Dra. Maribe Ll Navarr Oo Ruíz Título

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Dra. Maribe Ll Navarr Oo Ruíz Título Universidad de Ciencias Médicas de Villa Clara Facultad de Medicina Hospital Gineco Obstétrico Universitario Mariana Grajales TESIS EN OPCIÓN AL GRADO CIENTÍFICO DE DOCTOR EN CIENCIAS MÉDICAS Título: Título: EEstuuddioo clínico, epideemmiioollóógiico yy eettiioopatooggénico dee llaas carrddiioopatííaass conggéénnitas enn Viillllaa CCllaara.. Auttoor: DDrraa. Mariibbeell NNaavvaarrroo Ruíz Santa Clara 2013 Universidad de Ciencias Médicas de Villa Clara Facultad de Medicina Hospital Gineco Obstétrico Universitario Mariana Grajales TESIS EN OPCIÓN AL GRADO CIENTÍFICO DE DOCTOR EN CIENCIAS MÉDICAS TTítulloo:: Essttuudiio ccllíínniiccoo,, eeppiiddemiológgiiccoo y etioppaattogéénniiccoo dde laass ccaardioppaattíass coonggéénniittas eenn Viillllaa Cllara Autor: Dra. Maribel Navarro Ruíz Tutor: Prof. Tit. Manuela Herrera Martínez, Dra. C Asesor: Prof. Tit. Lic. Ricardo Grau Abalo, Dr. C Santa Clara 2013 .... Lo que da al hombre el poder no es ese mero conocimiento que viene del uso de los sentidos si no ese otro conocimiento más profundo que se llama ciencia.... José Martí A mis hijos: que transforman en ternura el cansancio de cada día A todos los recién nacidos que en estos momentos están brotando húmedos y gimientes del vientre de sus madres A todos aquellos: que de una forma u otra han contribuido a nuestra formación y a la culminación de este trabajo, quiero retribuirles sin límites el esfuerzo empeñado A nuestra revolución: que nos dio la oportunidad de formarnos como médicos y futuros especialistas A mi esposo: que con su amor y comprensión hizo más tolerables algunos momentos difíciles A la Doctora Manuela Herrera Martínez: por su calidad humana, y ejemplo de profesionalismo, por su apoyo incondicional en la culminación de este trabajo, sin lo cual, no hubiera sido posible A mis padres: quienes con muchas dificultades, esfuerzo y cariño, supieron guiarme y lograr que me graduara como médico A mi hermano: por haber seguido mi camino Al doctor Ricardo Grau Abalo: por su inestimable ayuda A las arquitectas Omaida Molerio Pérez, y Tania García Pino por su gran apoyo. A los profesores del servicio de neonatología: quienes participaron especialmente en mi formación de postgrado Al colectivo de trabajo del servicio de neonatología: a cuya ayuda debo la oportunidad de contribuir al mejor cuidado del recién nacido A la dirección del decanato de la facultad de medicina de laUCM de VC, dirección del Hospital Gineco-Obstétrico Mariana Grajales y la jefatura del servicio de neonatología, por el tiempo ofrecido para trabajar en este proyecto A los trabajadores de la Biblioteca Nacional del CITMA, departamentos de Anatomía patológica y Estadística del Hospital, y de la dirección provincial de salud en VC, por la ayuda brindada. A los trabajadores de la Empresa de Proyectos en VC por la colaboración ofrecida A todos, mi más sincero agradecimiento Essttudiio cllííniico - epidemiollógiico y ettiopattogéniico de llass cardiiopattííass congéniittass Índice Síntesis Listado de Abreviaturas Introducción Actualidad del trabajo------------------------------------------------------------------------------------1 Fundamentación-------------------------------------------------------------------------------------------4 Objeto de estudio------------------------------------------------------------------------------------------5 Campo de acción------------------------------------------------------------------------------------------5 Problema de salud----------------------------------------------------------------------------------------5 Problema científico----------------------------------------------------------------------------------------5 Hipótesis-----------------------------------------------------------------------------------------------------6 Objetivos-----------------------------------------------------------------------------------------------------6 Novedad científica ----------------------------------------------------------------------------------------6 Aportes prácticos------------------------------------------------------------------------------------------7 Aportes teóricos -------------------------------------------------------------------------------------------7 Volumen y estructura de la tesis ----------------------------------------------------------------------8 Capítulo 1: Cardiopatías congénitas. Actualización. 1.1 Concepto ----------------------------------------------------------------------------------------------9 1.2 Clasificación------------------------------------------------------------------------------------------- 9 1.3 Incidencia-----------------------------------------------------------------------------------------------9 1.4 Causas de las cardiopatías congénitas-------------------------------------------------------10 1.4.1 Causas genéticas-------------------------------------------------------------------------------- 10 1.4.1.1 Anomalías cromosómicas y cardiopatías congénitas --------------------------------11 1.4.1.2 Defectos del gen único y cardiopatías congénitas----------------------------------- 11 1.4.1.3 Síndromes por microdelecciones y cardiopatías congénitas-----------------------12 1.4.1.4 Causas mitocondriales y cardiopatías congénitas------------------------------------12 1.4.1.5 Factores multifactoriales y cardiopatías congénitas----------------------------------12 1.4.2 Otros factores de riesgo genético------------------------------------------------------------12 1.4.3 Causas ambientales y cardiopatías congénitas------------------------------------------12 1.4.3.1 Factores biológicos----------------------------------------------------------------------------12 1.4.3.2 Factores químicos-----------------------------------------------------------------------------13 Essttudiio cllííniico - epidemiollógiico y ettiopattogéniico de llass cardiiopattííass congéniittass 1.4.3.3 Factores físicos-------------------------------------------------------------------------------- 13 1.4.3.4 Factores de riesgo por hábitos tóxicos---------------------------------------------------13 1.5 Mecanismos genéticos de las cardiopatías congénitas---------------------------------- 13 1.5.1Clasificación de las cardiopatías congénitas de acuerdo con el mecanismo genético y molecular------------------------------------------------------------------------------------13 1.6 Período crítico del desarrollo embrionario del aparato cardiovascular. Características generales----------------------------------------------------------------------------- 14 1.7 Corazón normal-------------------------------------------------------------------------------------15 1.8 Diagnóstico prenatal de las cardiopatías congénitas--------------------------------------16 1.8.1 Ecocardiografía fetal. Importancia y actualidad------------------------------------------ 16 1.8.2 Ecocardiografía Doppler fetal-----------------------------------------------------------------16 1.8.3 Otras técnicas diagnósticas en las cardiopatías congénitas. Actualidad--------- 17 1.8.3.1 Diagnóstico por la imagen------------------------------------------------------------------17 1.9 Avances en el control genético de la morfogénesis del corazón-----------------------18 1.10 Estado actual y perspectiva del diagnóstico prenatal de las cardiopatías congénitas en Cuba-------------------------------------------------------------------------------------20 1.11 Seguimiento de los neonatos con cardiopatías congénitas----------------------------20 1.12 Conclusiones parciales--------------------------------------------------------------------------21 Capítulo 2: Materiales y métodos utilizados en la investigación 2.1 Contexto de la investigación---------------------------------------------------------------------22 2.2 Metodología general de la investigación------------------------------------------------------22 2.2.1 Métodos teóricos--------------------------------------------------------------------------------- 22 2.2.2 Métodos del nivel empírico empleados-----------------------------------------------------22 2.2.3 Tipo y diseño general del estudio------------------------------------------------------------23 2.2.4 Población y universo del estudio-------------------------------------------------------------23 2.2.4.1 Criterios de inclusión--------------------------------------------------------------------------23 2.2.4.2 Criterios de exclusión-------------------------------------------------------------------------23 2.2.5 Métodos y fuentes empleadas en la recolección del dato primario -----------------23 2.3 Técnicas y procedimientos del estudio de prevalencia, clínico y de supervivencia de las cardiopatías congénitas----------------------------------------------------24 2.3.1Población--------------------------------------------------------------------------------------------24 2.3.2 Muestra ---------------------------------------------------------------------------------------------24 Essttudiio cllííniico - epidemiollógiico y ettiopattogéniico de llass cardiiopattííass congéniittass 2.3.3 Variables empleadas en el estudio de prevalencia y metodología empleada----25 2.3.4 Variables empleadas en el estudio clínico y metodología empleada---------------25 2.3.5 Variables que evalúan los resultados del seguimiento clínico de los niños nacidos con cardiopatías congénitas y metodología empleada------------------------------26 2.3.6 Variables que evalúan supervivencia de los nacidos vivos con cardiopatías congénitas y metodología empleada---------------------------------------------------------------26
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