Tom 13, Nr 2 (2018)
Kardiochirurgia
Opublikowany online: 2018-05-30
Wyświetlenia strony
875
Wyświetlenia/pobrania artykułu
2116
Choroby zastawki mitralnej w zespole Marfana
DOI: 10.5603/FC.2018.0035
Folia Cardiologica 2018;13(2):181-187.
Streszczenie
Zespół Marfana (MFS) to choroba spowodowana heterozygotycznymi mutacjami genu fibryliny 1 (FBN1). W tkankach dotkniętych mutacją dochodzi do nieprawidłowej aktywności czynnika transformującego wzrostu beta (TGF-β). Niedobór FBN1 i nadmierna aktywność TGF-β prowadzą do zaburzeń struktury tkanki łącznej, co skutkuje między innymi zmianami w budowie zastawek serca. Mimo że podstaw genetycznych i patogenezy chorób zastawki mitralnej (MV) w MFS do tej pory nie wyjaśniono, ostatnie badania na myszach pozwoliły zrozumieć mechanizmy leżące u podstawy zmian fenotypowych występujących w tym zespole. W artykule omówiono częstość występowania i patologie MV obserwowane w MFS. Przedstawiono również podstawy patogenezy zmian w obrębie MV oraz aktualne możliwości leczenia farmakologicznego i chirurgicznego. Poniższa praca stanowi również przegląd piśmiennictwa na temat tego zagadnienia.
Słowa kluczowe: zespół Marfanawypadanie płatka zastawki mitralnejleczenie
Referencje
- Chiu HH, Wu MH, Chen HC, et al. Epidemiological profile of Marfan syndrome in a general population: a national database study. Mayo Clin Proc. 2014; 89(1): 34–42.
- Williams E. Rare cases, with practical remarks. Trans Am Ophthalmol Soc. 1875; 2: 291–301.
- Marfan A. Un cas de déformation congénitgale des quatres membres, plus prononcée aux extremités, caractérisée par l'allongement des os avec un certain degré d'amincissiment. Bulletins et memoires de la Société medicale des hôpitaux de Paris. 1896; 13: 220–228.
- Ruettimann B, Steinmann BA. Marfan his life and times. Europ J Pediat. 1996; 155: 725–726.
- Baer RW, Taussig HB, Oppenheimer EH. Congenital aneurysmal dilatation of the aorta associated with arachnodactyly. Bull Hopkins Hosp. 1943; 72: 309–331.
- Etter LE, Glover LP. Arachnodactyly complicated by dislocated lens and death from rupture of dissecting aneurysm of the aorta. JAMA. 1943; 23: 88–89.
- Salle V. Uber einen Fall von angeborener Abnormalen grosse der Extrernitaten mit einem an Akromegalie erinnernden Symptomenkomplex. J ahrb f Kinderh. 1912; 75: 540–548.
- Baer RW, Taussig HB, Oppenheimer EH. Congenital aneurysmal dilatation of the aorta associated with arachnodactyly. Bulletin of the Johns Hopkins Hospital. 1943; 72: 309–317.
- McKusick VA. The cardiovascular aspects of Marfan's syndrome: a heritable disorder of connective tissue. Circulation. 1955; 11(3): 321–342.
- Bowers D, Bowers D. Primary abnormalities of the mitral valve in Marfan's syndrome. Electrocardiographic findings. Br Heart J. 1969; 31(6): 676–678.
- Loeys BL, Dietz HC, Braverman AC, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010; 47(7): 476–485.
- Barlow JB, Bosman CK. Aneurysmal protrusion of the posterior leaflet of the mitral valve. An auscultatory-electrocardiographic syndrome. Am Heart J. 1966; 71(2): 166–178.
- Bhudia SK, Troughton R, Lam BK, et al. Mitral valve surgery in the adult Marfan syndrome patient. Ann Thorac Surg. 2006; 81(3): 843–848.
- Pyeritz RE, Wappel MA. Mitral valve dysfunction in the Marfan syndrome. Clinical and echocardiographic study of prevalence and natural history. Am J Med. 1983; 74(5): 797–807.
- Taub CC, Stoler JM, Perez-Sanz T, et al. Mitral valve prolapse in Marfan syndrome: an old topic revisited. Echocardiography. 2009; 26(4): 357–364.
- Détaint D, Faivre L, Collod-Beroud G, et al. Cardiovascular manifestations in men and women carrying a FBN1 mutation. Eur Heart J. 2010; 31(18): 2223–2229.
- Morse RP, Rockenmacher S, Pyeritz RE, et al. Diagnosis and management of infantile Marfan syndrome. Pediatrics. 1990; 86(6): 888–895.
- Sisk HE, Zahka KG, Pyeritz RE. The Marfan syndrome in early childhood: analysis of 15 patients diagnosed at less than 4 years of age. Am J Cardiol. 1983; 52(3): 353–358.
- Faivre L, Masurel-Paulet A, Collod-Béroud G, et al. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations. Pediatrics. 2009; 123(1): 391–398.
- Freed LA, Levy D, Levine RA, et al. Prevalence and clinical outcome of mitral-valve prolapse. N Engl J Med. 1999; 341(1): 1–7.
- Levine RA, Triulzi MO, Harrigan P, et al. The relationship of mitral annular shape to the diagnosis of mitral valve prolapse. Circulation. 1987; 75(4): 756–767.
- Disse S, Abergel E, Berrebi A, et al. Mapping of a first locus for autosomal dominant myxomatous mitral-valve prolapse to chromosome 16p11.2-p12.1. Am J Hum Genet. 1999; 65(5): 1242–1251.
- Freed LA, Acierno JS, Dai D, et al. A locus for autosomal dominant mitral valve prolapse on chromosome 11p15.4. Am J Hum Genet. 2003; 72(6): 1551–1559.
- Nesta F, Leyne M, Yosefy C, et al. New locus for autosomal dominant mitral valve prolapse on chromosome 13: clinical insights from genetic studies. Circulation. 2005; 112(13): 2022–2030.
- Judge DP, Rouf R, Habashi J, et al. Mitral valve disease in Marfan syndrome and related disorders. J Cardiovasc Transl Res. 2011; 4(6): 741–747.
- Habashi JP, Judge DP, Holm TM, et al. Losartan, an AT1 antagonist, prevents aortic aneurysm in a mouse model of Marfan syndrome. Science. 2006; 312(5770): 117–121.
- Lacro RV, Dietz HC, Wruck LM, et al. Pediatric Heart Network Investigators. Rationale and design of a randomized clinical trial of beta-blocker therapy (atenolol) versus angiotensin II receptor blocker therapy (losartan) in individuals with Marfan syndrome. Am Heart J. 2007; 154(4): 624–631.
- Habashi JP, Doyle JJ, Holm TM, et al. Angiotensin II type 2 receptor signaling attenuates aortic aneurysm in mice through ERK antagonism. Science. 2011; 332(6027): 361–365.
- Gillinov AM, Hulyalkar A, Cameron DE, et al. Mitral valve operation in patients with the Marfan syndrome. J Thorac Cardiovasc Surg. 1994; 107(3): 724–731.
- Helder MRK, Schaff HV, Dearani JA, et al. Management of mitral regurgitation in Marfan syndrome: Outcomes of valve repair versus replacement and comparison with myxomatous mitral valve disease. J Thorac Cardiovasc Surg. 2014; 148(3): 1020–4; discussion 1024.
- Rankin JS, He X, O'Brien SM, et al. The Society of Thoracic Surgeons risk model for operative mortality after multiple valve surgery. Ann Thorac Surg. 2013; 95(4): 1484–1490.
- Fuzellier JF, Chauvaud SM, Fornes P, et al. Surgical management of mitral regurgitation associated with Marfan's syndrome. Ann Thorac Surg. 1998; 66(1): 68–72.
- Bhudia SK, Troughton R, Lam BK, et al. Mitral valve surgery in the adult Marfan syndrome patient. Ann Thorac Surg. 2006; 81(3): 843–848.
- Enriquez-Sarano M, Schaff HV, Orszulak TA, et al. Valve repair improves the outcome of surgery for mitral regurgitation. A multivariate analysis. Circulation. 1995; 91(4): 1022–1028.
- Suri RM, Schaff HV, Dearani JA, et al. Survival advantage and improved durability of mitral repair for leaflet prolapse subsets in the current era. Ann Thorac Surg. 2006; 82(3): 819–826.
- Liu AC, Joag VR, Gotlieb AI. The emerging role of valve interstitial cell phenotypes in regulating heart valve pathobiology. Am J Pathol. 2007; 171(5): 1407–1418.
- Barth PJ, Köster H, Moosdorf R. CD34+ fibrocytes in normal mitral valves and myxomatous mitral valve degeneration. Pathol Res Pract. 2005; 201(4): 301–304.
- Judge DP, Rouf R, Habashi J, et al. Mitral valve disease in Marfan syndrome and related disorders. J Cardiovasc Transl Res. 2011; 4(6): 741–747.
- Nasuti JF, Zhang PJ, Feldman MD, et al. Fibrillin and other matrix proteins in mitral valve prolapse syndrome. Ann Thorac Surg. 2004; 77(2): 532–536.
