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Riesgo de aneurisma aórtico y la mutación somática V617F: información de un estudio de detección cardiovascular
Lasse M Obel1,2,3, Joachim S Skovbo1,2,3, Axel C P Diederichsen1,4
1Elite Centre for Individualized Medicine in Arterial Disease (L.M.O., J.S.S., A.C.P.D., L.M.R., J.S.L.), Odense University Hospital, Denmark.
Circulation
|June 4, 2025
Resumen
La mutación JAK2 V617F está relacionada con los aneurismas aórticos ascendentes, con una mayor frecuencia de alelos variantes correlacionada con un mayor riesgo y tamaño. Este factor genético no se asoció significativamente con los aneurismas aórticos descendentes o abdominales.
Área de la Ciencia:
- Genética cardiovascular
- Hematología
- Biología vascular
Sus antecedentes:
- La mutación JAK2 V617F es un factor clave de las neoplasias mieloproliferativas.
- Investigaciones anteriores sugieren un vínculo entre JAK2 V617F y un mayor riesgo de aneurismas aórticos.
Objetivo del estudio:
- Investigar la asociación entre la frecuencia del alelo variante JAK2 V617F (VAF) y la presencia y gravedad de los aneurismas aórticos ascendentes, descendentes y abdominales.
Principales métodos:
- Un subestudio transversal de los ensayos DANCAVAS I y II incluyó a 8056 participantes.
- Los participantes fueron evaluados para la variación de la secuencia JAK2 V617F, y los diámetros aórticos fueron evaluados a través de tomografías computarizadas.
Principales resultados:
- La variación JAK2 V617F se asoció significativamente con aneurismas aórticos ascendentes, con un mayor VAF correlacionado con un mayor riesgo y tamaño del aneurisma.
- Se observaron aneurismas aórticos ascendentes en el 6,4% de los individuos JAK2 V617F negativos, el 9,0% con VAF < 1%, y el 16,5% con VAF ≥ 1% (P< 0,001).
- No se encontraron asociaciones significativas entre JAK2 V617F y los aneurismas aórticos descendentes o abdominales.
Conclusiones:
- La variación somática JAK2 V617F está asociada de forma independiente con los aneurismas aórticos ascendentes.
- Existe una correlación positiva entre el tamaño ascendente del aneurisma aórtico y JAK2 V617F VAF.
- En pacientes con aneurismas ascendentes de la aorta, y viceversa, puede justificarse el cribado clínico de JAK2 V617F.
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