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Rendimiento de la detección clínica de la miocardiopatía hipertrófica en niños parientes de primer grado
Gabrielle Norrish1,2, Joanna Jager1,2, Ella Field1
1Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, London UK (G.N., J.J., E.F., H.F., E.L., E.C., J.P.K.).
Circulation
|April 23, 2019
Resumen
Casi el 5% de los niños examinados para la miocardiopatía hipertrófica (HCM) son diagnosticados, a menudo antes de la adolescencia. Esto sugiere que el cribado clínico precoz para la CMH familiar puede ser beneficioso.
Área de la Ciencia:
- Cardiología
- La genética
- Pediatría
Sus antecedentes:
- La cardiomiopatía hipertrófica (HCM) es una enfermedad hereditaria del músculo cardíaco.
- Las directrices actuales recomiendan la detección de familiares a partir de los 10 años.
- El valor clínico de este cribado basado en la edad no está bien establecido.
Objetivo del estudio:
- Evaluar la utilidad clínica de las recomendaciones actuales de detección de la CMH familiar en niños.
- Determinar la edad de aparición y la presentación de la CMH en familiares pediátricos.
Principales métodos:
- Análisis retrospectivo de datos clínicos anónimos de niños sometidos a cribado de CMH.
- Criterios de inclusión: niños (≤ 18 años) con un familiar de primer grado diagnosticado con CMH.
- Evaluaciones en serie realizadas entre 1994 y 2017.
Principales resultados:
- 32 de 1198 niños (2,7%) diagnosticados al inicio; 25 más desarrollaron CMH durante el seguimiento.
- La edad media al momento del diagnóstico fue de 10 años, y la mayoría fue diagnosticada antes de los 12 años.
- El 5% de los familiares infantiles de primer grado examinados cumplieron con los criterios de CMH, y muchos presentaron preadolescencia.
Conclusiones:
- El diagnóstico de HCM en familiares pediátricos ocurre con frecuencia, a menudo antes de los 10 años.
- El fenotipo variado y a veces grave de la CMH infantil apoya la detección temprana.
- Las directrices actuales de detección pueden necesitar revisión para incluir a los niños más pequeños.
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