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MIOCARDIOPATIA HIPERTROFICA: A QUIENES Y CUANDO PRACTICAR UN ANALISIS GENETICO MOLECULAR

MIOCARDIOPATIA HIPERTROFICA: A QUIENES Y CUANDO PRACTICAR UN ANALISIS GENETICO MOLECULAR

(especial para SIIC © Derechos reservados)
Para la mayoría de las mutaciones implicadas en la miocardía hipertrófica no se puede derivar un comportamiento clínico definido, algo que se podía suponer si se tiene en cuenta que las manifestaciones de esta enfermedad son heterogéneas, incluso entre los afectados de una misma familia.
Autor:
Eliecer Coto García
Columnista Experto de SIIC

Institución:
Hospital Central de Asturias


Artículos publicados por Eliecer Coto García
Coautores
Mónica García Castro* José Julian Rodríguez Reguero** 
Doctor en Biología, Hospital Central de Asturias, Oviedo, España*
Doctor en Medicina, Cardiologo, Hospital Central de Asturias, Oviedo, España**
Recepción del artículo
29 de Septiembre, 2008
Aprobación
22 de Noviembre, 2008
Primera edición
18 de Marzo, 2009
Segunda edición, ampliada y corregida
7 de Junio, 2021

Resumen
La miocardiopatía hipertrófica (MCH) es una enfermedad frecuentemente hereditaria, causada por mutaciones en varios genes implicados en el funcionamiento del sarcómero cardíaco. Aunque hay más de 12 genes en los que se han hallado mutaciones, la mayoría de los pacientes o sus familias tienen una mutación en el gen MYH7, MYBPC3, TNNT2, TNNI3, o TPM1. Dado que los parámetros clínico-patológicos tienen una capacidad limitada para predecir los efectos adversos, se ha investigado la posibilidad de emplear los hallazgos genéticos con este fin (por ejemplo, para predecir el riesgo de muerte súbita) y en la toma de decisiones terapéuticas. Actualmente, podemos concluir que para la mayoría de las mutaciones no se puede derivar un comportamiento clínico definido, algo que se podía suponer si consideramos que las manifestaciones de la MCH son heterogéneas, incluso entre los afectados de una misma familia. En este artículo revisamos los aspectos fundamentales de los análisis moleculares con fines diagnósticos en la MCH y las posibilidades de aplicar los hallazgos genéticos en la toma de decisiones.

Palabras clave
miocardiopatía hipertrófica, análisis genético, enfermedad heredable, riesgo, miocardiopatía hipertrófica, genes sarcoméricos, mutaciones, asesoramiento genético


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Abstract
Hypertrophic cardiomyopathy (HCM) is caused by mutations in genes that encode proteins of the cardiac sarcomere. More than 12 genes have been implicated in HCM, and most of the patients/families have a mutation in the MYH7, MYBPC3, TNNT2, TNNI3, or TPM1 genes. Clinical and echocardiographic values have a limited capacity to predict the adverse events in HCM patients (such as sudden death). The possibility of using the genetic information from each patient to predict the clinical course of HCH has been investigated by several groups worldwide. The combination of clinical data, echocardiographic findings and molecular genetic testing could help to take decisions in the management of HCM patients. However, we can conclude that for most of the mutations it is not possible to predict the clinical course of the disease. In this article, we review the basic aspects of the genetics of MCH, and the possibility of applying the genetic findings to improve the treatment of these patients.

Key words
hypertrophic cardiomyopathy, hypertrophic myocardiopathy, sarcomeric genes, genetic analysis, mutations, inherited disease, genetic counseiling, risk


Clasificación en siicsalud
Artículos originales > Expertos de Iberoamérica >
página   www.siicsalud.com/des/expertocompleto.php/

Especialidades
Principal: Cardiología
Relacionadas: Bioquímica, Cuidados Intensivos, Genética Humana, Geriatría, Medicina Deportiva, Medicina Interna, Pediatría



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Enviar correspondencia a:
Eliecer Coto García, Hospital Central de Asturias Genética Molecular y Cardiología, 33006, Oviedo, España
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