Choroby zastawki mitralnej w zespole Marfana
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
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