La sindrome di Marfan (MFS) e la piu comune malattia dell'aorta geneticamente determinata. Mutazioni della glicoproteina fibrillina-1 della matrice extracellulare, codificata dal cromosoma 15 (15q21.1) sono responsabili dei cambiamenti del connettivo riscontrati nella MFS. La trasmissione e autosomica dominante con penetranza elevata, ma la severita e variabile (Wilcken DE. Overview of inherited metabolic disorders causing cardiovascular disease. J Inherit Metab Dis. 2003;26(2-3):245-57). Colpisce principalmente i sistemi cardiovascolare, oculare e muscoloscheletrico. La prevalenza e stimata di 1 caso su 5,000-10,000 (De Bie S, De Paepe A, Delvaux I, Davies S, Hennekam RCM. Marfan Syndrome in Europe. Community Genet. 2004;7(4):216-25).

Nella sua forma classica la malattia colpisce occhio, sistema muscoloscheletrico e sistema cardiovascolare ma non necessariamente contemporaneamente.
La sublussazione del cristallino si presente circa nel 50-80%. Solitamente la dislocazione del cristallino e presente alla prima visita oftalmologia dettagliata, segno che la sublussazione avviene in utero. La sublussazione e bilaterale e raramente progredisce. Altre manifestazioni sono l'ectopia del cristallino, la miopia e il distacco spontaneo di retina.
Le manifestazioni scheletriche comprendono la dolicostenomelia (eccessiva lunghezza degli arti rispetto a quella del tronco), l'aracnodattilia (spesso soggettiva), la scoliosi e il torace carenato.
La principale alterazione dell'apparato cardiovascolare e la lassita della tonaca media dell'aorta, che puo causare una progressiva dilatazione dell'aorta o una dissecazione acuta della stessa. Il prolasso della valvola mitrale con rigurgito e comune e puo predisporre all'endocardite o allo scompenso cardiaco congestizio. L'aspettativa di vita e dimezzata nei pazienti con Marfan,e le complicanze cardiovascolari sono responsabili del 95% delle morti.
I pazienti affetti da MFS non devono essere in alcun modo soli nell'affrontare una malattia cronica, ereditaria e potenzialmente letale. Il medico di base deve essere consapevole e deciso nel trattare il tumulto emozionale determinato nel paziente dalla diagnosi, dalla restrizione di alcune attivita, dall'inizio di una terapia cronica in una persona relativamente asintomatica e dal rischio di un improvviso evento letale (Lalchandani S, Wingfield M. Pregnancy in women with Marfan's Syndrome. Eur J Obstet Gynecol Reprod Biol. 2003;110(2):125-30).

La prognosi e legata alla progressiva dilatazione dell'aorta, che puo potenzialmente portare alla dissecazione aortica e alla morte in giovane eta. La chirurgia profilattica e il trattamento con ?-bloccanti ha migliorato sostanzialmente l'aspettativa di vita, dai 47 anni del 1972 ai 61 anni del 1995. L'identificazione precoce dei pazienti affetti da MFS e importante (Nollen GJ, Mulder BJ. What is new in the Marfan syndrome? Int J Cardiol. 2004;97 Suppl 1:103-8).

La Sindrome di Marfan e dovuta alla mutazione del gene FBN1. sono state identificate piu di 500 mutazioni e quasi tutte sono ristrette all'interno di una famiglia. Il gene FBN1 e composto da 65 esoni e quasi sempre un esone singolo codifica per un dominio della fibrillina-1. la localizzazione delle mutazioni e sparsa lungo tutto il gene FBN1. la maggior parte delle mutazioni sono non-senso. La correlazione genotipo-fenotipo nel Marfan e complicata sia da un gran numero di mutazioni che si trovano una sola volta sia dalla varieta di fenotipi diversi in pazienti con la stessa mutazione. A tutt'oggi non e possibile identificare alcuna mutazione di FBN1 nel 30% dei pazienti con una MFS definita clinicamente. Inoltre anche in altre fibrillinopatie e stata riscontrata una mutazione del gene FBN1. Tuttavia sono state fatte alcune associazioni. Lo skipping degli esoni 24-32 correla con la Sindrome di Marfan neonatale. Mutazioni che determinano il cambiamento di un residuo di cisteina o di un residuo fondamentale per il legame del calcio in uno dei domini cbEGF-like causa la Sindrome di Marfan classica. Un significativo sottogruppo di mutazioni localizzate tra gli esoni 59-65 (gli ultimi sette esoni di FBN1) sembra essere associato ad una forma lieve di MFS.
Fino a poco tempo fa venivano proposti tre modelli di patogenesi della Sindrome di Marfan. Inizialmente era stato proposto un modello negativo in cui il monomero di fibrillina mutante disgregava l'assemblaggio della normale fibrillina-1 in microfibrille o veniva esso stesso incorporato in modo errato nelle microfibrille. Il livello di proteina mutante correlava con la severita della malattia. Gli altri due modelli erano il disturbo dell'omeostasi tissutale delle fibre elastiche e l'aumentata sensibilita della fibrillino alla proteolisi.
Recentemente in uno studio di Neptune e colleghi e stato proposto un quarto modello patogenetico. Si e osservato che topi senza fibrillina-1 non avevano il controllo dell'attivazione e della trasmissione del segnale del TGF-? che determinava l'apoptosi nel polmone in crescita. Un antagonismo perinatale del TGF-? attenuava l'apoptosi e salvava la formazione dei setti alveolari in vivo. Questo meccanismo patogenetico potrebbe anche spiegare le altre manifestazioni del Marfan, inclusi i cambiamenti mixomatosi dei lembi valvolari e l'eccessiva crescita ossea. Se questo modello fosse confermato nell'uomo si aprirebbe la strada al trattamento perinatale di alcune patologie (Nollen GJ, Mulder BJ. What is new in the Marfan syndrome? Int J Cardiol. 2004;97 Suppl 1:103-8).
L'identificazione nel 2004 delle mutazioni del gene TGFBR2 nella Sindrome di Marfan di tipo II e stato il passo piu importante nel dimostrare un'abnorme alterazione del segnale del TGF-? nella patogenesi della MFS. Nel 2005 sono state descritte alterazioni di TGFBR2 e TGFBR1 che causano un nuovo gruppo di Sindromi di Marfan: le TGF-?-segnalopatie (Boileau C, Jondeau G, Mizuguchi T, Matsumoto N. Molecular genetics of Marfan syndrome. Curr Opin Cardiol. 2005 May;20(3):194-200).

Vista l'ampia eterogeneita intragenica loscreening genetico e ostacolato da una considerevole estensione e la diagnosi e basata ancora su criteri clinici maggiori e minori, definiti da un concilio di esperti e noti come nosologia di Ghent.
Criteri maggiori: 1) storia familiare in genitori, figli, fratelli indipendentemente; 2)mutazione di FBN1; 3) dilatazione della radice aortica, prolasso mitralico, dissecazione dell'aorta scendente; 4) ectopia lentis; 5) pectus excavatum con necessita di intervento chirurgico, pectus carinatum, piede piatto, segno del polso e del pollice, scoliosi con angolo superiore a 20? o spondilolistesi, dolicostenomelia, protrusione dell'acetabolo (Radiografia o risonanza magnetica), ridotta estensione dei gomiti (<170?); 6) estasia durale lombosacrale (TAC o RMN).
Criteri minori: 1)calcificazioni della valvola mitrale (<40 anni), dilatazione dell'arteria polmonare, dilatazione/dissecazione dell'aorta discendente; 2) (necessari 2) cornea piatta, miopia, lobo allungato; 3) pectus excavatum di moderata entita, facies tipica, ipermobilita articolare; 4) pneumotorace spontaneo, bolla apicale; 5)strie inspiegate, ernie ricorrenti (Nollen GJ, Mulder BJ. What is new in the Marfan syndrome? Int J Cardiol. 2004;97 Suppl 1:103-8).
Un criterio maggiore e due criteri minori, oppure 5 criteri minori con una storia familiare di Marfan, o sette criteri minori senza storia familiare di Marfan, permettono di identificare coloro che potrebbero trarre beneficio dalla sorveglianza cardiologia, oftalmologica e ortopedica.Tutti coloro che presentano queste caratteristiche dovrebbero eseguire un'eocardiografia e nessuna indicazione sulla prognosi dovrebbe essere loro data senza averla eseguita (Lalchandani S, Wingfield M. Pregnancy in women with Marfan's Syndrome. Eur J Obstet Gynecol Reprod Biol. 2003;110(2):125-30).
L'insorgenza della scoliosi e della protrusione intrapelvica dell'acetabolo e eta dipendente e avviene generalmente dopo un periodo di crescita rapida.
I bambini nei quali si sospetta una sindrome di Marfan, che pero non soddisfano i criteri di Ghent, devono essere sottoposti a valutazione clinica prescolare, prepuberale, e all'eta di 18 anni. Una valutazione supplementare e consigliata in eta puberale nei bambini o adolescenti con familiarita positiva nei quali non si puo eseguire un esame del DNA e nei bambini senza storia familiare che soddisfano solo in parte i criteri sopra elencati (Dean JC. Management of Marfan syndrome. Heart. 2002;88(1):97-103).

La diagnosi prenatale andrebbe fatta a tutti i figli di genitori affetti da Marfan, eseguita tramite studi linkage genetico ed ecocardiografia fetale. E anche possibile eseguire una diagnosi reimpianto. La diagnosi prenatale con l'esame dei villi coriali e l'amniocentesi e possibile nelle famiglie informate.
La cosa piu importante nella consulenza genetica e l'onesta: c'e il 50% di rischio che la prole sia malata indipendentemente dal sesso del bambino. E necessario inoltre informare la famiglia della variabile penetranza della malattia. Quando viene posta diagnosi di Marfan in un bambino con familiarita negativa e necessario sottoporre a attenta analisi genetica entrambi i genitori in previsione di una futura gravidanza. (Lalchandani S, Wingfield M. Pregnancy in women with Marfan's Syndrome. Eur J Obstet Gynecol Reprod Biol. 2003;110(2):125-30).

Il trattamento con ?-bloccanti va considerato in tutti i pazienti con Marfan di qualsiasi eta con dilatazione aortica, ma il trattamento risulta piu efficace in quelli con diametro aortico <4 cm. I ?-bloccanti non sono pero utilizzabili in tutti i pazienti per la presenza di alcuni effetti collaterali. Altri trattamenti utilizzabili sono i calcio-antagonisti e gli ACE-inibitori, anche se non ci sono studi clinici controllati che confermino il beneficio portato da questi farmaci nella sindrome di Marfan.
La chirurgia aortica d'elezione nella sindrome di Marfan porta a risultati piu duraturi nel tempo di quella effettuata in urgenza e la chirurgia profilattica e consigliata per diametri del seno di Valsala >5,5 cm nell'adulto e >5 cm nel bambino.
Le gravide affette da Marfan hanno un aumentato rischio di dissecazione aortica se il diametro aortico >4 cm. Questi casi necessitano di un accurato monitoraggio cardiovascolare durante la gestazione e nel puerperio (Dean JC. Management of Marfan syndrome. Heart. 2002;88(1):97-103).
La scoliosi ha un andamento progressivo e dovrebbe essere trattata con la fisioterapia se e superiore ai 20 gradi, o mediante terapia chirurgica se essa progredisce oltre i 45 gradi. I risultati ottenuti con la terapia estrogenica, nelle adolescenti con scoliosi, non sono confortanti. La lussazione del cristallino raramente richiede un intervento chirurgico di sostituzione, e bene comunque seguire attentamente i pazienti per la possibile insorgenza di un distacco di retina (Harrison's, Principles of Internal Medicine, 15th Edition, 2001).

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