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Fenotipos de resonancia magnética cardíaca específicos del sexo en la enfermedad de Danon: un estudio de cohorte
Ni Liu1,2, Kai Yang1, Guijuan Cao2
1Department of Magnetic Resonance Imaging, Fuwai Hospital, State Key Laboratory of Cardiovascular Disease, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Journal of magnetic resonance imaging : JMRI
|August 30, 2025
Resumen
Los hombres con enfermedad de Danon (DD) desarrollan predominantemente cardiomiopatía hipertrófica, mientras que las mujeres presentan cardiomiopatía dilatada. La resonancia magnética cardíaca revela patrones distintos basados en el sexo, ayudando al diagnóstico personalizado y al manejo de este trastorno vinculado al X.
Área de la Ciencia:
- Cardiología
- La genética
- Imágenes médicas
Sus antecedentes:
- La enfermedad de Danon (DD) es un trastorno ligado a X causado por mutaciones LAMP2, que conduce a una miocardiopatía grave.
- Las diferencias reconocidas basadas en el sexo en los hallazgos de resonancia magnética cardíaca (MR cardíaca) en DD carecen de análisis cuantitativo.
- Comprender estas diferencias es crucial para los umbrales de diagnóstico específicos del sexo y las estrategias de tratamiento personalizadas.
Objetivo del estudio:
- Investigar y cuantificar las diferencias basadas en el sexo en las manifestaciones cardíacas de RM en pacientes con enfermedad de Danon.
- Para establecer biomarcadores de imágenes específicos del sexo para el DD.
- Informar estrategias de manejo clínico adaptadas basadas en fenotipos cardíacos específicos del sexo.
Principales métodos:
- Análisis retrospectivo de datos de resonancia magnética cardíaca de 24 pacientes con enfermedad de Danon (15 hombres, 9 mujeres).
- Utilizó una resonancia magnética 3-T que incluye imágenes de cine, mejora tardía de gadolinio (LGE), mapeo T1 y mapeo T2.
- Evaluación estandarizada de los índices estructurales, las métricas funcionales (por ejemplo, LVEF, cepa) y la caracterización de los tejidos (extensión de LGE, valores de T1/T2).
Principales resultados:
- Los machos presentaron predominantemente cardiomiopatía hipertrófica (HCM), mientras que las hembras presentaron cardiomiopatía dilatada (DCM) con espesor septal preservado.
- Las hembras mostraron una fracción de eyección ventricular izquierda (LVEF) significativamente peor y un deterioro longitudinal global más pronunciado.
- La resonancia magnética cardíaca reveló un LGE extenso, un volumen extracelular elevado (ECV) y valores prolongados de T1/ T2, con patrones de distribución y gravedad específicos del sexo.
Conclusiones:
- Se identifican patrones de resonancia magnética cardíaca específicos del sexo en la enfermedad de Danon.
- Los machos son más propensos a la CMH, mientras que las hembras suelen presentar DCM.
- Estos hallazgos apoyan el diagnóstico estratificado por sexo, la vigilancia y el manejo de la enfermedad de Danon.
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