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Vol. 7. Núm. F.
Enfoque traslacional de la insuficiencia cardiaca: del gen al paciente y a la población
Páginas 2F-13F (Octubre 2007)
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Vol. 7. Núm. F.
Enfoque traslacional de la insuficiencia cardiaca: del gen al paciente y a la población
Páginas 2F-13F (Octubre 2007)
Enfoque traslacional de la insuficiencia cardiaca
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Avances en miocardiopatía dilatada idiopática: del genotipo al fenotipo clínico
Progress in Idiopathic Dilated Cardiomyopathy: From Genotype to Clinical Phenotype
Visitas
...
Lorenzo Monserrat1,2,??
Autor para correspondencia
lorenzo_monserrat@canalejo.org

Correspondencia: Dr. L. Monserrat Iglesias. Servicio de Cardiología. CHU Juan Canalejo. As Xubias, 84. 15006 A Coruña. España.
, Manuel Hermida-Prieto1,2, Alfonso Castro-Beiras1,2
1 Complejo Hospitalario Universitario Juan Canalejo. A Coruña. España
2 Instituto de Ciencias de la Salud de la Universidad de A Coruña. España
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La miocardiopatía dilatada idiopática es una enfermedad familiar en un 30-50% de los casos. Hasta el momento se han identificado mutaciones asociadas con esta enfermedad en más de 25 genes diferentes, relacionados con proteínas del citoesqueleto, el sarcómero, las uniones intercelulares, la membrana nuclear, los canales iónicos y las proteínas mitocondriales. Los estudios de correlación entre genotipo y fenotipo muestran que ciertas características clínicas, como la presencia de trastornos de la conducción, miopatía esquelética o hipertrabeculación, pueden orientar hacia la causa genética de la enfermedad. Por otra parte, mutaciones en los mismos genes pueden tener una expresión clínica muy variable y asociarse con diferentes fenotipos, como miocardiopatía hipertrófica, restrictiva, falta de compactación, displasia arritmogénica del ventrículo derecho o miopatía esquelética. Aunque los estudios genéticos no son una práctica habitual en la miocardiopatía dilatada, disponemos ya de conocimientos y tecnología suficiente para comenzar a utilizarlos. Para ello es esencial la colaboración entre investigación básica y clínica. Los médicos responsables del tratamiento de los pacientes con miocardiopatía dilatada deben aproximarse a la genética y participar en la investigación clínica con su propio conocimiento sobre la enfermedad. En esta revisión intentamos proporcionar a los clínicos los conceptos fundamentales para conocer la situación actual de la genética de la miocardiopatía dilatada y comprender su utilidad, sus ventajas y sus limitaciones. La utilidad práctica de la genética es ya una realidad en las miocardiopatías y debemos hacer un esfuerzo para que los pacientes se beneficien del avance en el conocimiento.

Palabras clave:
Miocardiopatía dilatada
Genética
Mutación
Abreviaturas:
AND
ARN
CK
DAVD
ECG
MCD
MCH

In 30-50% of cases, idiopathic dilated cardiomyopathy is a familial disease. To date, mutations associated with the disease have been identified in more than 25 different genes, which are associated with proteins belonging to the cytoskeleton, sarcomeres, intercellular junctions, the nuclear membrane, and ion channels, and with mitochondrial proteins. Studies on correlations between genotype and phenotype have shown that certain clinical characteristics, such as the presence of conduction disturbances, skeletal myopathy, or hypertrabeculation, indicate that the disease may have a genetic origin. On the other hand, mutations in the same genes can have a very variable clinical expression and may be associated with different phenotypes, such as hypertrophic, restrictive, and noncompaction cardiomyopathy, arrhythmogenic right ventricular dysplasia, and skeletal myopathy. Although genetic investigations are not carried out routinely for dilated cardiomyopathy, both the knowledge and techniques needed to make use of them are already available. To do so requires a combination of preclinical and clinical research. The physicians responsible for treating patients with dilated cardiomyopathy should familiarize themselves with genetics and participate in clinical research by using their knowledge of the disease. The aim of this review was to provide clinicians with the fundamental concepts needed to gain an insight into current understanding of the genetics of dilated cardiomyopathy and to appreciate its usefulness, value and limitations. The practical application of genetics to cardiomyopathy is already a reality. We should make an effort to ensure that patients benefit from advances in understanding.

Key words:
Dilated Cardiomyopathy
Genetics
Mutation
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Lorenzo Monserrat recibe financiación de una ayuda a la investigación de la Fundación Sanofi-Aventis.

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