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Una rara mutación del gen Titina causante de miocardiopatía hipertrófica en un individuo omaní
Kumayl Al-Lawati1, Madan M Maddali2
1Department of Heart Failure and Implantable Devices, National Heart Center, The Royal Hospital, Muscat, Oman.
Sultan Qaboos University medical journal
|December 22, 2025
Resumen
Una rara mutación del gen Titina causó miocardiopatía hipertrófica en una mujer de 18 años. Esta afección cardíaca genética provocó una hipertrofia ventricular izquierda grave, dolor en el pecho y la necesidad de un cardioversor-desfibrilador implantable.
Área de la Ciencia:
- Cardiología; Genética; Diagnóstico Médico
Sus antecedentes:
- La miocardiopatía hipertrófica (MCH) es un trastorno genético caracterizado por hipertrofia miocárdica.
- El engrosamiento del septo interventricular es una característica común de la MCH.
- Las mutaciones genéticas son una causa principal de las miocardiopatías hereditarias.
Objetivo del estudio:
- Informar un caso de miocardiopatía hipertrófica en una mujer de 18 años.
- Investigar la base genética de la miocardiopatía de la paciente.
- Destacar los desafíos diagnósticos y de manejo en una paciente joven con MCH.
Principales métodos:
- Ecocardiografía transtorácica para evaluar la hipertrofia ventricular izquierda y la obstrucción.
- Resonancia magnética cardíaca (RMC) para evaluar la cicatrización miocárdica.
- Pruebas genéticas para identificar mutaciones causales.
- Presentación clínica y respuesta a la terapia médica.
Principales resultados:
- La paciente presentó dolor torácico punzante post-esfuerzo, indicativo de miocardiopatía hipertrófica obstructiva.
- La ecocardiografía mostró hipertrofia ventricular izquierda generalizada con un grosor máximo en la pared inferolateral y obstrucción de la cavidad media.
- La resonancia magnética reveló una cicatrización miocárdica significativa, aumentando el riesgo de muerte súbita cardíaca.
- Las pruebas genéticas identificaron una rara mutación del gen Titina.
Conclusiones:
- Se identificó una rara mutación del gen Titina como la causa de la miocardiopatía hipertrófica en esta paciente joven.
- Fue necesario un tratamiento médico agresivo y la implantación de un dispositivo (DAI) debido al alto riesgo de muerte súbita cardíaca.
- El caso subraya la importancia de las pruebas genéticas en el diagnóstico y manejo de la MCH, especialmente en personas jóvenes.
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