Clinical presentation and long‐term outcomes of infantile hypertrophic cardiomyopathy: a European multicentre study

Autor: Gabrielle Norrish, Gali Kolt, Elena Cervi, Ella Field, Kathleen Dady, Lidia Ziółkowska, Iacopo Olivotto, Silvia Favilli, Silvia Passantino, Giuseppe Limongelli, Martina Caiazza, Marta Rubino, Anwar Baban, Fabrizio Drago, Karen Mcleod, Maria Ilina, Ruth McGowan, Graham Stuart, Vinay Bhole, Orhan Uzun, Amos Wong, Laz Lazarou, Elspeth Brown, Piers E.F. Daubeney, Amrit Lota, Grazia Delle Donne, Katie Linter, Sujeev Mathur, Tara Bharucha, Satish Adwani, Jon Searle, Anca Popoiu, Caroline B. Jones, Zdenka Reinhardt, Juan Pablo Kaski

Publikováno v: ESC Heart Failure, Vol 8, Iss 6, Pp 5057-5067 (2021)

Abstract Aims Children presenting with hypertrophic cardiomyopathy (HCM) in infancy are reported to have a poor prognosis, but this heterogeneous group has not been systematically characterized. This study aimed to describe the aetiology, phenotype,

Externí odkaz: https://doaj.org/article/606e02324a3e411484c1c9f074115236

Childhood Hypertrophic Cardiomyopathy: A Disease of the Cardiac Sarcomere

Autor: Gabrielle Norrish, Ella Field, Juan P. Kaski

Publikováno v: Frontiers in Pediatrics, Vol 9 (2021)

Hypertrophic cardiomyopathy is the second most common cause of cardiomyopathy presenting during childhood and whilst its underlying aetiology is variable, the majority of disease is caused by sarcomeric protein gene variants. Sarcomeric disease can p

Externí odkaz: https://doaj.org/article/d011ab1f07044d7baa2a907ff9acaa73

Natural History of Hypertrophic Cardiomyopathy in Noonan Syndrome With Multiple Lentigines

Autor: Emanuele Monda, Aaron Prosnitz, Rossella Aiello, Michele Lioncino, Gabrielle Norrish, Martina Caiazza, Fabrizio Drago, Meaghan Beattie, Marco Tartaglia, Maria Giovanna Russo, Steven D. Colan, Giulio Calcagni, Bruce D. Gelb, Juan Pablo Kaski, Amy E. Roberts, Giuseppe Limongelli

Publikováno v: Circulation: Genomic and Precision Medicine.

BACKGROUND: We aimed to examine clinical features, and outcomes of consecutive molecularly characterized patients with Noonan syndrome with multiple lentigines and hypertrophic cardiomyopathy. METHODS: A retrospective, longitudinal multicenter cohort

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::41db7bb9bdaba8b3f607412bacb8560a
https://doi.org/10.1161/circgen.122.003861

Clinical features and natural history of preadolescent nonsyndromic hypertrophic cardiomyopathy

Autor: Gabrielle Norrish, Aoife Cleary, Ella Field, Elena Cervi, Olga Boleti, Lidia Ziółkowska, Iacopo Olivotto, Diala Khraiche, Giuseppe Limongelli, Aris Anastasakis, Robert Weintraub, Elena Biagini, Luca Ragni, Terence Prendiville, Sophie Duignan, Karen McLeod, Maria Ilina, Adrian Fernandez, Chiara Marrone, Regina Bökenkamp, Anwar Baban, Peter Kubus, Piers E.F. Daubeney, Georgia Sarquella-Brugada, Sergi Cesar, Sabine Klaassen, Tiina H. Ojala, Vinay Bhole, Constancio Medrano, Orhan Uzun, Elspeth Brown, Ferran Gran, Gianfranco Sinagra, Francisco J. Castro, Graham Stuart, Hirokuni Yamazawa, Roberto Barriales-Villa, Luis Garcia-Guereta, Satish Adwani, Katie Linter, Tara Bharucha, Esther Gonzales-Lopez, Ana Siles, Torsten B. Rasmussen, Margherita Calcagnino, Caroline B. Jones, Hans De Wilde, Toru Kubo, Tiziana Felice, Anca Popoiu, Jens Mogensen, Sujeev Mathur, Fernando Centeno, Zdenka Reinhardt, Sylvie Schouvey, Perry M. Elliott, Juan Pablo Kaski

Publikováno v: Norrish, G, Cleary, A, Field, E, Cervi, E, Boleti, O, Ziółkowska, L, Olivotto, I, Khraiche, D, Limongelli, G, Anastasakis, A, Weintraub, R, Biagini, E, Ragni, L, Prendiville, T, Duignan, S, McLeod, K, Ilina, M, Fernandez, A, Marrone, C, Bökenkamp, R, Baban, A, Kubus, P, Daubeney, P E F, Sarquella-Brugada, G, Cesar, S, Klaassen, S, Ojala, T H, Bhole, V, Medrano, C, Uzun, O, Brown, E, Gran, F, Sinagra, G, Castro, F J, Stuart, G, Yamazawa, H, Barriales-Villa, R, Garcia-Guereta, L, Adwani, S, Linter, K, Bharucha, T, Gonzales-Lopez, E, Siles, A, Rasmussen, T B, Calcagnino, M, Jones, C B, De Wilde, H, Kubo, T, Felice, T, Popoiu, A, Mogensen, J, Mathur, S, Centeno, F, Reinhardt, Z, Schouvey, S, Elliott, P M & Kaski, J P 2022, ' Clinical Features and Natural History of Preadolescent Nonsyndromic Hypertrophic Cardiomyopathy ', Journal of the American College of Cardiology, vol. 79, no. 20, pp. 1986-1997 . https://doi.org/10.1016/j.jacc.2022.03.347
JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Journal of the American College of Cardiology, 79(20), 1986-1997. ELSEVIER SCIENCE INC
Scientia

Childhood hypertrophic cardiomyopathy; Outcomes; Phenotype Miocardiopatía hipertrófica infantil; Resultados; Fenotipo Miocardiopatia hipertròfica infantil; Resultats; Fenotip Background Up to one-half of childhood sarcomeric hypertrophic cardiomyo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e91d357017e24e41bf57aeed4c2ec6bf
http://edoc.mdc-berlin.de/21636/7/21636suppl.docx

External validation of the HCM Risk-Kids model for predicting sudden cardiac death in childhood hypertrophic cardiomyopathy

Autor: Chen Qu, Fernando Centeno, Sara Saberi, Joseph W. Rossano, Gabrielle Norrish, Sabine Klaassen, Anca Popoiu, Carolyn Y. Ho, Elena Cervi, Ella Field, Steve Colan, Hirokuni Yamazawa, Diala Khraiche, Chiara Marrone, Iacopo Olivotto, Samuel G. Wittekind, Christopher Semsarian, Mark W. Russell, Adam S. Helms, Perry M. Elliott, Sharlene M. Day, Juan Pablo Kaski, Jodie Ingles, Tiina Ojala, Rumana Z Omar, Gianfranco Sinagra, Sylvie Schouvey

Aims Sudden cardiac death (SCD) is the most common mode of death in childhood hypertrophic cardiomyopathy (HCM). The newly developed HCM Risk-Kids model provides clinicians with individualized estimates of risk. The aim of this study was to externall

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c2f817067a246a2ed5d7ddb13505ffa
http://edoc.mdc-berlin.de/21038/2/21038suppl.docx