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Cribado familiar en familiares con riesgo de miocardiopatía ventricular derecha asociada a la placofilina-2

Steven A Muller^1,2,3, Babken Asatryan¹, Alessio Gasperetti¹

¹Division of Cardiology, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD (S.A.M., B.A., A.G., R.T.C., C.T., B.M., S.L.Z., H.C., C.A.J.).

|June 17, 2025

Resumen

Un nuevo algoritmo de detección específico del genotipo para la miocardiopatía ventricular derecha aritmogénica (ARVC) que utiliza variantes de plakophilin-2 (PKP2) ofrece atención personalizada. Este enfoque mejora la estratificación del riesgo y la asignación de recursos clínicos para las familias con VRA.

Palabras clave:

Miocardiopatías muerte súbita, cardíaca genética El genotipo Medicina de precisión

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Área de la Ciencia:

Cardiología
La genética
Medicina Clínica

Sus antecedentes:

El riesgo de miocardiopatía ventricular derecha aritmogénica (ARVC) y las arritmias ventriculares (AV) dependen del genotipo.
El cribado actual de ARVC carece de personalización, lo que requiere protocolos informados por genotipo.
Las variantes del gen Plakophilin-2 (PKP2) son una causa común de ARVC, por lo que el cribado específico de PKP2 es crucial.

Objetivo del estudio:

Desarrollar un algoritmo de cribado seguro y basado en la evidencia específico para las variantes de PKP2 en ARVC.
Permitir recomendaciones personalizadas para el cribado familiar basadas en datos genéticos y clínicos.
Mejorar la eficiencia de la asignación de recursos clínicos en la gestión de la ARVC.

Principales métodos:

Se incluyeron 295 parientes con variantes patógenas/probablemente patógenas de PKP2 de 145 familias.
Evaluación del fenotipo mediante ECG, monitoreo Holter e imágenes cardíacas basadas en los criterios del grupo de trabajo de 2010.
Regresión de Cox y modelado de varios estados para determinar los predictores de desarrollo de ARVC y la ocurrencia de VA.

Principales resultados:

El 12% de los familiares experimentaron VAs, exclusivamente en aquellos con un diagnóstico definitivo de ARVC.
Los parientes con ARVC límite progresaron 5 veces más rápido a ARVC definitivo en comparación con los parientes con genotipo positivo / fenotipo negativo.
Los parientes más jóvenes (20-40 años) tenían un riesgo 2.23 veces mayor de desarrollar ARVC.

Conclusiones:

Desarrolló un algoritmo de cribado longitudinal basado en evidencia de 3 niveles para el ARVC relacionado con PKP2.
El algoritmo integra la edad, los síntomas y el fenotipo de referencia para un cribado personalizado.
El cribado personalizado puede mejorar la atención al paciente y optimizar el uso de recursos clínicos.