, M., Braester, A., Brenner, B., Tzoran, I., Antonucci, G., Barillari, G., Bilora, F., Ciammaichella, M., Dentali, F., Di Micco, P., Duce, R., Ferrazzi, P., Grandone, E., Lodigiani, C., Maida, R., Pace, F., Pesavento, R., Poggio, R., Prandoni, P., Rota, L., Tiraferri, E., Tonello, D., Tufano, A., Visonà, A., Zalunardo, B., Drucka, E., Kigitovica, D., Skride, A., Ramos, A.R., Ribeiro, J.L., Sousa, M.S., Bosevski, M., Zdraveska, M., Bounameaux, H., Erdmann, A., Mazzolai, L., Ney, B., Newton, Daniel H., Monreal Bosch, Manuel, Amendola, Michael, Wolfe, Luke, Perez Ductor, Cristina, Lecumberri, Ramón, and Levy, Mark M.

Published
2017
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18. The potential therapeutic effect of metformin in type 2 diabetic patients with severe COVID-19.

Author

AL-KURAISHY, H. M., AL-GAREEB, A. I., EL KHOLY, A. A., EL-KHATEEB, E., ALEXIOU, A., PAPADAKIS, M., ELEKHNAWY, E., ALSUBAIE, N., HAMAD, R. S., and BATIHA, G. E.

Abstract

OBJECTIVE: Type 2 diabetes mellitus (T2DM) is regarded as a chief risk factor for(coronavirus disease 2019 (COVID-19) owing to dysregulation of the expression of angiotensin-converting enzyme 2 (ACE2) and chronic low-grade inflammatory disorders. Metformin, an insulin-sensitizing agent for managing T2DM, has pleiotropic anti-inflammatory and oxidant potentials, which may lessen the risk of diabetic complications. So, we aimed to reveal the potential role of metformin monotherapy in treating T2DM patients with COVID-19. PATIENTS AND METHODS: In this prospective cohort study, 60 hospitalized T2DM patients with COVID-19 on metformin plus standard anti-COVID-19 treatments compared to 40 hospitalized T2DM patients with COVID-19 on other diabetic pharmacotherapy like insulin and sulfonylurea, were recruited. Inflammatory and oxidative stress biomarkers and radiological and clinical outcomes were assessed at admission time and at the time of discharge. RESULTS: The results of this study illustrated that metformin treatment in T2DM patients with COVID-19 was more effective in reducing inflammatory and oxidative stress biomarkers with significant amelioration of radiological scores and clinical outcomes compared to T2DM patients with COVID-19 on another diabetic pharmacotherapy. CONCLUSIONS: Our findings highlighted that metformin efficiently managed T2DM patients with COVID-19 by reducing inflammatory and oxidative stress with mitigating effects on the radiological scores and clinical outcomes. [ABSTRACT FROM AUTHOR]

Published
2023

19. Prevalence and diagnostic significance of de-novo 12-lead electrocardiogram patterns following covid-19 infection in elite soccer players

Author

Bhatia, R, primary, Malhotra, A, additional, Maclachlan, H, additional, Gati, S, additional, Marwaha, S, additional, Chatrath, N, additional, Fyyaz, S, additional, Cooper, R, additional, Daems, J, additional, Hattum, J, additional, Finocchiaro, G, additional, Stein, R, additional, Jorstad, H, additional, Papadakis, M, additional, and Sharma, S, additional

Published
2023
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21. Outcome of a nationwide screening programme in young individuals

Author

Maclachlan, H, primary, Bhatia, R, additional, Dhutia, H, additional, Fyyaz, S, additional, Chatrath, N, additional, Basu, J, additional, Miles, C, additional, Finocchiaro, G, additional, Gati, S, additional, Specterman, M, additional, Tome, M, additional, Malhotra, A, additional, Behr, E, additional, Sharma, S, additional, and Papadakis, M, additional

Published
2023
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25. Intralesional photodynamic therapy induces apoptosis in basal cell carcinoma and Bowen's disease through caspase 3 and granzyme B

Author

Evangelou, G., primary, Koumaki, D., additional, Fragiadaki, I., additional, Chaniotis, V., additional, Farrar, M. D., additional, Karatzi, C., additional, Sotiriou, E., additional, Giannikaki, E., additional, Katoulis, A., additional, Papadakis, M., additional, Lallas, A., additional, Stefanidou, M., additional, Krueger‐Krasagakis, S., additional, Rhodes, L. E., additional, and Krasagakis, K., additional

Published
2023
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26. Comparison of echocardiographic methods for calculating left ventricular mass in elite rugby football league athletes and the impact on chamber geometry.

Author

McGregor-Cheers, R., Forsythe, L., Cooper, R., Johnson, C., Sculthorpe, N., Papadakis, M., Mill, N., Daniels, M., Kleinnibbelink, G., George, K., Oxborough, D., McGregor-Cheers, R., Forsythe, L., Cooper, R., Johnson, C., Sculthorpe, N., Papadakis, M., Mill, N., Daniels, M., Kleinnibbelink, G., George, K., and Oxborough, D.

Abstract

Item does not contain fulltext, BACKGROUND: Recommendations for the echocardiographic assessment of left ventricular (LV) mass in the athlete suggest the use of the linear method using a two-tiered classification system (2TC). The aims of this study were to compare the linear method and the area-length (A-L) method for LV mass in elite rugby football league (RFL) athletes and to establish how any differences impact the classification of LV geometry using 2TC and four-tier (4TC) classification systems. METHODS: Two hundred and twenty (220) male RFL athletes aged 25 ± 5 (14-34 years) were recruited. All athletes underwent echocardiography and LV mass was calculated by the American Society of Echocardiography (ASE) corrected Linear equation (2D) and the A-L method. Left ventricular mass Index (LVMi) was used with relative wall thickness to determine geometry in the 2TC and with concentricity and LV end diastolic volume index for the 4TC. Method specific recommended cut-offs were utilised. RESULTS: Higher values of absolute (197 ± 34 vs. 181 ± 34 g; p < 0.0001) and indexed (92 ± 13 vs. 85 ± 13 g/m(2); p < 0.0001) measures of LV mass were obtained from A-L compared to the linear method. Normal LV geometry was demonstrated in 98.2% and 80% of athletes whilst eccentric hypertrophy in 1.4% and 19.5% for linear and A-L respectively. Both methods provided 0.5% as having concentric remodelling and 0% as having concentric hypertrophy. Allocation to the 4TC resulted in 97% and 80% with normal geometry, 0% and 8.6% with eccentric dilated hypertrophy, 0% and 7.7% with eccentric non-dilated hypertrophy, 1.4% and 0.5% with concentric remodelling and 1.4% and 3% with concentric non-dilated hypertrophy for linear and A-L methods respectively. No participants had concentric dilated hypertrophy from either methods. CONCLUSION: The linear and A-L method for calculation of LV mass in RFL athletes are not interchangeable with significantly higher values obtained using A-L method impacting on geometry classification. More

Published
2023

27. DVT Management and Outcome Trends, 2001 to 2014

Author

Monreal, Manuel, Decousus, Hervè, Prandoni, Paolo, Brenner, Benjamin, Barba, Raquel, Di Micco, Pierpaolo, Bertoletti, Laurent, Schellong, Sebastian, Tzoran, Inna, Reis, Abilio, Bosevski, Marijan, Bounameaux, Henri, Malý, Radovan, Wells, Philip, Papadakis, Manolis, Agudo, P., Aibar, M.A., Akasbi, M., Alcalde-Manero, M., Andújar, V., Arcelus, J.I., Ballaz, A., Barba, R., Barrón, M., Barrón-Andrés, B., Bascuñana, J., Blanco-Molina, A., Cañas, I., Casado, I., de Miguel, J., del Toro, J., Díaz, S., Díaz-Peromingo, J.A., Falgá, C., Fernández-Capitán, C., Font, C., Font, L., Gallego, P., García-Bragado, F., García-Rodenas, M., Gómez, V., González, C.J., Grau, E., Guirado, L., Gutiérrez, J., Hernández, G., Hernández-Blasco, L., Isern, V., Jara-Palomares, L., Jaras, M.J., Jiménez, D., Lobo, J.L., López-Jiménez, L., López-Reyes, R., López-Sáez, J.B., Lorente, M.A., Lorenzo, A., Madridano, O., Maestre, A., Marchena, P.J., Martín, M., Martín-Antorán, J.M., Martín-Martos, F., Monreal, M., Morales, M.V., Nauffal, D., Nieto, J.A., Nieto, S., Núñez, M.J., Orbegoso, C., Otalora, S., Otero, R., Pagán, B., Pedrajas, J.M., Pérez, C., Pérez, G., Peris, M.L., Pons, I., Porras, J.A., Reig, O., Riera-Mestre, A., Rivas, A., Rodríguez, C., Rodríguez-Dávila, M.A., Rosa, V., Rosa-Murillo, A.S., Ruiz-Giménez, N., Sahuquillo, J.C., Sala, M.C., Sampériz, A., Sánchez, R., Sanz, O., Soler, S., Suriñach, J.M., Tolosa, C., Trujillo-Santos, J., Uresandi, F., Valero, B., Valle, R., Vela, J., Vidal, G., Vilar, C., Villalta, J., Xifre, B., Vanassche, T., Verhamme, P., Wells, P., Hirmerova, J., Malý, R., Tomko, T., Celis, G., Salgado, E., Sánchez, G.T., Bertoletti, L., Bura-Riviere, A., Farge-Bancel, D., Hij, A., Mahé, I., Merah, A., Quere, I., Papadakis, M., Braester, A., Brenner, B., Tzoran, I., Apollonio, A., Barillari, G., Bertone, A., Bilora, F., Bucherini, E., Ciammaichella, M., De Ciantis, P., Dentali, F., Di Micco, P., Duce, R., Ferrazzi, P., Grandone, E., Lessiani, G., Lodigiani, C., Mastroiacovo, D., Pace, F., Pesavento, R., Pinelli, M., Poggio, R., Prandoni, P., Rosa, M., Rota, L., Tiraferri, E., Tonello, D., Tufano, A., Venturelli, U., Visonà, A., Zalunardo, B., Drucka, E., Kigitovica, D., Skride, A., Mafalda, A., Ribeiro, J.L., Sousa, M.S., Bosevski, M., Zdraveska, M., Bounameaux, H., Mazzolai, L., Morillo, Raquel, Jiménez, David, Aibar, Miguel Ángel, Mastroiacovo, Daniela, Wells, Philip S., Sampériz, Ángel, Saraiva de Sousa, Marta, Muriel, Alfonso, and Yusen, Roger D.

Published
2016
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28. A prognostic score to identify low‐risk outpatients with acute deep vein thrombosis in the upper extremity

Author

Rosa‐Salazar, V., Trujillo‐Santos, J., Díaz Peromingo, J.A., Apollonio, A., Sanz, O., Malý, R., Muñoz‐Rodriguez, F.J., Serrano, J.C., Soler, S., Monreal, M., Decousus, H., Prandoni, P., Brenner, B., Barba, R., Di Micco, P., Bertoletti, L., Schellong, S., Tzoran, I., Reis, A., Bosevski, M., Bounameaux, H., Wells, P., Papadakis, M., Adarraga, M.D., Alibalic, A., Alvarado‐Faria, A., Arcelus, J.I., Auguet, T., Ballaz, A., Barrón, M., Barrón‐Andrés, B., Bascuñana, J., Benítez, J.F., Blanco‐Molina, A., Bueso, T., Cañas, A., Casado, A., Castejón‐Pina, N., Chaves, E.L., del Molino, F, del Toro, J, Falgá, C., Fernández‐Capitán, C., Font, L., Gallego, P., García‐Bragado, F., García‐Ortega, A., Gómez, V., González, J., González‐Marcano, D., Grau, E., Guijarro, R., Guil, M., Guirado, L., Gutiérrez‐Guisado, J., Hernández‐Blasco, L., Jara‐Palomares, L., Jaras, M.J., Jiménez, D., Jiménez, R., Lacruz, B., Lecumberri, R., Lobo, J.L., López‐Jiménez, L., López‐Montes, L., López‐Reyes, R., López‐Sáez, J.B., Lorente, M.A., Lorenzo, A., Madridano, O., Maestre, A., Marchena, P.J., Martín‐Antorán, J.M., Martín‐Martos, F., Morales, M.V., Nauffal, D., Nieto, J.A., Núñez, M.J., Otalora, S., Otero, R., Pagán, B., Pedrajas, J.M., Peris, M.L., Pons, I., Porras, J.A., Riera‐Mestre, A., Rivas, A., Rodríguez‐Dávila, M.A., Ruiz‐Giménez, N., Sabio, P., Sampériz, A., Sánchez, R., Soto, M.J., Suriñach, J.M., Tiberio, G., Tirado, R., Tolosa, C., Uresandi, F., Valero, B., Valle, R., Vela, J., Villalobos, A., Villalta, J., Malfante, P., Verhamme, P., Vanassche, T., Tomko, T., Hirmerova, J., Bura‐Riviere, A., Farge‐Bancel, D., Hij, A., Mahe, I., Merah, A., Moustafa, F., Quere, I., Babalis, D., Tzinieris, I., Braester, A., Barillari, G., Bucherini, E., Campodomico, J., Ciammaichella, M., Ferrazzi, P., Maida, R., Pace, F., Pasca, S., Pesavento, R., Piovella, C., Rota, L., Tiraferri, E., Tufano, A., Visonà, A., Skride, A., Belovs, A., Moreira, M., Ribeiro, J.L., Sousa, M.S., Alatri, A., Calanca, L., and Mazzolai, L.

Published
2015
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29. Subsequent arterial ischemic events in patients receiving anticoagulant therapy for venous thromboembolism

Author

Arcelus, J.I., Arroyo, M., Ballaz, A., Barba, R., Barrón, M., Barrón-Andrés, B., Bascuñana, J., Bedate, P., Blanco-Molina, A., Bueso, T., Casado, I., del Molino, F., del Toro, J., Falgá, C., Fernández-Capitán, C., Font, C., Fuentes, M.I., Gallego, P., García-Bragado, F., Gavín, O., Gómez, V., González, J., González-Bachs, E., Grau, E., Guil, M., Guijarro, R., Gutiérrez, J., Hernández, L., Hernández-Huerta, S., Jara-Palomares, L., Jaras, M.J., Jiménez, D., Lecumberri, R., Lobo, J.L., López-Jiménez, L., López-Sáez, J.B., Lorente, M.A., Lorenzo, A., Luque, J.M., Madridano, O., Macià, M., Maestre, A., Marchena, P.J., Martín, M., Martín-Villasclaras, J.J., Monreal, M., Mora, J.M., Mosquera, D., Muñoz, F.J., Nauffal, M.D., Nieto, J.A., Núñez, M.J., Ogea, J.L., Otero, R., Pedrajas, J.M., Peris, M.L., Riera-Mestre, A., Rivas, A., Rodríguez-Dávila, M.A., Román, P., Rosa, V., Ruiz, J., Ruiz-Gamietea, A., Ruiz-Giménez, N., Sahuquillo, J.C., Samperiz, A., Sánchez Muñoz-Torrero, J.F., Soler, S., Suriñach, J.M., Tiberio, G., Tilvan, R.M., Tolosa, C., Trujillo, J., Uresandi, F., Valdés, M., Valero, B., Valle, R., Vela, J., Vidal, G., Vilar, C., Villalobos, A., Villalta, J., Malý, R., Hirmerova, J., Miklo sová, M., Salgado, E., Bertoletti, L., Bura-Riviere, A., Farge-Bancel, D., Mahe, I., Merah, A., Quere, I., Schellong, S., Babalis, D., Papadakis, M., Tzinieris, I., Braester, A., Brenner, B., Tzoran, I., Zeltser, D., Barillari, G., Ciammaichella, M., Di Micco, P., Duce, R., Maida, R., Dalla Valle, F., Piovella, C., Poggio, R., Prandoni, P., Quintavalla, R., Rota, L., Schenone, A., Tiraferri, E., Tonello, D., Tufano, A., Visonà, A., Zalunardo, B., Fernandes, M., Gonçalves, F., Santos, M., Saraiva, M., Sousa, R., Bosevski, M., Kovacevic, D., Alatri, A., Aujeski, D., Bounameaux, H., Calanca, L., Mazzolai, L., Madridano, Olga, del Toro, Jorge, Lorenzo, Alicia, Martín, Mar, Gómez Cerezo, Jorge, Hernández, Luis, Prandoni, Paolo, and Monreal, Manuel

Published
2015
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31. Exercise induced coronary inflammation in masters athletes

Author

Papatheodorou, E, primary, Kissel, C, additional, Merghani, A, additional, Hughes, R, additional, Torlasco, C, additional, Bakalakos, A, additional, Downs, E, additional, Parry-Williams, G, additional, Finocchiaro, G, additional, Malhotra, A, additional, Moon, J C, additional, Papadakis, M, additional, Al Fakih, K, additional, Dey, D, additional, and Sharma, S, additional

Published
2022
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33. Prevalence and diagnostic significance of novel 12-lead ECG patterns following COVID-19 infection in elite soccer players

Author

Bhatia, R, primary, Malhotra, A, additional, MacLachlan, H, additional, Gati, S, additional, Kasiakogias, A, additional, Marwaha, S, additional, Chatrath, N, additional, Fyyaz, S, additional, Cooper, R, additional, Rakhit, D, additional, Varnava, A, additional, Esteban, M, additional, Finocchiaro, G, additional, Papadakis, M, additional, and Sharma, S, additional

Published
2022
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37. Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

Author

Walsh, R, Lahrouchi, N, Tadros, R, Kyndt, F, Glinge, C, Postema, P, Amin, A, Nannenberg, E, Ware, J, Whiffin, N, Mazzarotto, F, Skoric-Milosavljevic, D, Krijger, C, Arbelo, E, Babuty, D, Barajas-Martinez, H, Beckmann, B, Bezieau, S, Bos, J, Breckpot, J, Campuzano, O, Castelletti, S, Celen, C, Clauss, S, Corveleyn, A, Crotti, L, Dagradi, F, de Asmundis, C, Denjoy, I, Dittmann, S, Ellinor, P, Ortuno, C, Giustetto, C, Gourraud, J, Hazeki, D, Horie, M, Ishikawa, T, Itoh, H, Kaneko, Y, Kanters, J, Kimoto, H, Kotta, M, Krapels, I, Kurabayashi, M, Lazarte, J, Leenhardt, A, Loeys, B, Lundin, C, Makiyama, T, Mansourati, J, Martins, R, Mazzanti, A, Morner, S, Napolitano, C, Ohkubo, K, Papadakis, M, Rudic, B, Molina, M, Sacher, F, Sahin, H, Sarquella-Brugada, G, Sebastiano, R, Sharma, S, Sheppard, M, Shimamoto, K, Shoemaker, M, Stallmeyer, B, Steinfurt, J, Tanaka, Y, Tester, D, Usuda, K, van der Zwaag, P, Van Dooren, S, Van Laer, L, Winbo, A, Winkel, B, Yamagata, K, Zumhagen, S, Volders, P, Lubitz, S, Antzelevitch, C, Platonov, P, Odening, K, Roden, D, Roberts, J, Skinner, J, Tfelt-Hansen, J, van den Berg, M, Olesen, M, Lambiase, P, Borggrefe, M, Hayashi, K, Rydberg, A, Nakajima, T, Yoshinaga, M, Saenen, J, Kaab, S, Brugada, P, Robyns, T, Giachino, D, Ackerman, M, Brugada, R, Brugada, J, Gimeno, J, Hasdemir, C, Guicheney, P, Priori, S, Schulze-Bahr, E, Makita, N, Schwartz, P, Shimizu, W, Aiba, T, Schott, J, Redon, R, Ohno, S, Probst, V, Arnaout, A, Amelot, M, Anselme, F, Billon, O, Defaye, P, Dupuis, J, Jesel, L, Laurent, G, Maury, P, Pasquie, J, Wiart, F, Behr, E, Barc, J, Bezzina, C, Walsh R., Lahrouchi N., Tadros R., Kyndt F., Glinge C., Postema P. G., Amin A. S., Nannenberg E. A., Ware J. S., Whiffin N., Mazzarotto F., Skoric-Milosavljevic D., Krijger C., Arbelo E., Babuty D., Barajas-Martinez H., Beckmann B. M., Bezieau S., Bos J. M., Breckpot J., Campuzano O., Castelletti S., Celen C., Clauss S., Corveleyn A., Crotti L., Dagradi F., de Asmundis C., Denjoy I., Dittmann S., Ellinor P. T., Ortuno C. G., Giustetto C., Gourraud J. -B., Hazeki D., Horie M., Ishikawa T., Itoh H., Kaneko Y., Kanters J. K., Kimoto H., Kotta M. -C., Krapels I. P. C., Kurabayashi M., Lazarte J., Leenhardt A., Loeys B. L., Lundin C., Makiyama T., Mansourati J., Martins R. P., Mazzanti A., Morner S., Napolitano C., Ohkubo K., Papadakis M., Rudic B., Molina M. S., Sacher F., Sahin H., Sarquella-Brugada G., Sebastiano R., Sharma S., Sheppard M. N., Shimamoto K., Shoemaker M. B., Stallmeyer B., Steinfurt J., Tanaka Y., Tester D. J., Usuda K., van der Zwaag P. A., Van Dooren S., Van Laer L., Winbo A., Winkel B. G., Yamagata K., Zumhagen S., Volders P. G. A., Lubitz S. A., Antzelevitch C., Platonov P. G., Odening K. E., Roden D. M., Roberts J. D., Skinner J. R., Tfelt-Hansen J., van den Berg M. P., Olesen M. S., Lambiase P. D., Borggrefe M., Hayashi K., Rydberg A., Nakajima T., Yoshinaga M., Saenen J. B., Kaab S., Brugada P., Robyns T., Giachino D. F., Ackerman M. J., Brugada R., Brugada J., Gimeno J. R., Hasdemir C., Guicheney P., Priori S. G., Schulze-Bahr E., Makita N., Schwartz P. J., Shimizu W., Aiba T., Schott J. -J., Redon R., Ohno S., Probst V., Arnaout A. A., Amelot M., Anselme F., Billon O., Defaye P., Dupuis J. -M., Jesel L., Laurent G., Maury P., Pasquie J. -L., Wiart F., Behr E. R., Barc J., Bezzina C. R., Walsh, R, Lahrouchi, N, Tadros, R, Kyndt, F, Glinge, C, Postema, P, Amin, A, Nannenberg, E, Ware, J, Whiffin, N, Mazzarotto, F, Skoric-Milosavljevic, D, Krijger, C, Arbelo, E, Babuty, D, Barajas-Martinez, H, Beckmann, B, Bezieau, S, Bos, J, Breckpot, J, Campuzano, O, Castelletti, S, Celen, C, Clauss, S, Corveleyn, A, Crotti, L, Dagradi, F, de Asmundis, C, Denjoy, I, Dittmann, S, Ellinor, P, Ortuno, C, Giustetto, C, Gourraud, J, Hazeki, D, Horie, M, Ishikawa, T, Itoh, H, Kaneko, Y, Kanters, J, Kimoto, H, Kotta, M, Krapels, I, Kurabayashi, M, Lazarte, J, Leenhardt, A, Loeys, B, Lundin, C, Makiyama, T, Mansourati, J, Martins, R, Mazzanti, A, Morner, S, Napolitano, C, Ohkubo, K, Papadakis, M, Rudic, B, Molina, M, Sacher, F, Sahin, H, Sarquella-Brugada, G, Sebastiano, R, Sharma, S, Sheppard, M, Shimamoto, K, Shoemaker, M, Stallmeyer, B, Steinfurt, J, Tanaka, Y, Tester, D, Usuda, K, van der Zwaag, P, Van Dooren, S, Van Laer, L, Winbo, A, Winkel, B, Yamagata, K, Zumhagen, S, Volders, P, Lubitz, S, Antzelevitch, C, Platonov, P, Odening, K, Roden, D, Roberts, J, Skinner, J, Tfelt-Hansen, J, van den Berg, M, Olesen, M, Lambiase, P, Borggrefe, M, Hayashi, K, Rydberg, A, Nakajima, T, Yoshinaga, M, Saenen, J, Kaab, S, Brugada, P, Robyns, T, Giachino, D, Ackerman, M, Brugada, R, Brugada, J, Gimeno, J, Hasdemir, C, Guicheney, P, Priori, S, Schulze-Bahr, E, Makita, N, Schwartz, P, Shimizu, W, Aiba, T, Schott, J, Redon, R, Ohno, S, Probst, V, Arnaout, A, Amelot, M, Anselme, F, Billon, O, Defaye, P, Dupuis, J, Jesel, L, Laurent, G, Maury, P, Pasquie, J, Wiart, F, Behr, E, Barc, J, Bezzina, C, Walsh R., Lahrouchi N., Tadros R., Kyndt F., Glinge C., Postema P. G., Amin A. S., Nannenberg E. A., Ware J. S., Whiffin N., Mazzarotto F., Skoric-Milosavljevic D., Krijger C., Arbelo E., Babuty D., Barajas-Martinez H., Beckmann B. M., Bezieau S., Bos J. M., Breckpot J., Campuzano O., Castelletti S., Celen C., Clauss S., Corveleyn A., Crotti L., Dagradi F., de Asmundis C., Denjoy I., Dittmann S., Ellinor P. T., Ortuno C. G., Giustetto C., Gourraud J. -B., Hazeki D., Horie M., Ishikawa T., Itoh H., Kaneko Y., Kanters J. K., Kimoto H., Kotta M. -C., Krapels I. P. C., Kurabayashi M., Lazarte J., Leenhardt A., Loeys B. L., Lundin C., Makiyama T., Mansourati J., Martins R. P., Mazzanti A., Morner S., Napolitano C., Ohkubo K., Papadakis M., Rudic B., Molina M. S., Sacher F., Sahin H., Sarquella-Brugada G., Sebastiano R., Sharma S., Sheppard M. N., Shimamoto K., Shoemaker M. B., Stallmeyer B., Steinfurt J., Tanaka Y., Tester D. J., Usuda K., van der Zwaag P. A., Van Dooren S., Van Laer L., Winbo A., Winkel B. G., Yamagata K., Zumhagen S., Volders P. G. A., Lubitz S. A., Antzelevitch C., Platonov P. G., Odening K. E., Roden D. M., Roberts J. D., Skinner J. R., Tfelt-Hansen J., van den Berg M. P., Olesen M. S., Lambiase P. D., Borggrefe M., Hayashi K., Rydberg A., Nakajima T., Yoshinaga M., Saenen J. B., Kaab S., Brugada P., Robyns T., Giachino D. F., Ackerman M. J., Brugada R., Brugada J., Gimeno J. R., Hasdemir C., Guicheney P., Priori S. G., Schulze-Bahr E., Makita N., Schwartz P. J., Shimizu W., Aiba T., Schott J. -J., Redon R., Ohno S., Probst V., Arnaout A. A., Amelot M., Anselme F., Billon O., Defaye P., Dupuis J. -M., Jesel L., Laurent G., Maury P., Pasquie J. -L., Wiart F., Behr E. R., Barc J., and Bezzina C. R.

Abstract

Purpose: Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific customization of American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines can address this false negative rate. Methods: We compared rare variant frequencies from 1847 LQTS (KCNQ1/KCNH2/SCN5A) and 3335 BrS (SCN5A) cases from the International LQTS/BrS Genetics Consortia to population-specific gnomAD data and developed disease-specific criteria for ACMG/AMP evidence classes—rarity (PM2/BS1 rules) and case enrichment of individual (PS4) and domain-specific (PM1) variants. Results: Rare SCN5A variant prevalence differed between European (20.8%) and Japanese (8.9%) BrS patients (p = 5.7 × 10−18) and diagnosis with spontaneous (28.7%) versus induced (15.8%) Brugada type 1 electrocardiogram (ECG) (p = 1.3 × 10−13). Ion channel transmembrane regions and specific N-terminus (KCNH2) and C-terminus (KCNQ1/KCNH2) domains were characterized by high enrichment of case variants and >95% probability of pathogenicity. Applying the customized rules, 17.4% of European BrS and 74.8% of European LQTS cases had (likely) pathogenic variants, compared with estimated diagnostic yields (case excess over gnomAD) of 19.2%/82.1%, reducing VUS prevalence to close to background rare variant frequency. Conclusion: Large case–control data sets enable quantitative implementation of ACMG/AMP guidelines and increased sensitivity for inherited arrhythmia genetic testing.

Published
2021

41. SCN5A mutation type and a genetic risk score associate variably with brugada syndrome phenotype in SCN5A families

Author

Wijeyeratne, Y, Tanck, M, Mizusawa, Y, Batchvarov, V, Barc, J, Crotti, L, Bos, J, Tester, D, Muir, A, Veltmann, C, Ohno, S, Page, S, Galvin, J, Tadros, R, Muggenthaler, M, Raju, H, Denjoy, I, Schott, J, Gourraud, J, Skoric-Milosavljevic, D, Nannenberg, E, Redon, R, Papadakis, M, Kyndt, F, Dagradi, F, Castelletti, S, Torchio, M, Meitinger, T, Lichtner, P, Ishikawa, T, Wilde, A, Takahashi, K, Sharma, S, Roden, D, Borggrefe, M, Mckeown, P, Shimizu, W, Horie, M, Makita, N, Aiba, T, Ackerman, M, Schwartz, P, Probst, V, Bezzina, C, Behr, E, Wijeyeratne Y. D., Tanck M. W., Mizusawa Y., Batchvarov V., Barc J., Crotti L., Bos J. M., Tester D. J., Muir A., Veltmann C., Ohno S., Page S. P., Galvin J., Tadros R., Muggenthaler M., Raju H., Denjoy I., Schott J. -J., Gourraud J. -B., Skoric-Milosavljevic D., Nannenberg E. A., Redon R., Papadakis M., Kyndt F., Dagradi F., Castelletti S., Torchio M., Meitinger T., Lichtner P., Ishikawa T., Wilde A. A. M., Takahashi K., Sharma S., Roden D. M., Borggrefe M. M., McKeown P. P., Shimizu W., Horie M., Makita N., Aiba T., Ackerman M. J., Schwartz P. J., Probst V., Bezzina C. R., Behr E. R., Wijeyeratne, Y, Tanck, M, Mizusawa, Y, Batchvarov, V, Barc, J, Crotti, L, Bos, J, Tester, D, Muir, A, Veltmann, C, Ohno, S, Page, S, Galvin, J, Tadros, R, Muggenthaler, M, Raju, H, Denjoy, I, Schott, J, Gourraud, J, Skoric-Milosavljevic, D, Nannenberg, E, Redon, R, Papadakis, M, Kyndt, F, Dagradi, F, Castelletti, S, Torchio, M, Meitinger, T, Lichtner, P, Ishikawa, T, Wilde, A, Takahashi, K, Sharma, S, Roden, D, Borggrefe, M, Mckeown, P, Shimizu, W, Horie, M, Makita, N, Aiba, T, Ackerman, M, Schwartz, P, Probst, V, Bezzina, C, Behr, E, Wijeyeratne Y. D., Tanck M. W., Mizusawa Y., Batchvarov V., Barc J., Crotti L., Bos J. M., Tester D. J., Muir A., Veltmann C., Ohno S., Page S. P., Galvin J., Tadros R., Muggenthaler M., Raju H., Denjoy I., Schott J. -J., Gourraud J. -B., Skoric-Milosavljevic D., Nannenberg E. A., Redon R., Papadakis M., Kyndt F., Dagradi F., Castelletti S., Torchio M., Meitinger T., Lichtner P., Ishikawa T., Wilde A. A. M., Takahashi K., Sharma S., Roden D. M., Borggrefe M. M., McKeown P. P., Shimizu W., Horie M., Makita N., Aiba T., Ackerman M. J., Schwartz P. J., Probst V., Bezzina C. R., and Behr E. R.

Abstract

Background: Brugada syndrome (BrS) is characterized by the type 1 Brugada ECG pattern. Pathogenic rare variants in SCN5A (mutations) are identified in 20% of BrS families in whom incomplete penetrance and genotype-negative phenotype-positive individuals are observed. E1784K-SCN5A is the most common SCN5A mutation identified. We determined the association of a BrS genetic risk score (BrS-GRS) and SCN5A mutation type on BrS phenotype in BrS families with SCN5A mutations. Methods: Subjects with a spontaneous type 1 pattern or positive/negative drug challenge from cohorts harboring SCN5A mutations were recruited from 16 centers (n=312). Single nucleotide polymorphisms previously associated with BrS at genome-wide significance were studied in both cohorts: rs11708996, rs10428132, and rs9388451. An additive linear genetic model for the BrS-GRS was assumed (6 single nucleotide polymorphism risk alleles). Results: In the total population (n=312), BrS-GRS ≥4 risk alleles yielded an odds ratio of 4.15 for BrS phenotype ([95% CI, 1.45-11.85]; P=0.0078). Among SCN5A-positive individuals (n=258), BrS-GRS ≥4 risk alleles yielded an odds ratio of 2.35 ([95% CI, 0.89-6.22]; P=0.0846). In SCN5A-negative relatives (n=54), BrS-GRS ≥4 alleles yielded an odds ratio of 22.29 ([95% CI, 1.84-269.30]; P=0.0146). Among E1784K-SCN5A positive family members (n=79), hosting ≥4 risk alleles gave an odds ratio=5.12 ([95% CI, 1.93-13.62]; P=0.0011). Conclusions: Common genetic variation is associated with variable expressivity of BrS phenotype in SCN5A families, explaining in part incomplete penetrance and genotype-negative phenotype-positive individuals. SCN5A mutation genotype and a BrS-GRS associate with BrS phenotype, but the strength of association varies according to presence of a SCN5A mutation and severity of loss of function.

Published
2020

42. Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility (Nature Genetics, (2022), 54, 3, (232-239), 10.1038/s41588-021-01007-6)

Author

Julien Barc, Barc, J, Tadros, R, Glinge, C, Chiang, D, Jouni, M, Simonet, F, Jurgens, S, Baudic, M, Nicastro, M, Potet, F, Offerhaus, J, Walsh, R, Hoan Choi, S, Verkerk, A, Mizusawa, Y, Anys, S, Minois, D, Arnaud, M, Duchateau, J, Wijeyeratne, Y, Muir, A, Papadakis, M, Castelletti, S, Torchio, M, Gil Ortuño, C, Lacunza, J, Giachino, D, Cerrato, N, Martins, R, Campuzano, O, Van Dooren, S, Thollet, A, Kyndt, F, Mazzanti, A, Clémenty, N, Bisson, A, Corveleyn, A, Stallmeyer, B, Dittmann, S, Saenen, J, Noël, A, Honarbakhsh, S, Rudic, B, Marzak, H, Rowe, M, Federspiel, C, Le Page, S, Placide, L, Milhem, A, Barajas-Martinez, H, Beckmann, B, Krapels, I, Steinfurt, J, Gregers Winkel, B, Jabbari, R, Shoemaker, M, Boukens, B, Škorić-Milosavljević, D, Bikker, H, Manevy, F, Lichtner, P, Ribasés, M, Meitinger, T, Müller-Nurasyid, M, Group, K, Veldink, J, van den Berg, L, Van Damme, P, Cusi, D, Lanzani, C, Rigade, S, Charpentier, E, Baron, E, Bonnaud, S, Lecointe, S, Donnart, A, Le Marec, H, Chatel, S, Karakachoff, M, Bézieau, S, London, B, Tfelt-Hansen, J, Roden, D, Odening, K, Cerrone, M, Chinitz, L, Volders, P, van de Berg, M, Laurent, G, Faivre, L, Antzelevitch, C, Kääb, S, Al Arnaout, A, Dupuis, J, Pasquie, J, Billon, O, Roberts, J, Jesel, L, Borggrefe, M, Lambiase, P, Mansourati, J, Loeys, B, Leenhardt, A, Guicheney, P, Maury, P, Schulze-Bahr, E, Robyns, T, Breckpot, J, Babuty, D, Priori, S, Napolitano, C, Referral Center for inherited cardiac arrhythmia, N, de Asmundis, C, Brugada, P, Brugada, R, Arbelo, E, Brugada, J, Mabo, P, Behar, N, Giustetto, C, Sabater Molina, M, Gimeno, J, Hasdemir, C, Schwartz, P, Crotti, L, Mckeown, P, Sharma, S, Behr, E, Haissaguerre, M, Sacher, F, Rooryck, C, Tan, H, Remme, C, Postema, P, Delmar, M, Ellinor, P, Lubitz, S, Gourraud, J, Tanck, M, L. George Jr., A, Macrae, C, Burridge, P, Dina, C, Probst, V, Wilde, A, Schott, J, Redon &amp, R, Bezzina, C, Julien Barc, Rafik Tadros, Charlotte Glinge, David Y. Chiang, Mariam Jouni, Floriane Simonet, Sean J. Jurgens, Manon Baudic, Michele Nicastro, Franck Potet, Joost A. Offerhaus, Roddy Walsh, Seung Hoan Choi, Arie O. Verkerk, Yuka Mizusawa, Soraya Anys, Damien Minois, Marine Arnaud, Josselin Duchateau, Yanushi D. Wijeyeratne, Alison Muir, Michael Papadakis, Silvia Castelletti, Margherita Torchio, Cristina Gil Ortuño, Javier Lacunza, Daniela F. Giachino, Natascia Cerrato, Raphaël P. Martins, Oscar Campuzano, Sonia Van Dooren, Aurélie Thollet, Florence Kyndt, Andrea Mazzanti, Nicolas Clémenty, Arnaud Bisson, Anniek Corveleyn, Birgit Stallmeyer, Sven Dittmann, Johan Saenen, Antoine Noël, Shohreh Honarbakhsh, Boris Rudic, Halim Marzak, Matthew K. Rowe, Claire Federspiel, Sophie Le Page, Leslie Placide, Antoine Milhem, Hector Barajas-Martinez, Britt-Maria Beckmann, Ingrid P. Krapels, Johannes Steinfurt, Bo Gregers Winkel, Reza Jabbari, Moore B. Shoemaker, Bas J. Boukens, Doris Škorić-Milosavljević, Hennie Bikker, Federico Manevy, Peter Lichtner, Marta Ribasés, Thomas Meitinger, Martina Müller-Nurasyid, KORA-Study Group, Jan H. Veldink, Leonard H. van den Berg, Philip Van Damme, Daniele Cusi, Chiara Lanzani, Sidwell Rigade, Eric Charpentier, Estelle Baron, Stéphanie Bonnaud, Simon Lecointe, Audrey Donnart, Hervé Le Marec, Stéphanie Chatel, Matilde Karakachoff, Stéphane Bézieau, Barry London, Jacob Tfelt-Hansen, Dan Roden, Katja E. Odening, Marina Cerrone, Larry A. Chinitz, Paul G. Volders, Maarten P. van de Berg, Gabriel Laurent, Laurence Faivre, Charles Antzelevitch, Stefan Kääb, Alain Al Arnaout, Jean-Marc Dupuis, Jean-Luc Pasquie, Olivier Billon, Jason D. Roberts, Laurence Jesel, Martin Borggrefe, Pier D. Lambiase, Jacques Mansourati, Bart Loeys, Antoine Leenhardt, Pascale Guicheney, Philippe Maury, Eric Schulze-Bahr, Tomas Robyns, Jeroen Breckpot, Dominique Babuty, Silvia G. Priori, Carlo Napolitano, Nantes Referral Center for inherited cardiac arrhythmia, Carlo de Asmundis, Pedro Brugada, Ramon Brugada, Elena Arbelo, Josep Brugada, Philippe Mabo, Nathalie Behar, Carla Giustetto, Maria Sabater Molina, Juan R. Gimeno, Can Hasdemir, Peter J. Schwartz, Lia Crotti, Pascal P. McKeown, Sanjay Sharma, Elijah R. Behr, Michel Haissaguerre, Frédéric Sacher, Caroline Rooryck, Hanno L. Tan, Carol A. Remme, Pieter G. Postema, Mario Delmar, Patrick T. Ellinor, Steven A. Lubitz, Jean-Baptiste Gourraud, Michael W. Tanck, Alfred L. George Jr., Calum A. MacRae, Paul W. Burridge, Christian Dina, Vincent Probst, Arthur A. Wilde, Jean-Jacques Schott, Richard Redon &, Connie R. Bezzina, Julien Barc, Barc, J, Tadros, R, Glinge, C, Chiang, D, Jouni, M, Simonet, F, Jurgens, S, Baudic, M, Nicastro, M, Potet, F, Offerhaus, J, Walsh, R, Hoan Choi, S, Verkerk, A, Mizusawa, Y, Anys, S, Minois, D, Arnaud, M, Duchateau, J, Wijeyeratne, Y, Muir, A, Papadakis, M, Castelletti, S, Torchio, M, Gil Ortuño, C, Lacunza, J, Giachino, D, Cerrato, N, Martins, R, Campuzano, O, Van Dooren, S, Thollet, A, Kyndt, F, Mazzanti, A, Clémenty, N, Bisson, A, Corveleyn, A, Stallmeyer, B, Dittmann, S, Saenen, J, Noël, A, Honarbakhsh, S, Rudic, B, Marzak, H, Rowe, M, Federspiel, C, Le Page, S, Placide, L, Milhem, A, Barajas-Martinez, H, Beckmann, B, Krapels, I, Steinfurt, J, Gregers Winkel, B, Jabbari, R, Shoemaker, M, Boukens, B, Škorić-Milosavljević, D, Bikker, H, Manevy, F, Lichtner, P, Ribasés, M, Meitinger, T, Müller-Nurasyid, M, Group, K, Veldink, J, van den Berg, L, Van Damme, P, Cusi, D, Lanzani, C, Rigade, S, Charpentier, E, Baron, E, Bonnaud, S, Lecointe, S, Donnart, A, Le Marec, H, Chatel, S, Karakachoff, M, Bézieau, S, London, B, Tfelt-Hansen, J, Roden, D, Odening, K, Cerrone, M, Chinitz, L, Volders, P, van de Berg, M, Laurent, G, Faivre, L, Antzelevitch, C, Kääb, S, Al Arnaout, A, Dupuis, J, Pasquie, J, Billon, O, Roberts, J, Jesel, L, Borggrefe, M, Lambiase, P, Mansourati, J, Loeys, B, Leenhardt, A, Guicheney, P, Maury, P, Schulze-Bahr, E, Robyns, T, Breckpot, J, Babuty, D, Priori, S, Napolitano, C, Referral Center for inherited cardiac arrhythmia, N, de Asmundis, C, Brugada, P, Brugada, R, Arbelo, E, Brugada, J, Mabo, P, Behar, N, Giustetto, C, Sabater Molina, M, Gimeno, J, Hasdemir, C, Schwartz, P, Crotti, L, Mckeown, P, Sharma, S, Behr, E, Haissaguerre, M, Sacher, F, Rooryck, C, Tan, H, Remme, C, Postema, P, Delmar, M, Ellinor, P, Lubitz, S, Gourraud, J, Tanck, M, L. George Jr., A, Macrae, C, Burridge, P, Dina, C, Probst, V, Wilde, A, Schott, J, Redon &amp, R, Bezzina, C, Julien Barc, Rafik Tadros, Charlotte Glinge, David Y. Chiang, Mariam Jouni, Floriane Simonet, Sean J. Jurgens, Manon Baudic, Michele Nicastro, Franck Potet, Joost A. Offerhaus, Roddy Walsh, Seung Hoan Choi, Arie O. Verkerk, Yuka Mizusawa, Soraya Anys, Damien Minois, Marine Arnaud, Josselin Duchateau, Yanushi D. Wijeyeratne, Alison Muir, Michael Papadakis, Silvia Castelletti, Margherita Torchio, Cristina Gil Ortuño, Javier Lacunza, Daniela F. Giachino, Natascia Cerrato, Raphaël P. Martins, Oscar Campuzano, Sonia Van Dooren, Aurélie Thollet, Florence Kyndt, Andrea Mazzanti, Nicolas Clémenty, Arnaud Bisson, Anniek Corveleyn, Birgit Stallmeyer, Sven Dittmann, Johan Saenen, Antoine Noël, Shohreh Honarbakhsh, Boris Rudic, Halim Marzak, Matthew K. Rowe, Claire Federspiel, Sophie Le Page, Leslie Placide, Antoine Milhem, Hector Barajas-Martinez, Britt-Maria Beckmann, Ingrid P. Krapels, Johannes Steinfurt, Bo Gregers Winkel, Reza Jabbari, Moore B. Shoemaker, Bas J. Boukens, Doris Škorić-Milosavljević, Hennie Bikker, Federico Manevy, Peter Lichtner, Marta Ribasés, Thomas Meitinger, Martina Müller-Nurasyid, KORA-Study Group, Jan H. Veldink, Leonard H. van den Berg, Philip Van Damme, Daniele Cusi, Chiara Lanzani, Sidwell Rigade, Eric Charpentier, Estelle Baron, Stéphanie Bonnaud, Simon Lecointe, Audrey Donnart, Hervé Le Marec, Stéphanie Chatel, Matilde Karakachoff, Stéphane Bézieau, Barry London, Jacob Tfelt-Hansen, Dan Roden, Katja E. Odening, Marina Cerrone, Larry A. Chinitz, Paul G. Volders, Maarten P. van de Berg, Gabriel Laurent, Laurence Faivre, Charles Antzelevitch, Stefan Kääb, Alain Al Arnaout, Jean-Marc Dupuis, Jean-Luc Pasquie, Olivier Billon, Jason D. Roberts, Laurence Jesel, Martin Borggrefe, Pier D. Lambiase, Jacques Mansourati, Bart Loeys, Antoine Leenhardt, Pascale Guicheney, Philippe Maury, Eric Schulze-Bahr, Tomas Robyns, Jeroen Breckpot, Dominique Babuty, Silvia G. Priori, Carlo Napolitano, Nantes Referral Center for inherited cardiac arrhythmia, Carlo de Asmundis, Pedro Brugada, Ramon Brugada, Elena Arbelo, Josep Brugada, Philippe Mabo, Nathalie Behar, Carla Giustetto, Maria Sabater Molina, Juan R. Gimeno, Can Hasdemir, Peter J. Schwartz, Lia Crotti, Pascal P. McKeown, Sanjay Sharma, Elijah R. Behr, Michel Haissaguerre, Frédéric Sacher, Caroline Rooryck, Hanno L. Tan, Carol A. Remme, Pieter G. Postema, Mario Delmar, Patrick T. Ellinor, Steven A. Lubitz, Jean-Baptiste Gourraud, Michael W. Tanck, Alfred L. George Jr., Calum A. MacRae, Paul W. Burridge, Christian Dina, Vincent Probst, Arthur A. Wilde, Jean-Jacques Schott, Richard Redon &, and Connie R. Bezzina

Abstract

In the version of this article initially published, Federico Manevy’s name appeared with a middle initial in error. The name has been corrected in the HTML and PDF versions of the article.

Published
2022

43. Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

Author

Barc, J, Tadros, R, Glinge, C, Chiang, D, Jouni, M, Simonet, F, Jurgens, S, Baudic, M, Nicastro, M, Potet, F, Offerhaus, J, Walsh, R, Hoan Choi, S, Verkerk, A, Mizusawa, Y, Anys, S, Minois, D, Arnaud, M, Duchateau, J, Wijeyeratne, Y, Muir, A, Papadakis, M, Castelletti, S, Torchio, M, Gil Ortuño, C, Lacunza, J, Giachino, D, Cerrato, N, Martins, R, Campuzano, O, Van Dooren, S, Thollet, A, Kyndt, F, Mazzanti, A, Clémenty, N, Bisson, A, Corveleyn, A, Stallmeyer, B, Dittmann, S, Saenen, J, Noël, A, Honarbakhsh, S, Rudic, B, Marzak, H, Rowe, M, Federspiel, C, Le Page, S, Placide, L, Milhem, A, Barajas-Martinez, H, Beckmann, B, Krapels, I, Steinfurt, J, Gregers Winkel, B, Jabbari, R, Shoemaker, M, Boukens, B, Škorić-Milosavljević, D, Bikker, H, Manevy, F, Lichtner, P, Ribasés, M, Meitinger, T, Müller-Nurasyid, M, Group, K, Veldink, J, van den Berg, L, Van Damme, P, Cusi, D, Lanzani, C, Rigade, S, Charpentier, E, Baron, E, Bonnaud, S, Lecointe, S, Donnart, A, Le Marec, H, Chatel, S, Karakachoff, M, Bézieau, S, London, B, Tfelt-Hansen, J, Roden, D, Odening, K, Cerrone, M, Chinitz, L, Volders, P, van de Berg, M, Laurent, G, Faivre, L, Antzelevitch, C, Kääb, S, Al Arnaout, A, Dupuis, J, Pasquie, J, Billon, O, Roberts, J, Jesel, L, Borggrefe, M, Lambiase, P, Mansourati, J, Loeys, B, Leenhardt, A, Guicheney, P, Maury, P, Schulze-Bahr, E, Robyns, T, Breckpot, J, Babuty, D, Priori, S, Napolitano, C, Referral Center for inherited cardiac arrhythmia, N, de Asmundis, C, Brugada, P, Brugada, R, Arbelo, E, Brugada, J, Mabo, P, Behar, N, Giustetto, C, Sabater Molina, M, Gimeno, J, Hasdemir, C, Schwartz, P, Crotti, L, Mckeown, P, Sharma, S, Behr, E, Haissaguerre, M, Sacher, F, Rooryck, C, Tan, H, Remme, C, Postema, P, Delmar, M, Ellinor, P, Lubitz, S, Gourraud, J, Tanck, M, L. George Jr., A, Macrae, C, Burridge, P, Dina, C, Probst, V, Wilde, A, Schott, J, Redon &amp, R, Bezzina, C, Julien Barc, Rafik Tadros, Charlotte Glinge, David Y. Chiang, Mariam Jouni, Floriane Simonet, Sean J. Jurgens, Manon Baudic, Michele Nicastro, Franck Potet, Joost A. Offerhaus, Roddy Walsh, Seung Hoan Choi, Arie O. Verkerk, Yuka Mizusawa, Soraya Anys, Damien Minois, Marine Arnaud, Josselin Duchateau, Yanushi D. Wijeyeratne, Alison Muir, Michael Papadakis, Silvia Castelletti, Margherita Torchio, Cristina Gil Ortuño, Javier Lacunza, Daniela F. Giachino, Natascia Cerrato, Raphaël P. Martins, Oscar Campuzano, Sonia Van Dooren, Aurélie Thollet, Florence Kyndt, Andrea Mazzanti, Nicolas Clémenty, Arnaud Bisson, Anniek Corveleyn, Birgit Stallmeyer, Sven Dittmann, Johan Saenen, Antoine Noël, Shohreh Honarbakhsh, Boris Rudic, Halim Marzak, Matthew K. Rowe, Claire Federspiel, Sophie Le Page, Leslie Placide, Antoine Milhem, Hector Barajas-Martinez, Britt-Maria Beckmann, Ingrid P. Krapels, Johannes Steinfurt, Bo Gregers Winkel, Reza Jabbari, Moore B. Shoemaker, Bas J. Boukens, Doris Škorić-Milosavljević, Hennie Bikker, Federico Manevy, Peter Lichtner, Marta Ribasés, Thomas Meitinger, Martina Müller-Nurasyid, KORA-Study Group, Jan H. Veldink, Leonard H. van den Berg, Philip Van Damme, Daniele Cusi, Chiara Lanzani, Sidwell Rigade, Eric Charpentier, Estelle Baron, Stéphanie Bonnaud, Simon Lecointe, Audrey Donnart, Hervé Le Marec, Stéphanie Chatel, Matilde Karakachoff, Stéphane Bézieau, Barry London, Jacob Tfelt-Hansen, Dan Roden, Katja E. Odening, Marina Cerrone, Larry A. Chinitz, Paul G. Volders, Maarten P. van de Berg, Gabriel Laurent, Laurence Faivre, Charles Antzelevitch, Stefan Kääb, Alain Al Arnaout, Jean-Marc Dupuis, Jean-Luc Pasquie, Olivier Billon, Jason D. Roberts, Laurence Jesel, Martin Borggrefe, Pier D. Lambiase, Jacques Mansourati, Bart Loeys, Antoine Leenhardt, Pascale Guicheney, Philippe Maury, Eric Schulze-Bahr, Tomas Robyns, Jeroen Breckpot, Dominique Babuty, Silvia G. Priori, Carlo Napolitano, Nantes Referral Center for inherited cardiac arrhythmia, Carlo de Asmundis, Pedro Brugada, Ramon Brugada, Elena Arbelo, Josep Brugada, Philippe Mabo, Nathalie Behar, Carla Giustetto, Maria Sabater Molina, Juan R. Gimeno, Can Hasdemir, Peter J. Schwartz, Lia Crotti, Pascal P. McKeown, Sanjay Sharma, Elijah R. Behr, Michel Haissaguerre, Frédéric Sacher, Caroline Rooryck, Hanno L. Tan, Carol A. Remme, Pieter G. Postema, Mario Delmar, Patrick T. Ellinor, Steven A. Lubitz, Jean-Baptiste Gourraud, Michael W. Tanck, Alfred L. George Jr., Calum A. MacRae, Paul W. Burridge, Christian Dina, Vincent Probst, Arthur A. Wilde, Jean-Jacques Schott, Richard Redon &, Connie R. Bezzina, Barc, J, Tadros, R, Glinge, C, Chiang, D, Jouni, M, Simonet, F, Jurgens, S, Baudic, M, Nicastro, M, Potet, F, Offerhaus, J, Walsh, R, Hoan Choi, S, Verkerk, A, Mizusawa, Y, Anys, S, Minois, D, Arnaud, M, Duchateau, J, Wijeyeratne, Y, Muir, A, Papadakis, M, Castelletti, S, Torchio, M, Gil Ortuño, C, Lacunza, J, Giachino, D, Cerrato, N, Martins, R, Campuzano, O, Van Dooren, S, Thollet, A, Kyndt, F, Mazzanti, A, Clémenty, N, Bisson, A, Corveleyn, A, Stallmeyer, B, Dittmann, S, Saenen, J, Noël, A, Honarbakhsh, S, Rudic, B, Marzak, H, Rowe, M, Federspiel, C, Le Page, S, Placide, L, Milhem, A, Barajas-Martinez, H, Beckmann, B, Krapels, I, Steinfurt, J, Gregers Winkel, B, Jabbari, R, Shoemaker, M, Boukens, B, Škorić-Milosavljević, D, Bikker, H, Manevy, F, Lichtner, P, Ribasés, M, Meitinger, T, Müller-Nurasyid, M, Group, K, Veldink, J, van den Berg, L, Van Damme, P, Cusi, D, Lanzani, C, Rigade, S, Charpentier, E, Baron, E, Bonnaud, S, Lecointe, S, Donnart, A, Le Marec, H, Chatel, S, Karakachoff, M, Bézieau, S, London, B, Tfelt-Hansen, J, Roden, D, Odening, K, Cerrone, M, Chinitz, L, Volders, P, van de Berg, M, Laurent, G, Faivre, L, Antzelevitch, C, Kääb, S, Al Arnaout, A, Dupuis, J, Pasquie, J, Billon, O, Roberts, J, Jesel, L, Borggrefe, M, Lambiase, P, Mansourati, J, Loeys, B, Leenhardt, A, Guicheney, P, Maury, P, Schulze-Bahr, E, Robyns, T, Breckpot, J, Babuty, D, Priori, S, Napolitano, C, Referral Center for inherited cardiac arrhythmia, N, de Asmundis, C, Brugada, P, Brugada, R, Arbelo, E, Brugada, J, Mabo, P, Behar, N, Giustetto, C, Sabater Molina, M, Gimeno, J, Hasdemir, C, Schwartz, P, Crotti, L, Mckeown, P, Sharma, S, Behr, E, Haissaguerre, M, Sacher, F, Rooryck, C, Tan, H, Remme, C, Postema, P, Delmar, M, Ellinor, P, Lubitz, S, Gourraud, J, Tanck, M, L. George Jr., A, Macrae, C, Burridge, P, Dina, C, Probst, V, Wilde, A, Schott, J, Redon &amp, R, Bezzina, C, Julien Barc, Rafik Tadros, Charlotte Glinge, David Y. Chiang, Mariam Jouni, Floriane Simonet, Sean J. Jurgens, Manon Baudic, Michele Nicastro, Franck Potet, Joost A. Offerhaus, Roddy Walsh, Seung Hoan Choi, Arie O. Verkerk, Yuka Mizusawa, Soraya Anys, Damien Minois, Marine Arnaud, Josselin Duchateau, Yanushi D. Wijeyeratne, Alison Muir, Michael Papadakis, Silvia Castelletti, Margherita Torchio, Cristina Gil Ortuño, Javier Lacunza, Daniela F. Giachino, Natascia Cerrato, Raphaël P. Martins, Oscar Campuzano, Sonia Van Dooren, Aurélie Thollet, Florence Kyndt, Andrea Mazzanti, Nicolas Clémenty, Arnaud Bisson, Anniek Corveleyn, Birgit Stallmeyer, Sven Dittmann, Johan Saenen, Antoine Noël, Shohreh Honarbakhsh, Boris Rudic, Halim Marzak, Matthew K. Rowe, Claire Federspiel, Sophie Le Page, Leslie Placide, Antoine Milhem, Hector Barajas-Martinez, Britt-Maria Beckmann, Ingrid P. Krapels, Johannes Steinfurt, Bo Gregers Winkel, Reza Jabbari, Moore B. Shoemaker, Bas J. Boukens, Doris Škorić-Milosavljević, Hennie Bikker, Federico Manevy, Peter Lichtner, Marta Ribasés, Thomas Meitinger, Martina Müller-Nurasyid, KORA-Study Group, Jan H. Veldink, Leonard H. van den Berg, Philip Van Damme, Daniele Cusi, Chiara Lanzani, Sidwell Rigade, Eric Charpentier, Estelle Baron, Stéphanie Bonnaud, Simon Lecointe, Audrey Donnart, Hervé Le Marec, Stéphanie Chatel, Matilde Karakachoff, Stéphane Bézieau, Barry London, Jacob Tfelt-Hansen, Dan Roden, Katja E. Odening, Marina Cerrone, Larry A. Chinitz, Paul G. Volders, Maarten P. van de Berg, Gabriel Laurent, Laurence Faivre, Charles Antzelevitch, Stefan Kääb, Alain Al Arnaout, Jean-Marc Dupuis, Jean-Luc Pasquie, Olivier Billon, Jason D. Roberts, Laurence Jesel, Martin Borggrefe, Pier D. Lambiase, Jacques Mansourati, Bart Loeys, Antoine Leenhardt, Pascale Guicheney, Philippe Maury, Eric Schulze-Bahr, Tomas Robyns, Jeroen Breckpot, Dominique Babuty, Silvia G. Priori, Carlo Napolitano, Nantes Referral Center for inherited cardiac arrhythmia, Carlo de Asmundis, Pedro Brugada, Ramon Brugada, Elena Arbelo, Josep Brugada, Philippe Mabo, Nathalie Behar, Carla Giustetto, Maria Sabater Molina, Juan R. Gimeno, Can Hasdemir, Peter J. Schwartz, Lia Crotti, Pascal P. McKeown, Sanjay Sharma, Elijah R. Behr, Michel Haissaguerre, Frédéric Sacher, Caroline Rooryck, Hanno L. Tan, Carol A. Remme, Pieter G. Postema, Mario Delmar, Patrick T. Ellinor, Steven A. Lubitz, Jean-Baptiste Gourraud, Michael W. Tanck, Alfred L. George Jr., Calum A. MacRae, Paul W. Burridge, Christian Dina, Vincent Probst, Arthur A. Wilde, Jean-Jacques Schott, Richard Redon &, and Connie R. Bezzina

Abstract

Brugada syndrome (BrS) is a cardiac arrhythmia disorder associated with sudden death in young adults. With the exception of SCN5A, encoding the cardiac sodium channel NaV1.5, susceptibility genes remain largely unknown. Here we performed a genome-wide association meta-analysis comprising 2,820 unrelated cases with BrS and 10,001 controls, and identified 21 association signals at 12 loci (10 new). Single nucleotide polymorphism (SNP)-heritability estimates indicate a strong polygenic influence. Polygenic risk score analyses based on the 21 susceptibility variants demonstrate varying cumulative contribution of common risk alleles among different patient subgroups, as well as genetic associations with cardiac electrical traits and disorders in the general population. The predominance of cardiac transcription factor loci indicates that transcriptional regulation is a key feature of BrS pathogenesis. Furthermore, functional studies conducted on MAPRE2, encoding the microtubule plus-end binding protein EB2, point to microtubule-related trafficking effects on NaV1.5 expression as a new underlying molecular mechanism. Taken together, these findings broaden our understanding of the genetic architecture of BrS and provide new insights into its molecular underpinnings.

Published
2022

44. Indications and utility of cardiac genetic testing in athletes

Author

Castelletti, S, Gray, B, Basso, C, R Behr, E, Crotti, L, M Elliott, P, M Gonzalez Corcia, C, D'Ascenzi, F, Ingles, J, Loeys, B, Pantazis, A, E Pieles, G, Saenen, J, Sarquella Brugada, G, Sanz de la Garza, M, Sharma, S, M Van Craenebroek, E, Wilde, A, Papadakis, M, Silvia Castelletti, Belinda Gray, Cristina Basso, Elijah R Behr, Lia Crotti, Perry M Elliott, Cecilia M Gonzalez Corcia, Flavio D'Ascenzi, Jodie Ingles, Bart Loeys, Antonis Pantazis, Guido E Pieles, Johan Saenen, Georgia Sarquella Brugada, Maria Sanz de la Garza, Sanjay Sharma, Emeline M Van Craenebroek, Arthur Wilde, Michael Papadakis, Castelletti, S, Gray, B, Basso, C, R Behr, E, Crotti, L, M Elliott, P, M Gonzalez Corcia, C, D'Ascenzi, F, Ingles, J, Loeys, B, Pantazis, A, E Pieles, G, Saenen, J, Sarquella Brugada, G, Sanz de la Garza, M, Sharma, S, M Van Craenebroek, E, Wilde, A, Papadakis, M, Silvia Castelletti, Belinda Gray, Cristina Basso, Elijah R Behr, Lia Crotti, Perry M Elliott, Cecilia M Gonzalez Corcia, Flavio D'Ascenzi, Jodie Ingles, Bart Loeys, Antonis Pantazis, Guido E Pieles, Johan Saenen, Georgia Sarquella Brugada, Maria Sanz de la Garza, Sanjay Sharma, Emeline M Van Craenebroek, Arthur Wilde, and Michael Papadakis

Abstract

Sports Cardiology practice commonly involves the evaluation of athletes for genetically determined cardiac conditions that may predispose to malignant arrhythmias, heart failure, and sudden cardiac death. High-level exercise can lead to electrical and structural cardiac remodelling which mimics inherited cardiac conditions (ICCs). Differentiation between 'athlete's heart' and pathology can be challenging and often requires the whole armamentarium of available investigations. Genetic studies over the last 30 years have identified many of the genetic variants that underpin ICCs and technological advances have transformed genetic testing to a more readily available and affordable clinical tool which may aid diagnosis, management, and prognosis. The role of genetic testing in the evaluation and management of athletes with suspected cardiac conditions is often unclear beyond the context of specialist cardio-genetics centres. This document is aimed at physicians, nurses, and allied health professionals involved in the athlete's care. With the expanding role and availability of genetic testing in mind, this document was created to address the needs of the broader sports cardiology community, most of whom work outside specialized cardio-genetics centres, when faced with the evaluation and management of athletes with suspected ICC. The first part of the document provides an overview of basic terminology and principles and offers guidance on the appropriate use of genetic testing in the assessment of such athletes. It outlines key considerations when contemplating genetic testing, highlighting the potential benefits and pitfalls, and offers a roadmap to genetic testing. The second part of the document presents common clinical scenarios in Sports Cardiology practice, outlining the diagnostic, prognostic, and therapeutic implications of genetic testing, including impact on exercise recommendations. The scope of this document does not extend to a comprehensive description of the

Published
2022

45. Development of a Risk Prediction Score for Occult Cancer in Patients With VTE

Author

Jara-Palomares, Luis, Otero, Remedios, Jimenez, David, Carrier, Marc, Tzoran, Inna, Brenner, Benjamin, Margeli, Mireia, Praena-Fernandez, Juan Manuel, Grandone, Elvira, Monreal, Manuel, Monreal, Manuel, Decousus, Hervè, Prandoni, Paolo, Brenner, Benjamin, Barba, Raquel, Di Micco, Pierpaolo, Bertoletti, Laurent, Tzoran, Inna, Reis, Abilio, Bosevski, Marijan, Bounameaux, Henri, Malý, Radovan, Wells, Philip, Papadakis, Manolis, Aibar, M. A., Alfonso, M., Asensio-Cruz, M. I., Auguet, T., Arcelus, J. I., Barba, R., Barrón, M., Barrón-Andrés, B., Bascuñana, J., Blanco-Molina, A., Bueso, T., Cañas, I., Ceausu, A., Chic, N., Culla, A., del Pozo, R., del Toro, J., Díaz-Pedroche, M. C., Díaz-Peromingo, J. A., Duffort, M., Elias-Hernández, T., Falgá, C., Fernández-Aracil, C., Fernández-Capitán, C., Fidalgo, M. A., Font, C., Font, L., Gallego, P., García, M. A., García-Bragado, F., García-Rodenas, M., Gómez, V., González, J., Grau, E., Grimón, A., Guijarro, R., Guirado, L., Gutiérrez, J., Hernández-Comes, G., Hernández-Blasco, L., Hernando-López, E., Jara-Palomares, L., Jaras, M. J., Jiménez, D., Joya, M. D., Llamas, P., Lecumberri, R., Lobo, J. L., López-Jiménez, L., López-Reyes, R., López-Sáez, J. B., Lorente, M. A., Lorenzo, A., Maestre, A., Marchena, P. J., Martín, M., Martín-Martos, F., Monreal, M., Nieto, J. A., Nieto, S., Núñez, A., Núñez, M. J., Odriozola, M., Otalora, S., Otero, R., Ovejero, A., Pedrajas, J. M., Pérez, G., Pérez-Ductor, C., Peris, M. L., Porras, J. A., Reig, O., Riera-Mestre, A., Riesco, D., Rivas, A., Rodríguez-Dávila, M. A., Rosa, V., Ruiz-Artacho, P., Ruiz-Giménez, N., Sahuquillo, J. C., Sala-Sainz, M. C., Sampériz, A., Sánchez, R., Sanz, O., Soler, S., Sopeña, B., Suriñach, J. M., Tolosa, C., Trujillo-Santos, J., Uresandi, F., Valero, B., Valle, R., Vela, J., Vicente, P., Vidal, G., Villalobos, A., Villalta, J., Vanassche, T., Verhamme, P., Wells, P., Hirmerova, J., Malý, R., Salgado, E., Bertoletti, L., Bura-Riviere, A., Farge-Bancel, D., Hij, A., Mahé, I., Merah, A., Moustafa, F., Papadakis, M., Braester, A., Brenner, B., Tzoran, I., Antonucci, G., Barillari, G., Bertone, A., Bilora, F., Bortoluzzi, C., Ciammaichella, M., Di Girolamo, C., Di Micco, P., Duce, R., Ferrazzi, P., Giorgi-Pierfranceschi, M., Grandone, E., Lodigiani, C., Maida, R., Mastroiacovo, D., Pace, F., Pesavento, R., Pinelli, M., Poggio, R., Prandoni, P., Rota, L., Tiraferri, E., Tonello, D., Tufano, A., Visonà, A., Zalunardo, B., Drucka, E., Kigitovica, D., Skride, A., Sousa, M. S., Bosevski, M., Zdraveska, M., Bounameaux, H., and Mazzolai, L.

Published
2017
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47. Pregnancy and childbirth in a woman with homozygous factor V Leiden mutation and thrombosis due to hormonal contraception in a history

Author

Khizroeva D.Kh. Khizroeva, Kapanadze D.L. Kapanadze, Makatsaria N.A. Makatsaria, Khamani N.M. Khamani, Hemostasis, Tbilisi, Georgia, Bitsadze V.O. Bitsadze, Kaplina O.Yu. Kaplina, Papadakis M. Papadakis M, and Makatsaria A.D. Makatsaria

Subjects
medicine.medical_specialty, Pregnancy, business.industry, Obstetrics, Homozygous Factor V Leiden mutation, Hormonal contraception, Medicine, Childbirth, General Medicine, business, medicine.disease, Thrombosis
Published
2019

48. Prevalence and outcomes of WPW pattern in the young: a report from a nationwide cardiac screening programme

Author

Maclachlan, H, primary, Castelletti, S, additional, Bhatia, R, additional, Chatrath, N, additional, Fyazz, S, additional, Marwaha, S, additional, Thurdnampetch, K, additional, Gilchrist, J, additional, Adil, S, additional, Chang, V, additional, Basu, J, additional, Miles, C, additional, Sharma, S, additional, and Papadakis, M, additional

Published
2022
Full Text
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50. Glycemic control and atrial fibrillation: an intricate relationship, yet under investigation

Author

Papazoglou, A.S. Kartas, A. Moysidis, D.V. Tsagkaris, C. Papadakos, S.P. Bekiaridou, A. Samaras, A. Karagiannidis, E. Papadakis, M. Giannakoulas, G.

Abstract

Atrial fibrillation (AF) and diabetes mellitus (DM) constitute two major closely inter-related chronic cardiovascular disorders whose concurrent prevalence rates are steadily increasing. Although, the pathogenic mechanisms behind the AF and DM comorbidity are still vague, it is now clear that DM precipitates AF occurrence. DM also affects the clinical course of established AF; it is associated with significant increase in the incidence of stroke, AF recurrence, and cardiovascular mortality. The impact of DM on AF management and prognosis has been adequately investigated. However, evidence on the relative impact of glycemic control using glycated hemoglobin levels is scarce. This review assesses up-to-date literature on the association between DM and AF. It also highlights the usefulness of glycated hemoglobin measurement for the prediction of AF and AF-related adverse events. Additionally, this review evaluates current anti-hyperglycemic treatment in the context of AF, and discusses AF-related decision-making in comorbid DM. Finally, it quotes significant remaining questions and sets some future strategies with the potential to effectively deal with this prevalent comorbidity. © 2022, The Author(s).

Published
2022

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