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Reevaluar la contribución genética de la miocardiopatía dilatada monogénica
Francesco Mazzarotto1,2,3,4, Upasana Tayal1,2, Rachel J Buchan1,2
1National Heart and Lung Institute (F.M., U.T., R.J.B., W.M., A.W., N.W., R.G., E.M., T.J.W.D., L.E.F., M.A., P.I.T., E.E., A.J.B., A.M.R., P.J.R.B., S.K.P., S.A.C., J.S.W.), Imperial College London, United Kingdom.
Circulation
|January 28, 2020
Resumen
Este estudio identifica 12 genes clave asociados con la miocardiopatía dilatada (DCM), mejorando la precisión del diagnóstico para esta afección cardíaca genética. Estos hallazgos mejoran la interpretación clínica de las variantes raras en las pruebas genéticas de DCM.
Área de la Ciencia:
- La genética
- Cardiología
- Medicina genómica
Sus antecedentes:
- La miocardiopatía dilatada (DCM) es una enfermedad cardíaca genética compleja con numerosos genes sospechosos.
- El descubrimiento de genes anteriores a menudo pasaba por alto la variación de la población, lo que afectaba la confiabilidad del diagnóstico.
Objetivo del estudio:
- Identificar genes clínicamente interpretables y fuertemente asociados con la DCM monogénica dominante.
- Evaluar la frecuencia de las variantes raras en los genes DCM comúnmente analizados.
Principales métodos:
- Se secuenció 56 genes presuntos de DCM en 2538 pacientes con DCM y 912 controles sanos.
- Utilizó un panel de secuenciación TruSight Cardio y datos agregados para el metanálisis.
Principales resultados:
- Se encontró una asociación sólida para las variantes en los genes TTN y DSP.
- 10 genes adicionales (MYH7, LMNA, BAG3, TNNT2, TNNC1, PLN, ACTC1, NEXN, TPM1, VCL) mostraron enriquecimiento en subconjuntos específicos de DCM.
- Estos 12 genes explicaron el 17-26% de los casos de DCM, con TPM1 y VCL potencialmente vinculados a las formas de inicio temprano.
Conclusiones:
- Se identificaron 12 genes con alto valor diagnóstico para la DCM.
- Los hallazgos mejorarán la interpretación de las pruebas de diagnóstico y reducirán los resultados no concluyentes.
- Se necesita una evaluación adicional de otros genes para su papel en la DCM mendeliana.
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