{"id":107699,"date":"2011-01-04T00:00:00","date_gmt":"2011-01-04T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/correlacion-genotipo-fenotipo-en-una-poblacion-con-miocardiopata%c2%ada-hipertrofica-portadora-de-una-identica-mutacion-en-el-gen-mybpc3\/"},"modified":"2011-01-04T00:00:00","modified_gmt":"2011-01-04T00:00:00","slug":"correlacion-genotipo-fenotipo-en-una-poblacion-con-miocardiopata%c2%ada-hipertrofica-portadora-de-una-identica-mutacion-en-el-gen-mybpc3","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/patologia-clinica\/correlacion-genotipo-fenotipo-en-una-poblacion-con-miocardiopata%c2%ada-hipertrofica-portadora-de-una-identica-mutacion-en-el-gen-mybpc3\/","title":{"rendered":"Correlaci\u00f3n genotipo-fenotipo en una poblaci\u00f3n con miocardiopat\u00eda hipertr\u00f3fica portadora de una id\u00e9ntica mutaci\u00f3n en el gen mybpc3."},"content":{"rendered":"<h2>Tesis doctoral de <strong> M\u00aa Jose Oliva Sandoval <\/strong><\/h2>\n<p>Las mutaciones en el gen de la prote\u00edna c de uni\u00f3n a la miosina (mybpc3) son una causa frecuente de miocardiopat\u00eda hipertr\u00f3fica (mch). Se dispone de pocos estudios que analicen la relaci\u00f3n genotipo-fenotipo y la mayor\u00eda cuentan con series peque\u00f1as de pacientes. el objetivo del trabajo es determinar las caracter\u00edsticas cl\u00ednicas, penetrancia y pron\u00f3stico de pacientes con mch portadores de una id\u00e9ntica mutaci\u00f3n en el gen mybpc3 (ivs23+1 g&gt;a). entre 1\/03\/2003 al 1\/10\/2006 se estudiaron 147 pacientes consecutivos no emparentados con diagn\u00f3stico de mch (55(18) a\u00f1os, 63,9% varones). A todos los pacientes se les realiz\u00f3 estudio cardiol\u00f3gico completo y estudio gen\u00e9tico. Se ofreci\u00f3 estudio a familiares de primer grado. En 16 (10,9%) probandos se identific\u00f3 una id\u00e9ntica mutaci\u00f3n en el gen mybpc3 (ivs23+1g&gt;a). a partir de los 16 probandos iniciales se estudiaron 115 individuos (7,2 individuos\/familia). Se identificaron 57 portadores de la mutaci\u00f3n ivs23+1 g&gt;a en el gen mybpc3, de los que el 61,4% (42,6(13,7) a\u00f1os, 68,6% varones) cumpl\u00edan criterios diagn\u00f3sticos de mch. La penetrancia de la enfermedad result\u00f3 edad dependiente (a los 45 a\u00f1os el 50% estaban afectados) con tendencia a una afectaci\u00f3n m\u00e1s precoz en el sexo masculino. 7 (16,7%) pacientes, todos varones, presentaron disfunci\u00f3n sist\u00f3lica. La presencia de la mutaci\u00f3n descrita en los probandos en comparaci\u00f3n con el resto de casos \u00edndices (portadores de otras mutaciones o sin mutaci\u00f3n identificada) se relacion\u00f3 con mayor hipertrofia y menor edad al diagn\u00f3stico. Hubo 14 casos de muerte s\u00fabita (ms) en 10 de las familias portadoras de la mutaci\u00f3n. La supervivencia libre de ms fue menor en el grupo con la mutaci\u00f3n frente al grupo sin mutaciones, aunque la diferencia no alcanz\u00f3 la significaci\u00f3n estad\u00edstica (supervivencia a los 40 a\u00f1os del 86,2%, ic95%: 75,7%-96,7% vs 90,5%, ic95%: 86,2%-94,7%) (log rango: p=0,07). La supervivencia del grupo con otras mutaciones fue del 92,6% (ic95%:82,4%-100%). se concluye que la mutaci\u00f3n ivs23+1g&gt;a en el gen mybpc3 se asocia con inicio de la enfermedad a una edad media y con mal pron\u00f3stico, con una significativa proporci\u00f3n de pacientes que desarrolla disfunci\u00f3n sist\u00f3lica y alto riesgo de ms.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Correlaci\u00f3n genotipo-fenotipo en una poblaci\u00f3n con miocardiopat\u00eda hipertr\u00f3fica portadora de una id\u00e9ntica mutaci\u00f3n en el gen mybpc3.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Correlaci\u00f3n genotipo-fenotipo en una poblaci\u00f3n con miocardiopat\u00eda hipertr\u00f3fica portadora de una id\u00e9ntica mutaci\u00f3n en el gen mybpc3. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 M\u00aa Jose Oliva Sandoval <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Murcia<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 01\/04\/2011<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3>Direcci\u00f3n y tribunal<\/h3>\n<ul>\n<li><strong>Director de la tesis<\/strong>\n<ul>\n<li>Gonzalo De La Morena Valenzuela<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Juan  Antonio Ruiperez abizanda <\/li>\n<li>lorenzo Monserrat iglesias (vocal)<\/li>\n<li>Mar\u00eda  evarista Gonzalez caballero (vocal)<\/li>\n<li>Francisco Ruiz espejo (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de M\u00aa Jose Oliva Sandoval Las mutaciones en el gen de la prote\u00edna c de uni\u00f3n a la 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