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Asociación de las variantes de cardiomiopatía hereditaria patógena/probablemente patógena con la insuficiencia
Naman S Shetty1, Mokshad Gaonkar2, Akhil Pampana2
1Department of Anesthesia, Critical Care and Pain Medicine, Massachusetts General Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA.
Mayo Clinic proceedings
|August 23, 2025
Resumen
Aproximadamente 1 de cada 140 adultos tiene variantes hereditarias de miocardiopatía, lo que aumenta el riesgo de insuficiencia cardíaca. El cribado genético puede identificar portadores para una intervención temprana y reducir la incidencia de insuficiencia cardíaca.
Área de la Ciencia:
- La genética
- Cardiología
- Medicina de precisión
Sus antecedentes:
- Las cardiomiopatías hereditarias son una causa importante de insuficiencia cardíaca.
- Las variantes genéticas juegan un papel crucial en el desarrollo de estas condiciones.
- Comprender la prevalencia y el impacto de estas variantes es vital para la salud pública.
Objetivo del estudio:
- Determinar la prevalencia de las variantes de cardiomiopatía hereditaria patógena/probablemente patógena en las cohortes de TransOmic for Precision of Medicine (TOPMed).
- Evaluar la asociación entre la presencia de estas variantes y el riesgo de desarrollar insuficiencia cardíaca.
Principales métodos:
- Se realizó un estudio de cohorte retrospectivo utilizando datos de TOPMed de adultos estadounidenses de ascendencia múltiple.
- El estado de portador para las variantes de cardiomiopatía hereditaria patógena/probablemente patógena se identificó utilizando las clasificaciones de ClinVar.
- Se utilizaron modelos de riesgos proporcionales de Cox para analizar la asociación entre el estado de portador y el riesgo de insuficiencia cardíaca, ajustando las covariables.
Principales resultados:
- Entre 30.977 participantes, el 0,7% (229 individuos) fueron identificados como portadores de variantes de miocardiopatía hereditaria patógena/probablemente patógena.
- La incidencia de insuficiencia cardíaca fue mayor en los portadores de la variante (2,06 por 1000 personas-año) en comparación con los no portadores (1,40 por 1000 personas-año).
- La presencia de estas variantes se asoció con un aumento de 1,68 veces el riesgo de insuficiencia cardíaca (HR, 1,68; IC del 95%, 1,29-2,22).
Conclusiones:
- Aproximadamente 1 de cada 140 adultos estadounidenses tiene una variante de miocardiopatía, lo que aumenta significativamente su riesgo de insuficiencia cardíaca.
- Se recomienda la identificación temprana de los portadores mediante el cribado genético dirigido.
- Las intervenciones preventivas para los portadores podrían reducir potencialmente la incidencia de insuficiencia cardíaca.
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