Sindrome de Marfan ; Por: Ricardo Mora Moreno MAECO (medico en adiestramiento ecocardiografico), IMSS CMN SS XXI, Hospital de Cardiología, CDMX, 29 de Agosto del 2019
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Sindrome de marfan
1. Instituto Mexicano del Seguro Social
Centro Médico Nacional Siglo XXI
Hospital de Cardiología
Servicio de Ecocardiografía CMN Siglo XXI
“Síndrome de Marfan”
Dr. Ricardo Mora Moreno (MAECO)
Ciudad de México
29/ Agosto / 2019
2. Sx Marfan: Epidemiología
• Trastorno del tejido conectivo
• Condición Autosómica dominante
• Incidencia 1 en 3,000-5,000 habitantes
•Ramirez F, Godfrey M, Lee B, et al.. Marfan syndrome and related disorders. In: The Metabolic and Molecular Basis of Inherited Disease, Scriver CR, Beaudet AL, Sly WS, et
al. (Eds), McGraw Hill, New York 1995. p.4079.
•Judge DP, Dietz HC. Marfan's syndrome. Lancet 2005; 366:1965.
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3. Sx Marfan: Genética
• Condición Autosómica dominante
• Afección Gen FBN-1 (15q-21.1) encargado de la proteína fibrilina-1
• 10% de los casos sin mutación del FBN-1
• Smallridge RS, Whiteman P, Doering K, et al. EGF-like domain calcium affinity modulated by N-terminal domain linkage in human fibrillin-1. J Mol Biol 1999;
286:661.
• Sinha S, Nevett C, Shuttleworth CA, Kielty CM. Cellular and extracellular biology of the latent transforming growth factor-beta binding proteins. Matrix Biol
1998; 17:529.
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4. Sx Marfan: Histopatología
• Afección de la capa media de la raíz aortica:
Fragmentación de la lamina elástica
Necrosis quística de la capa media
Fibrosis
Perdida de células musculares lisas
• Schlatmann TJ, Becker AE. Pathogenesis of dissecting aneurysm of aorta. Comparative histopathologic study of significance of medial changes. Am J Cardiol
1977; 39:21.
• Hirst AE, Gore I. Editorial: Is cystic medionecrosis the cause of dissecting aortic aneurysm? Circulation 1976; 53:915.
• Trotter SE, Olsen EG. Marfan's disease and Erdheim's cystic medionecrosis. A study of their pathology. Eur Heart J 1991; 12:83.
• Collins MJ, Dev V, Strauss BH, et al. Variation in the histopathological features of patients with ascending aortic aneurysms: a study of 111 surgically excised
cases. J Clin Pathol 2008; 61:519.
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5. 2010 Revised Ghent Nosology for Marfan syndrome
Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010; 47:476.
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6. 2010 Revised Ghent Nosology for Marfan syndrome
Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet 2010; 47:476.
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13. Sx Marfan: Aorta
Enfermedad
Raíz Aortica
Dilatación
aneurismática
Regurgitación
Aortica
Disección
Aortica
Jeremy RW, Huang H, Hwa J, et al. Relation between age, arterial distensibility, and aortic dilatation in the Marfan syndrome. Am J Cardiol 1994; 74:369.
Adams JN, Brooks M, Redpath TW, et al. Aortic distensibility and stiffness index measured by magnetic resonance imaging in patients with Marfan's syndrome. Br Heart J 1995;
73:265.
Groenink M, de Roos A, Mulder BJ, et al. Biophysical properties of the normal-sized aorta in patients with Marfan syndrome: evaluation with MR flow mapping. Radiology 2001;
219:535.
Jondeau G, Boutouyrie P, Lacolley P, et al. Central pulse pressure is a major determinant of ascending aorta dilation in Marfan syndrome. Circulation 1999; 99:2677.
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15. Sx Marfan: Aorta
• Dilatación aortica aproximadamente en 50% en niños con Marfan y avanza
progresivamente
• Dilatación raíz aortica 60-80% de adultos con Marfan, acompañado de
regurgitación aortica
• Ecocardiograma de control cada 6 meses para confirmar estabilidad de la
dimensiones aorticas
• Control anual con estudios de imagen para valorar aorta ascendente
(TAC/RM)
Hiratzka LF, Bakris GL, Beckman JA, et al. 2010 ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM guidelines for the diagnosis and management of patients with Thoracic Aortic
Disease: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines, American Association for Thoracic Surgery, American
College of Radiology, American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional
Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Circulation 2010; 121:e266.
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16. Sx Marfan: afección cardiaca
• Prolapso valva mitral, presente en Sx Marfan 40-54%
• Incidencia aumenta con la edad del paciente
• Incidencia: Mujer > Hombre
• Valvas elongadas y apariencia redundante
• Insuficiencia mitral leve o minima
• Deterioro de IM secundaria a ruptura de cuerda tendinosa o
endocarditis
• Prolapso de valva tricúspidea también puede estar presente
• Rybczynski M, Mir TS, Sheikhzadeh S, et al. Frequency and age-related course of mitral valve dysfunction in the Marfan syndrome. Am J Cardiol 2010; 106:1048.
• Faivre L, Collod-Beroud G, Loeys BL, et al. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and
FBN1 mutations: an international study. Am J Hum Genet 2007; 81:454.
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