Phenotypic variability and outcome of arrhythmogenic cardiomyopathy in pediatric and adolescent patients

Autor: DeWitt, E.S., Chandler, S.F., Beausejour-Ladouceur, V., Blume, E., VanderPluym, C., Powell, A.J., Fynn-Thompson, F., Roberts, A., Hylind, R., Sanders, S.P., Lakdawala, N.K., MacRae, C.A., Abrams, D.J.

Publikováno v: In Progress in Pediatric Cardiology September 2017 46:31-31

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SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups

Autor: Michael J. Ackerman, Sonia Franciosi, Carla Spazzolini, Peter J. Schwartz, Laura Zahavich, Annika Winbo, Anna Joong, Hervé Le Marec, Arja S. Vink, Andrew D. Krahn, Isabelle Denjoy, Mangesh Jadhav, Béatrice Guyomarc’h-Delasalle, Virginie Beauséjour-Ladouceur, Johan M Bos, Nico A. Blom, Alban-Elouen Baruteau, Matthias Lachaud, Claudine Rieubland, Jean Marc Lupoglazoff, Minoru Horie, Yanushi D. Wijeyeratne, Peter C. Ruben, Mena Abdelsayed, Jonathan R. Skinner, Elijah R. Behr, George F. Van Hare, Dominic Abrams, Takeshi Aiba, Jean-Baptiste Gourraud, Arthur A.M. Wilde, Junichi Ozawa, Tak-cheung Yung, Wataru Shimizu, Jacob Tfelt-Hansen, Leonardo Liberman, Lia Crotti, Sit Yee Kwok, Anne M. Dubin, David J. Tester, Shubhayan Sanatani, Vincent Probst, Juan Pablo Kaski, Andrew M. Davis, Federica Dagradi, Elizabeth A. Stephenson, Véronique Fressart, Boris Rudic, Leonie C.H. Wong, F. Kyndt, Jean-Jacques Schott

Publikováno v: Baruteau, Alban-Elouen; Kyndt, Florence; Behr, Elijah R; Vink, Arja S; Lachaud, Matthias; Joong, Anna; Schott, Jean-Jacques; Horie, Minoru; Denjoy, Isabelle; Crotti, Lia; Shimizu, Wataru; Bos, Johan M; Stephenson, Elizabeth A; Wong, Leonie; Abrams, Dominic J; Davis, Andrew M; Winbo, Annika; Dubin, Anne M; Sanatani, Shubhayan; Liberman, Leonardo; ... (2018). SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups. European Heart Journal, 39(31), pp. 2879-2887. Oxford University Press 10.1093/eurheartj/ehy412
European heart journal, 39(31), 2879-2887. Oxford University Press

Aims To clarify the clinical characteristics and outcomes of children with SCN5A-mediated disease and to improve their risk stratification. Methods and results A multicentre, international, retrospective cohort study was conducted in 25 tertiary hosp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::210391609ebb08b7077ab6c32d46d026
https://pubmed.ncbi.nlm.nih.gov/30059973