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Asociación de la variante genética de la amiloidosis hereditaria de la transtiretina V122I con la insuficiencia

Scott M Damrauer1,2, Kumardeep Chaudhary3,4,5, Judy H Cho3,4,5,6

  • 1Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia.

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|December 11, 2019
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Resumen

La variante genética TTR V122I está relacionada con un mayor riesgo de insuficiencia cardíaca en individuos de ascendencia africana e hispana / latina. El diagnóstico precoz de la cardiomiopatía amiloide hereditaria (hATTR-CM) sigue siendo un desafío para los portadores.

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Área de la Ciencia:

  • La genética
  • Cardiología
  • Salud de la población

Sus antecedentes:

  • La cardiomiopatía amiloide hereditaria (hATTR-CM) causada por la variante TTR V122I afecta a las personas de ascendencia africana, lo que lleva a la insuficiencia cardíaca.
  • La prevalencia y las tasas de diagnóstico de hATTR-CM en diversas poblaciones, incluidas las personas hispanas / latinas, no están bien establecidas.

Objetivo del estudio:

  • Investigar la asociación entre la variante TTR V122I y la insuficiencia cardíaca.
  • Determinar las tasas de diagnóstico de hATTR-CM entre los portadores de TTR V122I que tienen insuficiencia cardíaca.

Principales métodos:

  • Se realizaron análisis transversales y de casos y controles utilizando datos de dos grandes biobancos (Penn Medicine y Mount Sinai).
  • Los registros electrónicos de salud de individuos de ascendencia africana e hispana / latina de 50 años o más fueron analizados para el estado de portador de TTR V122I y el diagnóstico de insuficiencia cardíaca.
  • El estudio comparó las tasas de insuficiencia cardíaca entre portadores y no portadores y evaluó el tiempo hasta el diagnóstico de hATTR-CM.

Principales resultados:

  • La variante TTR V122I se asoció significativamente con el aumento de las tasas de insuficiencia cardíaca tanto en las poblaciones africanas (OR ajustado, 1.7) como en las hispanas/latinas (OR ajustado, 1.8).
  • Entre los portadores de TTR V122I con insuficiencia cardíaca, solo el 11% recibió un diagnóstico de hATTR-CM, con un retraso de diagnóstico medio de 3 años.
  • La hipertensión y los antecedentes de infarto de miocardio o revascularización coronaria fueron comorbilidades comunes en las cohortes del estudio.

Conclusiones:

  • La variante genética TTR V122I es un factor de riesgo significativo para la insuficiencia cardíaca en individuos de ascendencia africana e hispana / latina.
  • Existe un subdiagnóstico sustancial de hATTR-CM entre los portadores, lo que pone de relieve una brecha crítica en el reconocimiento clínico y el diagnóstico oportuno.