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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.

• Incidencia reportada de 1 en 3000

a 5000 individuos.

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.

• Pruebas genéticas prenatales.

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.

• La capa media de la raíz aórtica:

• Fragmentación de las laminillas

elásticas.

• Necrosis quística medial, fibrosis.

• Pérdida de células del músculo liso.

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

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

Pectus carinatum Pectus excavatum • Signos de Steinberg y Walker-Murdoch

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

Aracnodactilia Cifosis o escoliosis.

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
• 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
 ´
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).

Bolos Golf Skating

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.

• Bloqueador del receptor de angiotensina.

• Evitar bloqueadores de canales de calcio.

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.