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Enfermedad hereditaria de la aorta torácica: nuevos conocimientos y objetivos traslacionales

Alexander J Fletcher¹, Maaz B J Syed¹, Timothy J Aitman²

¹University of Edinburgh Centre for Cardiovascular Science, Royal Infirmary of Edinburgh, United Kingdom (A.J.F., M.B.J.S., D.E.N., N.L.W.).

|May 12, 2020

Resumen

Las aortopatías torácicas hereditarias causan debilidad aórtica, aumentando el riesgo de disección. El monitoreo actual del diámetro es insuficiente; se necesitan herramientas de evaluación de riesgos mejoradas para un mejor manejo del paciente.

Área de la Ciencia:

Medicina cardiovascular
La genética
Diagnóstico médico

Sus antecedentes:

Las aortopatías torácicas hereditarias son afecciones congénitas que conducen a la enfermedad de la aorta torácica.
La debilidad de la pared aórtica y la hemodinámica anormal causan la dilatación aórtica, lo que puede conducir a la disección o ruptura.
La evaluación actual del riesgo se basa en el diámetro aórtico, que es un indicador inadecuado de eventos adversos.

Objetivo del estudio:

Para resumir los mecanismos genéticos subyacentes a las aortopatías hereditarias.
Evaluar críticamente los biomarcadores actuales, las imágenes y los objetivos terapéuticos para mejorar el manejo de los pacientes.
Destacar la necesidad de mejores herramientas de evaluación de riesgos en pacientes con aortopatía.

Principales métodos:

Revisión de la comprensión actual de los mecanismos genéticamente determinados en las aortopatías hereditarias.
Evaluación crítica de los biomarcadores sanguíneos disponibles.
Evaluación de las técnicas de imagen y objetivos terapéuticos.

Principales resultados:

Los factores genéticos contribuyen significativamente a la debilidad de la pared aórtica en las aortopatías hereditarias.
Los biomarcadores y técnicas de imagen existentes tienen limitaciones para predecir el riesgo de disección o ruptura.
Varios objetivos terapéuticos prometedores están surgiendo para el manejo de pacientes.

Conclusiones:

Una comprensión más profunda de las vías moleculares es crucial para identificar nuevos biomarcadores y terapias.
La mejora de las herramientas de estratificación del riesgo más allá del diámetro aórtico es una prioridad de investigación.
Se necesitan estrategias de tratamiento mejoradas para los pacientes con aortopatías torácicas hereditarias.

Palabras clave:

Síndrome de Marfan aneurisma, disección Aneurisma de la aorta Válvula aórtica bicúspide Los biomarcadores

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