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Mutación homocigótica en la troponina T cardíaca: implicaciones para la cardiomiopatía hipertrófica

C Y Ho¹, H M Lever, R DeSanctis

¹Cardiovascular Division, Brigham and Women's Hospital, Harvard Medical School and Howard Hughes Medical Institute, Boston, MA 02115, USA.

|October 18, 2000

Resumen

Una nueva mutación cardíaca de la troponina T (cTnT), Ser(179)Phe, causa cardiomiopatía hipertrófica familiar grave (HCM) en individuos homocigotos, lo que lleva a la muerte súbita. Los portadores heterocigotos exhiben un curso clínico benigno, lo que pone de relieve la importancia del diagnóstico genético en la HCM.

Área de la Ciencia:

Genética cardiovascular Genética cardiovascular Genética cardiovascular Genética cardiovascular Genética cardiovascular
Cardiología Molecular Cardiología Molecular

Sus antecedentes:

Las mutaciones en la troponina T cardíaca (cTnT) están implicadas en ~15% de los casos de cardiomiopatía hipertrófica familiar (HCM).
Estas mutaciones cTnT a menudo conducen a HCM grave con altas tasas de muerte súbita y mal pronóstico, incluso con hipertrofia leve.

Objetivo del estudio:

Para investigar una familia con antecedentes de HCM y muertes súbitas en niños.
Identificar la base genética de la CMH grave en esta familia y comprender las correlaciones genotipo-fenotipo.

Principales métodos:

Secuenciación del ADN de todos los exones codificantes de proteínas del gen cTnT.
Análisis de muestras de ADN de familiares afectados y no afectados, incluidos los fallecidos.
Evaluación ecocardiográfica de los individuos afectados.

Principales resultados:

Se identificó una nueva mutación, Ser(179)Phe, en el exón 11 del gen cTnT.
Homocigosidad para el Ser(179) La mutación se encontró en un niño que murió repentinamente con hipertrofia biventricular severa.
Heterocigosidad para el Ser ((179) La mutación fue presente en padres no afectados y algunos niños no afectados, lo que indica un fenotipo benigno.

Conclusiones:

La mutación en cTnT es causante de una forma grave y letal de HCM con anormalidades morfológicas significativas.
Los portadores heterocigotos de la mutación Ser(179)Phe tienen un resultado clínico benigno.
Las pruebas genéticas para las mutaciones cTnT son cruciales para diagnosticar la HCM y predecir los resultados clínicos.

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