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Fredy Chipa

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Articles

Concealed cardiomyopathy in sudden childhood death: translation from molecular autopsy to family assessment

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By Andrea Greco, José Cruzalegui, Estefanía Martinez-Barrios, Marisa Ortega, Nuria Molina, Sergi César, Simone Grassi, Antonio Serrano Oliva, Rocío Toro, Eneko Barbería, Silvia Planas, Georgia Sarquella-Brugada, Oscar Campuzano, Óscar Paz Campuzano, Agustín Luján-Carrillo, Fernanda Merchán, Fredy Chipa, Nuria Diez-Escuté, Patricia Cerralbo, Irene Zschaeck, Juan Carlos Canós
| Nature Verified
Abstract One of the ongoing challenges in childhood remains the unexplained sudden death. Autopsies identify a subset of cases that harbor rare variants in genes associated with cardiomyopathy in structurally normal hearts, suggesting a concealed cardiomyopathy. Our goal is to interpret all available data in each case to provide answers to unexplained deaths, while also implementing preventative measures for at-risk family members.
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