SX Marfan
SX Marfan
SX Marfan
SINDROME DE MARFAN.
FISIOPATOLOGIA III
Estefania Nava Matamoros.
Sandra E. Hernandez Torres.
INDICE.
• Introducción.
• Genética.
• Histopatología.
• Patogénesis.
• Manifestaciones clínicas.
• Criterios diagnósticos.
• Diagnóstico diferencial.
• Monitorización Aórtica.
• Fármaco terapia.
• Tratamiento para otras complicaciones.
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INTRODUCCIoN
• Transtorno hereditario del tejido
conectivo.
• Multisistémico.
• Autosómico dominante.
Michael J Wright, MBChB, MScHeidi M Connolly. Genetics, clinical features, and diagnosis of Marfan syndrome and related disorders. UpToDate. Nov 02, 2016.
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GENETICA.
• Gen FBN1.
• 25% MFS Novo.
• 1991-Mutación de FBN1.
• Mutaciones de TGFBR1/ TGFBR2.
• Síndrome de Loeys-Dietz.
Michael J Wright, MBChB, MScHeidi M Connolly. Genetics, clinical features, and diagnosis of Marfan syndrome and related disorders. UpToDate. Nov 02, 2016.
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HISTOPATOLOGiA.
Michael J Wright, MBChB, MScHeidi M Connolly. Genetics, clinical features, and diagnosis of Marfan syndrome and related disorders. UpToDate. Nov 02, 2016.
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PATOGeNESIS.
Aún no se entiende como FBN1 Y el
TGFB1 pueden conducir a la enfermedad
pero hay mecanismos propuestos. Homeostasis
Respuesta a
Morfogénesis estrés
tisular hemodinámico
Papel
estructural
de las
microfibrillas
Michael J Wright, MBChB, MScHeidi M Connolly. Genetics, clinical features, and diagnosis of Marfan syndrome and related disorders. UpToDate. Nov 02, 2016.
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PATOGeNESIS.
Aumento de la biodisponibilidad del factor de crecimiento transformante beta.
(2014)
Michael J Wright, MBChB, MScHeidi M Connolly. Genetics, clinical features, and diagnosis of Marfan syndrome and related disorders. UpToDate. Nov 02, 2016.
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Manifestaciones ClINICAS
• Alteraciones Cardiacas.
Michael J Wright, MBChB, MScHeidi M Connolly. Genetics, clinical features, and diagnosis of Marfan syndrome and related disorders. UpToDate. Nov 02, 2016.
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Manifestaciones ClINICAS
• Alteraciones oculares: ectopia lentis, iridodonesis
Michael J Wright, MBChB, MScHeidi M Connolly. Genetics, clinical features, and diagnosis of Marfan syndrome and related disorders. UpToDate. Nov 02, 2016.
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Manifestaciones ClINICAS
• Sistema Esquelético
Michael J Wright, MBChB, MScHeidi M Connolly. Genetics, clinical features, and diagnosis of Marfan syndrome and related disorders. UpToDate. Nov 02, 2016.
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Manifestaciones ClINICAS
• Sistema Esquelético
Michael J Wright, MBChB, MScHeidi M Connolly. Genetics, clinical features, and diagnosis of Marfan syndrome and related disorders. UpToDate. Nov 02, 2016.
´
Manifestaciones ClINICAS
• Sistema Esquelético
Michael J Wright, MBChB, MScHeidi M Connolly. Genetics, clinical features, and diagnosis of Marfan syndrome and related disorders. UpToDate. Nov 02, 2016.
´
Manifestaciones ClINICAS
• Alteraciones faciales: dolicocefalia y enoftalmos
Michael J Wright, MBChB, MScHeidi M Connolly. Genetics, clinical features, and diagnosis of Marfan syndrome and related disorders. UpToDate. Nov 02, 2016.
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CRITERIOS DIAGNOSTICOS.
• Nosología de Gante.
• Aneurisma de la raíz aórtica/ Ectopia lentis.
Fernando Cabrera Buenoa, Pastora Gallego García De Vinuesab, Arturo Evangelista Masipc.. New diagnostic criteria for Marfan syndrome.. ELSEVIER..20 mayo 2011
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CRITERIOS DIAGNOSTICOS.
Sabiha Gati, José Aragón, Rachel Bastiaenen..Cardiovascular Management Of Adults With Marfan Syndrome.. European Cardiology Review.. Dec 2016
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DIAGNOSTICO Diferencial.
• MASS:
• Síndrome de Loeys-Dietz.
• Homocistinuria.
• Aracnodactilia contractural congénita.
• Ehlers Danlos.
Michael J Wright, MBChB, MScHeidi M Connolly. Genetics, clinical features, and diagnosis of Marfan syndrome and related disorders. UpToDate. Nov 02, 2016.
MONITORIZACION AORTICA Y RESTRICCION DE
ACTIVIDAD RÁPIDA
• Se recomienda el monitoreo del diámetro aórtico para identificar a los
pacientes con alto riesgo de disección aórtica. (ECOCARDIOGRAFÍA).
Bicicleta
Snorkeling
Estacionaria
Michael J Wright, MBChB, MScHeidi M Connolly..Management of Marfan syndrome and related disorders. UpToDate. Sep 28, 2016.
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FARMACO TERAPIA.
• B- bloqueadores.
Michael J Wright, MBChB, MScHeidi M Connolly..Management of Marfan syndrome and related disorders. UpToDate. Sep 28, 2016.
OTRAS COMPLICACIONES.
• Tratamiento quirúrgico.
• Injerto de Stent.
• Prevenir ambliopia.
Michael J Wright, MBChB, MScHeidi M Connolly..Management of Marfan syndrome and related disorders. UpToDate. Sep 28, 2016.
BIBLIOGRAFIAS.
1.Ramirez F, Godfrey M, Lee B, et al.. Marfan syndrome a
nd related disorders. In: The Metabolic and Molecular Bas
is of Inherited Disease, Scriver CR, Beaudet AL, Sly WS,
“ 5. Michael J Wright, MBChB, MScHeidi M Connolly..Mana
gement of Marfan syndrome and related disorders. UpTo
et al. (Eds), McGraw Hill, New York 1995. p.4079. Date. Sep 28, 2016.
2.Judge DP, Dietz HC. Marfan's syndrome. Lancet 2005; 6. The Marfan Foundaton:
366:1965. http://www.marfan.org/dx/diagnosis
Gott VL, Greene PS, Alejo DE, et al. Replacement of the
aortic root in patients with Marfan's syndrome. N Engl J 7. Fernando Cabrera Buenoa, Pastora Gallego García De
Med 1999; 340:1307. Vinuesab, Arturo Evangelista Masipc.. New diagnostic
criteria for Marfan syndrome.. ELSEVIER..20 mayo 2011
3.Finkbohner R, Johnston D, Crawford ES, et al. Marfan
syndrome. Long-term survival and complications after 8. Sabiha Gati, José Aragón, Rachel
aortic aneurysm repair. Circulation 1995; 91:728. Bastiaenen..Cardiovascular Management Of Adults With
Marfan Syndrome.. European Cardiology Review.. Dec
4. Michael J Wright, MBChB, MScHeidi M Connolly. 2016
Genetics, clinical features, and diagnosis of Marfan
syndrome and related disorders. UpToDate. Nov 02,
2016.