Publication: Análisis coste-efectividad del diagnóstico genético en la miocardiopatía arritmogénica
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2018-11-27
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Universidad Complutense de Madrid
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Abstract
La miocardiopatía arritmogénica (MA) es una enfermedad del músculo cardiaco caracterizada por la aparición de arritmias ventriculares que se pueden manifestar como muerte súbita y que frecuentemente debuta en la adolescencia y juventud. La sustitución de miocardio por tejido fibroadiposo es la base de su patogenia y su etiología frecuentemente es genética, principalmente por mutaciones en genes que codifican las proteínas desmosómicas de las uniones intercelulares. Esta infiltración fibroadiposa puede afectar predominantemente al ventrículo derecho con o sin afectación izquierda o puede afectar predominantemente al ventrículo izquierdo, en cuyo caso el diagnóstico diferencial puede ser más complicado.Hasta en un 70% de los casos se trata de una enfermedad que afecta a varios miembros de una misma familia, con un patrón de herencia autosómico dominante, por lo que ante el diagnóstico de un caso índice se recomienda el estudio de todos los familiares de primer grado. Sin embargo, el diagnóstico familiar basado exclusivamente en estudios de fenotipo se ve dificultado por fenómenos de penetrancia incompleta, expresividad variable y expresividad dependiente de la edad, lo que implica que en muchos casos el seguimiento de los familiares en riesgo de padecer la enfermedad se deba prolongar casi de por vida...
Arrhythmogenic cardiomyopathy (AC) is a disease of the heart muscle characterized by the appearance of ventricular arrhythmias that can manifest as sudden death and that frequently debuts during adolescence and youth. The replacement of myocardium by fibroadipose tissue is the basis of its pathogenesis and its etiology is often genetic, mainly by mutations in genes coding for desmosomal proteins of the intercellular junctions. This infiltration may predominantly affect the right ventricle with or without left ventricular involvement or may predominantly affect the left ventricle, then differential diagnosis may be more complicated.In 70% of all cases, it affects several relatives in the same family, with an autosomal dominant inheritance pattern, so that after the diagnosis of an index case, the study of all relatives of first grade should be rulled-out. However, family diagnosis based exclusively on phenotype studies is hampered by phenomena of incomplete penetrance, variable expressiveness and age-dependent penetrance, which means that in many cases of family members at risk the follow-up is nearly long-life...
Arrhythmogenic cardiomyopathy (AC) is a disease of the heart muscle characterized by the appearance of ventricular arrhythmias that can manifest as sudden death and that frequently debuts during adolescence and youth. The replacement of myocardium by fibroadipose tissue is the basis of its pathogenesis and its etiology is often genetic, mainly by mutations in genes coding for desmosomal proteins of the intercellular junctions. This infiltration may predominantly affect the right ventricle with or without left ventricular involvement or may predominantly affect the left ventricle, then differential diagnosis may be more complicated.In 70% of all cases, it affects several relatives in the same family, with an autosomal dominant inheritance pattern, so that after the diagnosis of an index case, the study of all relatives of first grade should be rulled-out. However, family diagnosis based exclusively on phenotype studies is hampered by phenomena of incomplete penetrance, variable expressiveness and age-dependent penetrance, which means that in many cases of family members at risk the follow-up is nearly long-life...
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Tesis de la Universidad Complutense de Madrid, Facultad de Medicina, Departamento de Medicina, leída el 10-07-2017