CARDIOMIOPATÍA HIPERTRÓFICA FELINA: BASES GENÉTICAS Y RELACIÓN GENOTIPO-FENOTIPO
Resumen
La cardiomiopatía hipertrófica felina (CMH) es la cardiopatía más frecuente en gatos con una prevalencia poblacional del 15%, pudiendo llegar hasta el 30% en gatos mayores de 9 años. Es una cardiomiopatía genética y heterogénea, caracterizada por la hipertrofia concéntrica del ventrículo izquierdo en ausencia de otras enfermedades que puedan explicar el engrosamiento parietal. Los fenotipos pueden ser muy diversos, es más frecuente en machos y su expresión fenotípica aumenta con la edad.
La CMH felina es análoga a la CMH humana, donde hay descritas más de 1400 mutaciones en al menos 14 genes, y la relación genotipo-fenotipo se ha establecido para muchas de estas.
En medicina felina solo han demostrado ampliamente 2 mutaciones causales, afectando al gen que codifica la proteína C de unión a la miosina (MYBPC3), siendo específicas de raza; gatos de raza Maine Coon (mutación A31P) y gatos de raza Ragdoll (mutación R820W). Otras posibles mutaciones reportadas se consideran todavía de carácter dudoso, con pocos estudios sobre la relación genotipo-fenotipo, exclusivos de las razas citadas.
El objetivo del presente trabajo es revisar y analizar la información actual, ya que la creciente accesibilidad al genotipado está aumentando la posibilidad de investigar nuevos genes asociados con la CMH en gatos. Esto favorecerá la conceptualización de futuros estudios sobre la relación de estas mutaciones con el fenotipo expresado.
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