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

• Published in: Open heart Vol. 11; no. 2; p. e002891
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: England British Cardiovascular Society 24.11.2024; BMJ Publishing Group LTD; BMJ Publishing Group
• Subjects: Adult; Aged; Cardiac arrhythmia; Cardiomyopathy; Cardiomyopathy, Hypertrophic; Cardiomyopathy, Hypertrophic - diagnosis; Cardiomyopathy, Hypertrophic - epidemiology; Cardiomyopathy, Hypertrophic - genetics; Cardiomyopathy, Hypertrophic - physiopathology; Carrier Proteins - genetics; Female; Follow-Up Studies; Genetic Diseases, Inborn; Genetic Predisposition to Disease; Genotype & phenotype; HEART FAILURE; Heart Failure and Cardiomyopathies; Humans; Male; Middle Aged; Morphology; Mutation; Original Research; Pedigree; Phenotype; Prognosis; Proteins; Retrospective Studies; Risk assessment; Spain - epidemiology; Stroke Volume - physiology; Variables; Ventricular Function, Left - physiology; Spain; HEART FAILURE; Genetic Diseases, Inborn; Cardiomyopathy, Hypertrophic
• ISSN: 2053-3624; 2398-595X; 2053-3624
• DOI: 10.1136/openhrt-2024-002891

BackgroundHypertrophic 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 event...