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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
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Fenotipo microstructural y microvascular de los portadores de la mutación del sarcoma y la miocardiopatía
George Joy1,2, Christopher I Kelly3, Matthew Webber2,4,5
1Barts Heart Centre, Barts Health NHS Trust, London, UK (G.J., I.P., P.V., R.K.H., H.K., A.B., M.L., K.S., S.A.M., M.O., C.M., R.H.D., P.D.L., J.C.M., L.R.L.).
Circulation
|July 18, 2023
Resumen
El desorden de los miocitos y la enfermedad microvascular (MVD) son indicadores tempranos de la miocardiopatía hipertrófica (HCM). Estos cambios, detectables incluso sin hipertrofia, sirven como biomarcadores cruciales para las terapias modificadoras de la enfermedad.
Área de la Ciencia:
- Cardiología
- Los biomarcadores
- Imágenes médicas
Sus antecedentes:
- La cardiomiopatía hipertrófica (HCM) está relacionada con el desorden de los miocitos y la enfermedad microvascular (MVD), que puede ocurrir temprano.
- La detección temprana del desarrollo del fenotipo es crucial para las nuevas terapias modificadoras de la enfermedad.
Objetivo del estudio:
- Evaluar la microestructura del miocardio y la MVD como biomarcadores tempranos y específicos de la enfermedad en la CMH.
- Evaluar estos biomarcadores en la CMH manifiesta (genotipo positivo/negativo) y subclínica.
- Para explorar las relaciones entre la microestructura, MVD, cambios eléctricos y factores genéticos.
Principales métodos:
- Un estudio multicéntrico de 206 sujetos: CMH manifiesta (G+LVH+, G-LVH+), CMH subclínica (G+LVH-), y voluntarios sanos.
- Utilizó ECG de 12 derivaciones, resonancia magnética cardíaca de perfusión cuantitativa y imágenes tensoriales de difusión cardíaca (DTI).
- Los parámetros DTI midieron la anisotropía fraccionaria, la difusividad media y el segundo ángulo vectorial propio para evaluar la microestructura.
Principales resultados:
- En comparación con los controles, los pacientes con CMH abierta mostraron alteraciones significativas en la microestructura y la MVD.
- La CMH subclínica (G+LVH-) también exhibió microestructura alterada y MVD, lo que indica cambios tempranos.
- El desorden de los miocitos y la MVD se asociaron de forma independiente con hallazgos anormales en el ECG tanto en la CMH manifiesta como en la subclínica.
Conclusiones:
- Las alteraciones microstruturales y la MVD están presentes en la CMH manifiesta y difieren entre los pacientes con genotipo positivo y negativo.
- Estos cambios ocurren incluso en ausencia de hipertrofia en los portadores de la mutación y se correlacionan con anomalías en el ECG.
- La microestructura del miocardio y la MVD funcionan como biomarcadores de fenotipo temprano, vitales para la era de las terapias modificadoras de la enfermedad.
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