Hypertrophic cardiomyopathy due to truncating variants in myosin binding protein C: a Spanish cohort.

doi:10.1136/openhrt-2024-002891

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Article

Hypertrophic cardiomyopathy due to truncating variants in myosin binding protein C: a Spanish cohort.

Open heart - 24 Nov 2024

Melendo-Viu Maria, Salguero-Bodes Rafael, Valverde-Gómez María, Larrañaga-Moreira Jose María, Barriales Roberto, Díez-Lopez Carles, Limeres Freire Javier, Peña-Peña Maria Luisa, Garcia Pavia Pablo, Ripoll Tomas, Climent-Payá Vicente, Gallego Delgado Maria, Zorio Esther, Bermudez Jimenez Francisco José, García-Pinilla José Manuel, Méndez Fernández Irene, Sabater-Molina Maria, Perez Asensio Ana, Marchán-Lopez Álvaro, Arribas Ynsaurriaga Fernando, Bueno Hector, Palomino Doza Julián A

Abstract excerpt

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is an inherited disorder whose causal variants involve sarcomeric protein genes. One of these is myosin-binding protein C (MYBPC3), being previously associated with a favourable prognosis. Our objective is to describe the clinical characteristics and events of a molecularly homogeneous HCM cohort associated with truncating MYBPC3 variants. METHODS AND RESULTS: A...

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Identifiers

PMID: 39581692
DOI: 10.1136/openhrt-2024-002891
PMCID: PMC11590831

Genes

MYBPC3

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