Hypertrophic cardiomyopathy due to truncating variants in myosin binding protein C: a Spanish cohort
Maria Melendo-Viu, Rafael Salguero-Bodes, María Valverde-Gómez, Jose María Larrañaga-Moreira, Roberto Barriales, Carles Díez-Lopez, Javier Limeres Freire, Maria Luisa Peña-Peña, Pablo Garcia Pavia, Tomas Ripoll, Vicente Climent-Payá, Maria Gallego Delgado, Esther Zorio, Francisco José Bermudez Jimen · 2024
Read Hypertrophic cardiomyopathy due to truncating variants in myosin binding protein C: a Spanish cohort by Maria Melendo-Viu, Rafael Salguero-Bodes, María Valverde-Gómez, Jose María Larrañaga-Moreira, Roberto Barriales, Carles Díez-Lopez, Javier Limeres Freire, Maria Luisa Peña-Peña, Pablo Garcia Pavia, Tomas Ripoll, Vicente Climent-Payá, Maria Gallego Delgado, Esther Zorio, Francisco José Bermudez Jimen (2024) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11590831.txt.
Description
Maria Melendo-Viu and colleagues published a cohort study in 2024. They studied inherited thick heart muscle disease in Spain. All patients carried truncating variants in one gene. The gene, MYBPC3, helps build heart muscle fibers. Such variants were once linked to mild disease. Patients and relatives were followed for years retrospectively. Heart thickness, pumping function, and events were recorded. Carriers with and without disease were compared. Average participants were middle-aged with few symptoms.
Heart thickening was modest in most carriers overall. Affected patients had thicker walls than relatives clearly. Only a minority of relatives developed the disease phenotype. Pumping function was generally preserved in the cohort. The picture supports a relatively favorable outlook here. Family screening still matters for early detection. Long follow-up helps refine risk for relatives.
Catalog record
| CREATOR | Maria Melendo-Viu, Rafael Salguero-Bodes, María Valverde-Gómez, Jose María Larrañaga-Moreira, Roberto Barriales, Carles Díez-Lopez, Javier Limeres Freire, Maria Luisa Peña-Peña, Pablo Garcia Pavia, Tomas Ripoll, Vicente Climent-Payá, Maria Gallego Delgado, Esther Zorio, Francisco José Bermudez Jimen |
|---|---|
| YEAR | 2024 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 32 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |