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1. Cohort of patients with hypertrophic cardiomyopathy and alpha tropomyosin 1 variants followed up at a national reference center

Author

R Alvarez Garcia-Roves, M A Espinosa Castro, A I Fernandez, I Mendez Fernandez, M Centeno Jimenez, M Lopez Blazquez, N Vazquez Aguilera, C Relano Garcia, C Medrano Lopez, and J Bermejo Thomas

Subjects
Cardiology and Cardiovascular Medicine
Abstract

Background Hypertrophic cardiomyopathy (HCM), the most common inherited cardiac condition, is mainly caused by pathogenic variants in sarcomeric genes. Alpha tropomyosin gene (TPM1) account for a small percentage (1–5%) of HCM cases with ∼20 relevant variants described so far related to this condition. However, TPM1–hypertrophic cardiomyopathy is thought to be associated with high rates of heart failure and sudden death (SD). Purpose To describe the phenotype and genotype of a cohort of adult and pediatric patients with HCM and variants in TPM1 followed up in an inherited cardiovascular disease program of a national reference center. Methods Patients with HCM and TPM1 variants potentially related to the phenotype were retrospectively identified. Genetic test was performed by next generation sequencing panels or clinical exome. Clinical data, any need of intervention (obstruction relief, device implantation, heart transplant) and major adverse cardiovascular events were collected from medical records. We performed co-segregation studies whenever possible. Predictive models in order to support the possible pathogenicity of the variants were also applied. Results We identified 13 individuals (54% females) from 11 families with HCM and variants in TPM1. 12 patients had phenotype and one was a carrier. 5 out of 12 patients (42%) were diagnosed before the age of 12 years, all with severe phenotype. The most frequent pattern was asymmetric septal hypertrophy, with a mean thickness of the septum of 22 mm (range 14–37). 4 cases were obstructive, of which 3 required surgical myectomy. 4 patients required an implanted cardiac defibrillator (ICD), all in childhood. One was in secondary prevention after an aborted SD in a 12-year-old girl. 3 appropriate therapies were recorded in 2 patients during follow-up. A girl underwent heart transplantation at the age of 12 because of angina at rest. At last evaluation 67% were symptomatic, with 3 patients in functional class II and 5 patients in functional class III-IV/IV. 8 missense variants in TPM1 were identified in the 11 families (table 1). All variants are described in Clinvar as variants of unknown significance (VUS). They appear at a very low frequency ( Conclusion This study provides cosegregation data and “in silico” analysis of the potential functional impact of several TPM1 variants, supporting their pathogenicity. In our cohort, HCM related to TMP1 variants is associated with high penetrance (92%), early onset and poor clinical course in childhood and youth. Funding Acknowledgement Type of funding sources: None. Figure 1

Published
2021
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2. Poster Session 2: Thursday 8 December 2011, 14:00-18:00 * Location: Poster Area

Author

X. Luo, F. Fang, J. Sun, J. Xie, A. Lee, Q. Zhang, C. Yu, O. Breithardt, S. Schiessl, M. Schmid, M. Seltmann, L. Klinghammer, C. Zeissler, M. Kuechle, W. Daniel, M. Ege, U. Guray, Y. Guray, B. Demirkan, H. Kisacik, S.-E. Kim, J.-Y. Hong, J.-H. Lee, D.-G. Park, K.-R. Han, D.-J. Oh, O. Tufekcioglu, D. C. Cozma, C. Mornos, A. Ionac, L. Petrescu, C. Tutuianu, S. I. Dragulescu, L. Guimaraes, G. Tavares, A. Rodrigues, C. Nagamatsu, C. Fischer, M. Vieira, W. Oliveira, T. Wilberg, A. Cordovil, S. Morhy, D. Muraru, M. Peluso, L. Dal Bianco, M. Beraldo, E. Solda', M. Tuveri, U. Cucchini, A. Al Mamary, L. Badano, S. Iliceto, A. Pizzuti, B. Mabritto, C. Derosa, A. Tomasello, M. Rovere, I. Parrini, M. Conte, N. Lareva, A. Govorin, R. Cooper, J. Sharif, J. D. Somauroo, J. D. Hung, V. Porcelli, R. Skevington, A. Shahzad, S. Scott, P. Lindqvist, S. Soderberg, M. Gonzalez, E. Tossavainen, M. Henein, N. Nciri, H. Saad, S. Nawas, A. Ali, A. Youssufzay, A. Safi, S. Faruk, S. Yurdakul, V. Erdemir, Y. Tayyareci, O. Yildirimturk, K. Memic, V. Aytekin, M. Gurel, S. Aytekin, M. Przewlocka-Kosmala, M. Cielecka-Prynda, A. Mysiak, W. Kosmala, S. Pescariu, D. Cozma, A. Mornos, S. Dragulescu, N. Maurea, C. G. Tocchetti, C. Coppola, C. Quintavalle, D. Rea, A. Barbieri, G. Piscopo, C. Arra, G. Condorelli, R. Iaffaioli, H. Dalen, A. Thorstensen, H. Moelmen, H. Torp, A. Stoylen, D. Augustine, C. Basagiannis, J. Suttie, P. Cox, R. Aitzaz, A. Lewandowski, M. Lazdam, C. Holloway, H. Becher, P. Leeson, S. Radovanovic, A. Djokovic, B. Todic, M. Zdravkovic, M. Zaja-Simic, S. Banicevic, D. Lisulov-Popovic, M. Krotin, J. Grapsa, D. O'regan, D. Dawson, G. Durighel, L. Howard, J. Gibbs, P. Nihoyannopoulos, C. Tulunay Kaya, M. Kilickap, H. Kurklu, N. Ozbek, C. Koca, V. Kozluca, K. Esenboga, C. Erol, B. Kusmierczyk-Droszcz, E. Kowalik, J. Niewiadomska, P. Hoffman, M. Satendra, L. Sargento, S. Lopes, S. Longo, N. Lousada, R. Palma Reis, P. Chillo, A. Rieck, J. Lwakatare, J. Lutale, E. Gerdts, S. Bonapace, G. Molon, G. Targher, A. Rossi, L. Lanzoni, G. Canali, E. Campopiano, L. Zenari, L. Bertolini, E. Barbieri, K. Hristova, L. Vladiomirova-Kitova, T. Katova, F. Nikolov, P. Nikolov, S. Georgieva, I. Simova, V. Kostova, V. A. Kuznetsov, D. V. Krinochkin, P. A. Chandraratna, Y. A. Pak, E. H. Zakharova, A. V. Plusnin, M. V. Semukhin, E. A. Gorbatenko, E. I. Yaroslavskaya, G. Bedetti, L. Gargani, M. Scalese, C. Pizzi, R. Sicari, E. Picano, M. Reali, E. Canali, S. Cimino, M. Francone, M. Mancone, R. Scardala, F. Boccalini, Y. Hiramoto, A. Frustaci, L. Agati, K. Savino, A. Lilli, E. Bordoni, C. Riccini, G. Ambrosio, D. Silva, N. Cortez-Dias, P. Carrilho-Ferreira, C. Jorge, J. Silva-Marques, A. Magalhaes, L. Santos, S. Ribeiro, F. Pinto, A. Nunes Diogo, E. Kinova, N. Zlatareva, A. Goudev, C. Bonanad, M. Lopez-Lereu, J. Monmeneu, V. Bodi, J. Sanchis, J. Nunez, F. Chaustre, A. Llacer, D. Ermacora, D. Peluso, M. Di Lazzari, P. Meimoun, F. Elmkies, T. Benali, J. Boulanger, H. Zemir, J. Clerc, A. Luycx-Bore, M. S. Velasco Del Castillo, A. Cacicedo Fernandez De Bobadilla, J. Onaindia Gandarias, M. Telleria Arrieta, G. Zugazabeitia Irazabal, O. Quintana Raczka, I. Rodriguez Sanchez, A. Romero Pereiro, E. Laraudogoitia Zaldumbide, I. Lekuona Goya, B. Bonello, E. El Louali, V. Fouilloux, I. Kammache, C. Ovaert, B. Kreitmann, A. Fraisse, R. Migliore, M. Adaniya, M. Barranco, G. Miramont, H. Tamagusuku, A. Alassar, R. Sharma, A. Marciniak, O. Valencia, N. Abdulkareem, M. Jahangiri, N. Jander, R. Kienzle, C. Gohlke-Baerwolf, H. Gohlke, F.-J. Neumann, J. Minners, S. Valbuena, F. De Torres, T. Lopez, J. J. Gomez, G. Guzman, F. Dominguez, E. Refoyo, M. Moreno, J. L. Lopez-Sendon, R. Ancona, S. Comenale Pinto, P. Caso, G. Di Salvo, S. Severino, M. Cavallaro, R. Calabro, R. Enache, R. Piazza, A. Roman-Pognuz, B. Popescu, A. Calin, C. Beladan, F. Purcarea, G. Nicolosi, C. Ginghina, O. Savu, M. Rosca, R. Jurcut, M. Serban, L. Dorobantu, E. Donal, S. Mascle, C. Thebault, D. Veillard, H. Hamonic, A. Leguerrier, H. Corbineau, B. A. Popa, M. Diena, A. Bogdan, D. Benea, G. Lanzillo, V. Casati, E. Novelli, A. Popa, G. Cerin, F. Gual Capllonch, A. Teis, J. Lopez Ayerbe, E. Ferrer, N. Vallejo, E. Gomez Denia, A. Bayes Genis, S. Spethmann, S. Schattke, G. Baldenhofer, V. Stangl, M. Laule, G. Baumann, K. Stangl, F. Knebel, C. Labata, C. Garcia Alonso, F. Gual, R. Nunez Aragon, C. Sousa, A. I. Vasile, M. Dorobantu, C. Iorgulescu, S. Bogdan, D. Constantinescu, C. Caldararu, O. Tautu, R. Vatasescu, H. Badran, M. F. Elnoamany, M. Ayad, A. Elshereef, A. Farhan, Y. Nassar, M. Yacoub, J. Costabel, G. Avegliano, P. Elissamburu, J. Thierer, F. Castro, M. Huguet, A. Frangi, R. Ronderos, C. Prinz, F. Van Buuren, L. Faber, T. Bitter, N. Bogunovic, W. Burchert, D. Horstkotte, J. D. Kasprzak, A. Smialowski, T. Rudzinski, P. Lipiec, M. Krzeminska-Pakula, K. Wierzbowska-Drabik, E. Trzos, M. Kurpesa, H. Motoki, M. Hana, T. Marwick, K. Allan, M. Vazquez-Alvarez, C. Medrano Lopez, S. Granja Da Silva, C. Marcos, A. Rodriguez-Ogando, M. Alvarez, M. Camino, M. Centeno, E. Maroto, G. Feltes Guzman, V. Serra Tomas, O. Acevedo, A. Calli, M. Barba, G. Pintos, V. Valverde, J. Zamorano Gomez, M. Marchel, J. Kochanowski, R. Piatkowski, A. Madej, K. Filipiak, I. Hausmanowa-Petrusewicz, G. Opolski, E. Malev, E. Zemtsovsky, S. Reeva, E. Timofeev, A. Pshepiy, S. Mihaila, R. Rimbas, R. Mincu, R. Dulgheru, R. Mihaila, C. Badiu, M. Cinteza, D. Vinereanu, E. Lira, D. Lebihan, C. Monaco, M. Ruiz Ortiz, D. Mesa, M. Delgado, E. Romo, M. Pena, M. Puentes, M. Santisteban, A. Lopez Granados, J. Arizon Del Prado, J. Suarez De Lezo, W.-C. Tsai, J.-Y. Shih, T.-S. Huang, Y.-W. Liu, Y.-Y. Huang, L.-M. Tsai, E. Cho, K. Choi, B. Kwon, D. Kim, S. Jang, C. Park, H. Jung, H. Jeon, H. Youn, J. Kim, A. E. Rieck, D. Cramariuc, M. Lonnebakken, B. Lund, P. Moceri, D. Doyen, P. Cerboni, E. Ferrari, W. Li, S. Goncalves, G. Vinhais De Sousa, A. G. Almeida, C. Hernandez Garcia, A. De La Rosa Hernandez, E. Arroyo Ucar, P. Jorge Perez, A. Barragan Acea, J. Lacalzada Almeida, J. Jimenez Rivera, A. Duque Garcia, I. Laynez Cerdena, O. Arhipov, A. N. Sumin, L. Campens, M. Renard, B. Trachet, P. Segers, A. De Paepe, J. De Backer, J. A. Purvis, D. Sharma, S. M. Hughes, D. Marek, D. Vindis, E. Kocianova, M. Taborsky, H. Yoon, K. Kim, Y. Ahn, M. Chung, J. Cho, J. Kang, W. Rha, O. Ozcan, D. Sezgin Ozcan, B. Candemir, M. Aras, I. Dincer, R. Atak, L. Gianturco, M. Turiel, F. Atzeni, L. Tomasoni, E. Bruschi, O. Epis, P. Sarzi-Puttini, C. Aggeli, E. Poulidakis, I. Felekos, S. Sideris, P. Dilaveris, K. Gatzoulis, C. Stefanadis, N. Roszczyk, M. Sobczak, J. Peruga, R. Krecki, J. Kasprzak, K. Ishii, T. Suyama, K. Kataoka, A. Furukawa, T. Nagai, M. Maenaka, Y. Seino, F. Musca, B. De Chiara, A. Moreo, S. Cataldo, M. Parolini, O. Parodi, T. Bombardini, F. Faita, S.-J. Park, J.-H. Kil, S.-J. Kim, S.-Y. Jang, S.-A. Chang, J.-O. Choi, S.-C. Lee, S. Park, P. Park, J. Oh, M. Cikes, V. Velagic, B. Biocina, H. Gasparovic, Z. Djuric, B. Bijnens, D. Milicic, A. Huqi, B. Klas, A. He, I. Paterson, M. Irween, J. Ezekovitz, J. Choy, Y. Chen, L. Cheng, R. Yao, H. Yao, H. Chen, C. Pan, X. Shu, B. Sobkowicz, M. Kaminska, W. Musial, R. Buechel, G. Sommer, G. Leibundgut, A. Rohner, J. Bremerich, B. Kaufmann, A. Kessel-Schaefer, M. Handke, A. Kiotsekoglou, S. Saha, R. Toole, S. Sharma, A. Gopal, S. Adhya, W. Tsang, C. Kenny, S. Kapetanakis, R. Lang, M. Monaghan, B. Smith, T. Coulter, A. Rendon, W.-S. Cheung, W. Gorissen, J. A. Ejlersen, O. May, F. J. Van Slochteren, T. Van Der Spoel, H. Hanssen, P. Doevendans, S. Chamuleau, C. De Korte, A. Tarr, S. Stoebe, T. Trache, J.-G. Kluge, A. Varga, A. Hagendorff, A. Nagy, A. Kovacs, A. Apor, B. Sax, D. Becker, B. Merkely, R. Lindquist, A. Miller, C. Reece, B. W. Eidem, W.-G. Choi, S. Kim, S. Oh, Y. Kim, R. Iacobelli, M. Chinali, M. D' Asaro, A. Toscano, A. Del Pasqua, C. Esposito, G. Seghetti, F. Parisi, G. Pongiglione, G. Rinelli, O. Omaygenc, R. Bakal, C. Dogan, K. Teber, S. Akpinar, G. Sahin, N. Ozdemir, A. Penhall, M. Joseph, F. Chong, C. De Pasquale, J. Selvanayagam, D. Leong, E. G. Nyktari, A. P. Patrianakos, C. Goudis, G. Solidakis, F. Parthenakis, P. Vardas, E. Nestaas, D. Fugelseth, A. Vitarelli, L. Capotosto, M. Bernardi, Y. Conde, F. Caranci, G. Placanica, O. Dettori, M. Vitarelli, S. De Chiara, V. De Cicco, M. Ferro', R. Calabro', S. Apostolakis, G. Chalikias, D. Tziakas, D. Stakos, A. Thomaidi, S. Konstantinides, G. Iorio, R. Rucos, G. Continanza, M. D Ascanio, L. Alessandroni, M. Saponara, M. Berry, J. Nahum, O. Zaghden, J. Monin, J. Couetil, O. Lairez, L. Macron, J. Dubois Rande, P. Gueret, P. Lim, M. Cameli, E. Giacomin, M. Lisi, S. Benincasa, F. Righini, D. Menci, M. Focardi, S. Mondillo, E. Philip, G. Gorincour, H. Bellsham-Revell, A. J. Bell, O. I. Miller, P. Beerbaum, R. Razavi, G. Greil, J. M. Simpson, S. Ann, T. Kim, J. Lee, J. Chin, P. Cabeza Lainez, V. Escolar Camas, L. Gheorghe, P. Fernandez Garcia, R. Vazquez Garcia, V. Caiulo, S. Caiulo, A. Fisicaro, F. Moramarco, G. Latini, A. Seale, J. Carvalho, H. Gardiner, M. Roughton, J. Simpson, A. Tometzki, O. Uzun, S. Webber, P. Daubeney, A. Dawood, G. Dwivedi, G. Mahadevan, D. Jiminez, R. Steeds, M. Frenneaux, C. H. Attenhofer Jost, B. Knechtle, A. Bernheim, M. Pfyffer, A. Linka, A. Faeh-Gunz, B. Seifert, G. De Pasquale, M. Zuber, A. Tomaszewski, A. Kutarski, and M. Tomaszewski

Subjects
Computer science, Plane (geometry), business.industry, Echo (computing), Left atrium, General Medicine, Biplane, medicine.anatomical_structure, Software, Left atrial, medicine, Radiology, Nuclear Medicine and imaging, Cardiology and Cardiovascular Medicine, business, Nuclear medicine
Published
2011
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3. Poster session II * Thursday 9 December 2010, 14:00-18:00

Author

P. A. Pabari, A. Kyriacou, M. Moraldo, B. Unsworth, R. Baruah, N. Sutaria, A. Hughes, J. Mayet, D. P. Francis, T. Uejima, K. Loboz, F. Antonini-Canterin, C. Polombo, S. Carerj, D. Vinereanu, A. Evangelista, G. Leftheriotis, A. G. Fraser, A. Kiotsekoglou, M. Govindan, S. C. Govind, S. K. Saha, A. J. Camm, P. M. Azcarate, S. Castano, M. Rodriguez-Manero, M. Arraiza, B. Levy, J. Barba, G. Rabago, G. Bastarrika, A. Nemes, R. Takacs, T. Varkonyi, H. Gavaller, I. Baczko, T. Forster, T. Wittmann, J. G. Papp, C. Lengyel, A. Varro, L. R. Tumasyan, K. G. Adamyan, O. Savu, T. Mieghem, P. Dekoninck, L. Gucciardo, R. Jurcut, S. Giusca, B. A. Popescu, C. Ginghina, J. Deprest, J. U. Voigt, M. Versiero, M. Galderisi, R. Esposito, A. Rapacciuolo, G. Esposito, R. Raia, T. Morgillo, F. Piscione, G. De Simone, M. A. Oraby, F. A. Maklady, E. M. Mohamed, A. Z. Eraki, D. Zaliaduonyte-Peksiene, E. Tamuleviciute, J. Janenaite, J. Marcinkeviciene, V. Mizariene, S. Bucyte, J. Vaskelyte, D. Trifunovic, I. Nedeljkovic, D. Popovic, M. Ostojic, B. Vujisic-Tesic, M. Petrovic, S. Stankovic, D. Sobic-Saranovic, M. Banovic, A. Dikic-Djordjevic, K. Savino, A. Lilli, E. Grikstaite, V. Giglio, E. Bordoni, G. Maragoni, C. Cavallini, G. Ambrosio, B. Jakovljevic, B. Beleslin, M. Nedeljkovic, O. Petrovic, S. Moral, J. Rodriguez-Palomares, M. Descalzo, G. Marti, V. Pineda, P. Mahia, L. Gutierrez, T. Gonzalez-Alujas, D. Garcia-Dorado, F. Schnell, E. Donal, C. Thebault, A. Bernard, H. Corbineau, H. Le Breton, J. Kochanowski, P. Scislo, R. Piatkowski, M. Roik, M. Marchel, D. Kosior, G. Opolski, A. M. Lesniak-Sobelga, E. Wicher-Muniak, M. Kostkiewicz, M. Olszowska, E. Suchon, P. Klimeczek, P. Banys, M. Pasowicz, W. Tracz, P. Podolec, A. Laynez, D. E. Hoefsten, B. B. Loegstrup, B. Norager, J. E. Moller, A. Flyvbjerg, K. Egstrup, W. Streb, M. Szulik, J. Nowak, E. Markowicz-Pawlus, A. Duszanska, A. Sedkowska, Z. Kalarus, T. Kukulski, L. Spinelli, C. Morisco, E. Assante Di Panzillo, F. Buono, S. Crispo, B. Trimarco, A. A. Hawary, G. M. Nasr, M. M. Fawzy, L. Faber, W. Scholtz, J. Boergermann, M. Wiemer, G. Kleikamp, N. Bogunovic, Z. Dimitriadis, J. Gummert, D. Hering, D. Horstkotte, F. Luca', S. Gelsomino, R. Lorusso, S. Caciolli, R. Carella, G. Bille', G. De Cicco, V. Pazzagli, G. F. Gensini, A. Borowiec, R. Dabrowski, J. Janas, A. Kraska, B. Firek, I. Kowalik, H. Szwed, K. A. Marcus, C. L. De Korte, T. Feuth, J. M. Thijssen, L. Kapusta, J. Dahl, L. Videbaek, M. K. Poulsen, P. A. Pellikka, K. Veien, L. I. Andersen, T. Haghfelt, M. Haberka, K. Mizia - Stec, T. Adamczyk, M. Mizia, A. Chmiel, P. Pysz, M. Sosnowski, Z. Gasior, M. Trusz - Gluza, M. Tendera, T. Niklewski, K. Wilczek, P. Chodor, T. Podolecki, A. Frycz-Kurek, M. Zembala, S. Yurdakul, O. Yildirimturk, Y. Tayyareci, K. Memic, I. C. C. Demiroglu, S. Aytekin, C. J. Garcia Alonso, E. Ferrer Sistach, L. Delgado, J. Lopez Ayerbe, N. Vallejo Camazon, F. Gual Capllonch, M. Espriu Simon, X. Ruyra, A. Caballero Parrilla, A. Bayes Genis, L. Lecuyer, A. Berrebi, E. Florens, M. Noghin, C. Huerre, P. Achouh, R. Zegdi, J. N. Fabiani, B. De Chiara, A. Moreo, F. Musca, F. De Marco, E. Lobiati, O. Belli, F. Mauri, S. Klugmann, A. Caballero, N. Vallejo, A. Gonzalez Guardia, R. Nunez Aragon, C. Bosch, E. Ferrer, M. L. Pedro Botet, F. Gual, M. Cusma-Piccione, C. Zito, G. Oreto, R. Giuffre, M. C. Todaro, C. M. Barbaro, S. Lanteri, C. Longordo, J. Salvia, A. Bensaid, R. Gallet, E. Fougeres, P. Lim, J. Nahum, J. F. Deux, P. Gueret, E. Teiger, J. L. Dubois-Rande, J. L. Monin, F. Behramoglu, Z. Colakoglu, V. Aytekin, C. Demiroglu, L. Gargani, E. Poggianti, R. Bucalo, M. Rizzo, F. Agrusta, P. Landi, R. Sicari, E. Picano, A. Sutandar, B. B. Siswanto, I. Irmalita, G. Harimurti, S. Y. Hayashi, M. M. Nascimento, B. Lindholm, B. Lind, A. Seeberger, M. A. Pachaly, M. C. Riella, A. Bjallmark, L. A. Brodin, L. Poanta, M. Porojan, D. L. Dumitrascu, I. Ikonomidis, S. Tzortzis, J. Lekakis, D. T. Kremastinos, I. Paraskevaidis, I. Andreadou, M. Nikolaou, P. Katsibri, M. Anastasiou-Nana, A. M. Maceira Gonzalez, C. Ripoll, J. Cosin-Sales, B. Igual, J. Salazar, V. Belloch, J. Cosin-Aguilar, D. J. Pennell, M. Masaki, J. N. Pulido, T. Yuasa, S. Gillespie, B. Afessa, D. R. Brown, S. V. Mankad, J. K. Oh, A. L. Gurghean, A. M. Mihailescu, I. Tudor, C. Homentcovschi, M. Muraru, I. V. Bruckner, C. E. Correia, B. Rodrigues, D. Moreira, L. F. Santos, P. Gama, O. Dionisio, C. Cabral, O. Santos, T. Bombardini, S. Gherardi, G. Arpesella, S. Valente, I. Calamai, E. Pasanisi, S. Sansoni, P. Szymanski, P. Dobrowolski, M. Lipczynska, A. Klisiewicz, P. Hoffman, D. Stepowski, B. Kurtz, G. Grezis-Soulie, A. Savoure, F. Anselme, F. Bauer, J. Castillo, N. Herszkowicz, C. Ferreira, A. Goscinska, K. Mizia-Stec, W. Poborski, O. Azevedo, I. Quelhas, J. Guardado, M. Fernandes, C. S. Miranda, P. Gaspar, A. Lourenco, R. Medeiros, J. Almeida, S. L Bennani, V. Algalarrondo, S. Dinanian, J. Guiader, C. Juin, D. Adams, M. S. Slama, J. J. Onaindia, O. Quintana, S. Velasco, E. Astigarraga, A. Cacicedo, J. Gonzalez, I. Rodriguez, M. Sadaba, M. Eneriz, E. Laraudogoitia Zaldumbide, I. Nunez-Gil, M. Luaces, J. Zamorano, J. C. Garcia Rubira, D. Vivas, B. Ibanez, P. Marcos Alberca, C. Fernandez Golfin, J. Alonso, C. Macaya, J. Silva Marques, A. G. Almeida, V. Carvalho, C. Jorge, D. Silva, M. Gato Varela, S. Martins, D. Brito, M. G. Lopes, E. Tripodi, B. Miserrafiti, V. Montemurro, R. Scali, P. Tripodi, A. Winkler, A. Madej, I. Hausmanowa-Petrusewicz, M. Fijalkowski, A. Koprowski, M. Jaguszewski, R. Galaska, M. Taszner, A. Rynkiewicz, R. Citro, F. Rigo, G. Provenza, Q. Ciampi, M. M. Patella, A. D'andrea, O. Vriz, C. Astarita, E. Bossone, F. Heggemann, T. H. Walter, T. H. Kaelsch, T. Sueselbeck, T. H. Papavassiliu, M. Borggrefe, D. Haghi, T. Monk-Hansen, C. Have Dall, S. Bisgaard Christensen, M. Snoer, F. Gustafsson, H. Rasmusen, E. Prescott, G. Finocchiaro, B. Pinamonti, M. Merlo, G. Barbati, A. Di Lenarda, R. Bussani, G. Sinagra, T. Butz, C. N. Lang, A. Meissner, G. Plehn, H. Yeni, C. Langer, H. J. Trappe, X. Gu, X. Y. Gu, Y. H. He, Z. A. Li, J. C. Han, J. Chen, P. Gaudron, M. Niemann, S. Herrmann, K. Hu, B. Bijnens, H. Hillenbrand, M. Beer, G. Ertl, F. Weidemann, A. Mazzone, M. Mariani, I. Foffa, A. Vianello, S. Del Ry, S. Bevilacqua, M. G. Andreassi, M. Glauber, S. Berti, M. Grabowski, M. Postula, A. Dragulescu, G. Van Arsdell, O. Al-Radi, C. Caldarone, L. Mertens, K. J. Lee, R. P. Casula, H. Yadav, A. Cherian, A. D. Hughes, A. Vitarelli, S. D'orazio, B. L. Nguyen, G. Iorio, D. Battaglia, F. Caranci, V. Padella, L. Capotosto, L. Alessandroni, F. Barilla, C. Cardin, S. Hascoet, M. Saudron, G. Caudron, B. Arnaudis, P. Acar, M. M. Sun, X. H. Shu, C. Z. Pan, X. Y. Fang, D. H. Kong, F. Fang, Q. Zhang, Y. S. Chan, J. M. Xie, W. K. Yip, Y. Y. Lam, J. E. Sanderson, C. M. Yu, M. Rosca, K. O' Connor, G. Romano, J. Magne, A. Calin, D. Muraru, L. Pierard, P. Lancellotti, A. Roushdy, I. Elfiky, G. El Shahid, A. Elfiky, M. El Sayed, K. Wierzbowska-Drabik, L. Chrzanowski, A. Kapusta, E. Plonska-Goscinak, M. Krzeminska-Pakula, M. Kurpesa, T. Rechcinski, E. Trzos, J. D. Kasprzak, M. K. Ersboll, N. Valeur, U. M. Mogensen, M. Andersen, C. Hassager, P. Sogaard, L. V. Kober, M. Kloeckner, D. Hayat, C. Dussault, N. Lellouche, N. Elbaz, A. Demopoulos, G. Hatzigeorgiou, E. Leontiades, A. Motsi, G. Karatasakis, G. Athanassopoulos, P. Zycinski, J. Kasprzak, M. C. Vazquez Alvarez, C. Medrano Lopez, M. Camino Lopez, S. Granja, J. L. Zunzunegui Martinez, E. Maroto Alvaro, W.-C. Tsai, J.-Y. Chen, Y.-W. Liu, C.-C. Lin, L.-M. Tsai, D. C. Gomes, S. Robalo Martins, M. R. Gois, S. Ribeiro, A. Nunes Diogo, P. Sengupta, G. Di Bella, G. Caracciolo, S. Lentini, E. Kinova, N. Zlatareva, A. Goudev, N. Papagiannis, M. Mpouki, A. Papagianni, M. Vorria, G. Mpenetos, D. Lytra, E. Papadopoulou, P. Sgourakis, J. Malakos, J. Kyriazis, V. Kodali, R. Toole, A. S. Gopal, J. Celutkiene, A. Rudys, V. Grabauskiene, S. Glaveckaite, E. Sadauskiene, Z. Lileikiene, N. Bickauskaite, E. Ciburiene, V. Skorniakov, A. Laucevicius, C. H. Attenhofer Jost, M. Pfyffer, R. Lindquist, J. L. F. Santos, O. R. C. Coelho, C. M. Mady, M. H. P. Picard, V. M. C. Salemi, L. Funk, M. W. Prull, J.-Y. Shih, Y.-Y. Huang, K. O'connor, M. Moonen, L. A. Pierard, D. C. Cozma, C. Mornos, A. Ionac, L. Petrescu, D. Dragulescu, R. Dan, I. Popescu, S. I. Dragulescu, T. G. Von Lueder, A. Hodt, G. F. Gjerdalen, T. E. Andersen, E. E. Solberg, K. Steine, T. Van Mieghem, M. Rostek, W. Pikto-Pietkiewicz, M. Dluzniewski, A. Antoniewicz, S. Poletajew, A. Borowka, T. Pasierski, S. K. Malyutina, M. Ryabikov, J. Ragino, A. Ryabikov, S. Sitia, L. Tomasoni, F. Atzeni, L. Gianturco, P. Sarzi-Puttini, V. De Gennaro Colonna, M. Turiel, F. R. Gutierrez, G. Lefhtheriotis, R. T. Hurst, M. R. Nelson, F. Mookadam, V. Thota, U. Emani, M. Al Harthi, J. Stepanek, S. Cha, S. J. Lester, E. M. M. Ho, L. Hemeryck, M. Hall, K. Scott, K. Bennett, A. Mahmud, C. Daly, G. King, R. T. Murphy, A. S. Brown, A. J. Teske, J. D'Hooge, P. Claus, F. Rademakers, L. Santos, N. Cortez-Dias, S. Goncalves, M. Almeida Ribeiro, A. Bordalo E Sa, C. Magnino, P. Marcos-Alberca, A. Milan, C. Almeria, V. Caniadas, J. L. Rodrigo, L. Perez De Isla, J. L. Zamorano, U. Gustafsson, M. Larsson, P. Lindqvist, L. Brodin, A. Waldenstrom, B. Roosens, S. Hernot, S. Droogmans, G. Van Camp, T. Lahoutte, B. Cosyns, C. M. Rao, D. Aguglia, G. Casciola, C. Imbesi, A. Marvelli, M. Sgro, D. Benedetto, R. Tripepi, C. Zoccali, F. A. Benedetto, L. P. Badano, M. Cardillo, L. Del Mestre, P. Gianfagna, A. Proclemer, H. D. Tschernich, B. Mora, E. Base, U. Weber, J. Dumfarth, C. Mukherjee, H. S. Skaltsiotis, A. K. Kaladaridis, D. B. Bramos, G. K. Kottis, A. A. Antoniou, I. A. Agrios, D. T. Takos, N. V. Vasiladiotis, K. P. Pamboucas, S. T. T. Toumanidis, A. Shim, P. Lipec, B. Michalski, B. Wozniakowski, L. Stefanczyk, A. Rotkiewicz, M. Cameli, M. Lisi, M. Padeletti, E. Bigio, S. Bernazzali, C. Tsoulpas, M. Maccherini, M. Henein, S. Mondillo, I. Garcia Lunar, S. Mingo Santos, V. Monivas Palomero, C. Mitroi, P. Beltran Correas, L. Ruiz Bautista, A. Muniz Lozano, M. Gonzalez Gonzalez, B. Stegemann, K. Willson, R. Zeppellini, A. Iavernaro, M. Zadro, M. Carasi, R. De Domenico, T. Rigo, E. Artuso, G. Erente, A. Ramondo, T. T. Le, F. Q. Huang, Y. Gu, and R. S. Tan

Subjects
Cardiac function curve, medicine.medical_specialty, medicine.anatomical_structure, business.industry, Ventricle, Internal medicine, medicine, Cardiology, Radiology, Nuclear Medicine and imaging, General Medicine, Cardiology and Cardiovascular Medicine, Rotation, business
Published
2010
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4. Guía clínica de la enfermedad de Pompe infantil

Author

Samuel I. Pascual-Pascual, C Medrano-Lopez, S Manrique-Rodriguez, E Villalobos-Pinto, M Ley, A Nascimento, M Martinez-Moreno, C M Fernandez-Llamazares, and J Blasco-Alonso

Subjects
Pediatrics, medicine.medical_specialty, business.industry, 030503 health policy & services, Diagnostico diferencial, MEDLINE, First year of life, General Medicine, Disease, Enzyme replacement therapy, 03 medical and health sciences, 0302 clinical medicine, Medicine, 030212 general & internal medicine, Neurology (clinical), Infantile onset, Age of onset, Stage (cooking), 0305 other medical science, business
Abstract

Infantile-onset Pompe disease has a fatal prognosis in the short term unless it is diagnosed at an early stage and enzyme replacement therapy is not started as soon as possible. A group of specialists from different disciplines involved in this disease have reviewed the current scientific evidence and have drawn up an agreed series of recommendations on the diagnosis, treatment and follow-up of patients. We recommend establishing enzyme treatment in any patient with symptomatic Pompe disease with onset within the first year of life, with a clinical and enzymatic diagnosis, and once the CRIM (cross-reactive immunological material) status is known.

Published
2016
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5. 634 Initial Experience with the Berlin Heart EXCOR Assist Device. Spanish Pediatric Multiinstitutional Study

Author

Luis García-Guereta, M.A. Tejero Hernández, Sonia Marcos-Alonso, D. Albert Brotons, A. Aroca Peinado, M.A. Frías Pérez, R. Greco Martínez, F. Portela Torron, M.J. Santiago, JJ Menéndez Suso, C. Medrano Lopez, J. Casares ediavilla, J. Balcells Ramírez, A. Ferrer Barba, and Ana Teresa Gonçalves

Subjects
Pulmonary and Respiratory Medicine, Transplantation, Pediatrics, medicine.medical_specialty, business.industry, Medicine, Surgery, Medical emergency, Cardiology and Cardiovascular Medicine, business, medicine.disease
Published
2011
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6. CHD and respiratory syncytial virus: global expert exchange recommendations.

Author

Tulloh RMR, Medrano-Lopez C, Checchia PA, Stapper C, Sumitomo N, Gorenflo M, Jung Bae E, Juanico A, Gil-Jaurena JM, Wu MH, Farha T, Dodge-Khatami A, Tsang R, Notario G, and Wegzyn C

Subjects
Antiviral Agents administration & dosage, Child, Preschool, DNA, Viral genetics, Dose-Response Relationship, Drug, Female, Heart Defects, Congenital therapy, Humans, Immunization methods, Infant, Male, Respiratory Syncytial Virus Infections therapy, Respiratory Syncytial Viruses genetics, Consensus, Heart Defects, Congenital complications, Palivizumab administration & dosage, Respiratory Syncytial Virus Infections complications, Respiratory Syncytial Virus Infections virology
Abstract

Background: Palivizumab is the standard immunoprophylaxis against serious disease due to respiratory syncytial virus infection. Current evidence-based prophylaxis guidelines may not address certain children with CHD within specific high-risk groups or clinical/management settings., Methods: An international steering committee of clinicians with expertise in paediatric heart disease identified key questions concerning palivizumab administration; in collaboration with an additional international expert faculty, evidence-based recommendations were formulated using a quasi-Delphi consensus methodology., Results: Palivizumab prophylaxis was recommended for children with the following conditions: <2 years with unoperated haemodynamically significant CHD, who are cyanotic, who have pulmonary hypertension, or symptomatic airway abnormalities; <1 year with cardiomyopathies requiring treatment; in the 1st year of life with surgically operated CHD with haemodynamically significant residual problems or aged 1-2 years up to 6 months postoperatively; and on heart transplant waiting lists or in their 1st year after heart transplant. Unanimous consensus was not reached for use of immunoprophylaxis in children with asymptomatic CHD and other co-morbid factors such as arrhythmias, Down syndrome, or immunodeficiency, or during a nosocomial outbreak. Challenges to effective immunoprophylaxis included the following: multidisciplinary variations in identifying candidates with CHD and prophylaxis compliance; limited awareness of severe disease risks/burden; and limited knowledge of respiratory syncytial virus seasonal patterns in subtropical/tropical regions., Conclusion: Evidence-based immunoprophylaxis recommendations were formulated for subgroups of children with CHD, but more data are needed to guide use in tropical/subtropical countries and in children with certain co-morbidities.

Published
2017
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7. [Clinical guidelines for infantile-onset Pompe disease].

Author

Pascual-Pascual SI, Nascimento A, Fernandez-Llamazares CM, Medrano-Lopez C, Villalobos-Pinto E, Martinez-Moreno M, Ley M, Manrique-Rodriguez S, and Blasco-Alonso J

Subjects
Age of Onset, Humans, Infant, Enzyme Replacement Therapy, Glycogen Storage Disease Type II diagnosis, Glycogen Storage Disease Type II therapy
Abstract

Infantile-onset Pompe disease has a fatal prognosis in the short term unless it is diagnosed at an early stage and enzyme replacement therapy is not started as soon as possible. A group of specialists from different disciplines involved in this disease have reviewed the current scientific evidence and have drawn up an agreed series of recommendations on the diagnosis, treatment and follow-up of patients. We recommend establishing enzyme treatment in any patient with symptomatic Pompe disease with onset within the first year of life, with a clinical and enzymatic diagnosis, and once the CRIM (cross-reactive immunological material) status is known.

Published
2016

9. Absence of cardiovascular effects on young adults exposed in utero to ritodrine: a long-term follow-up.

Author

Alvarez-Seoane M, Pita-Fernández S, Cid MB, Medrano-Lopez C, and Rueda-Nuñez F

Subjects
Adult, Cardiovascular Diseases diagnostic imaging, Cardiovascular System diagnostic imaging, Echocardiography, Female, Heart Ventricles diagnostic imaging, Humans, Pregnancy, Young Adult, Cardiovascular System drug effects, Prenatal Exposure Delayed Effects diagnostic imaging, Ritodrine adverse effects, Tocolytic Agents adverse effects
Abstract

Objective: To determine, using echocardiographs, if young adults exposed in uterus to Ritodrine have long-term cardiovascular effects., Study Design: Retrospective follow-up study. Young adults between the ages of 22- and 26-years-old. Young adults (n=19) exposed in uterus to Ritodrine and age-matched controls (n=27) were studied by means of transthoracic echocardiography. All participants were born following full-term pregnancies. Subgroups of those subjects exposed to the highest dose of Ritodrine and for the longest period of time were established. A multivariate descriptive statistical analysis of the values obtained using transthoracic echocardiography was performed. Echocardiography measurements in M-mode included intraventricular septum and posterior wall thickness, systolic and diastolic diameter of the left ventricle, septum/wall quotient, left ventricle mass and short and ejection fractions. Doppler pressed: E and A peaks in the mitral valve and isovolumetric relaxation time were determined., Results: The mass, posterior wall, systolic diameter and the diastolic diameter of the left ventricle were slightly, but not significantly, higher in the Ritodrine group. The E/A peak and the isovolumetric relaxation time were similar in both groups. A negative correlation between the left ventricle mass index and the total Ritodrine dose (r=-0.67; p=0.051) was found; this disappeared in the subgroups exposed to higher doses and for longer times., Conclusions: The variables studied using echocardiography showed that in uterus exposure to Ritodrine do not have long-term effects on cardiac functionality in young adults.

Published
2009
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