Isomerismi atriali nel feto : le sindromi.
Definizione e bibliografia.
S.Gerboni M.D.
Le sindromi da Isomerismo Atriale Destro (IAD) e Isomerismo Atriale Sinistro (IAS), o sindromi eterotassiche, dette anche rispettivamente Sindromi Aspleniche (SA) e Sindromi Polispleniche (SP) , sono sindromi congenite che alterano la normale asimmetria degli organi addominali e toracici. Questi difetti cosidetti di mancata lateralizzazione, apparentemente a causa genetica unica, hanno espressioni fenotipiche diverse :
IAD e SA si associano a cardiopatie piu’ gravi quali canale atrioventricolare completo, trasposizione dei grossi vasi, atresia polmonare e ritorno venoso polmonare anomalo totale
IAS e SP, daltra parte, puo’ avere una prognosi migliore per la minor gravita’ dei difetti associati quali vena cava superiore bilaterale, interruzione della vena cava inferiore con continuazione in azigos, atrio comune, difetti del setto interventricolari, ritorno venoso anomalo polmonare parziale.
Il blocco atrioventricolare completo e’ una caratteristica dell’ IAS, ma non dell’IAD, ha ovviamente una prognosi sfavorevole.
Nelle ultime due decadi, l’ecocardiografia fetale e’ divenuta la tecnica ideale nella diagnosi delle.cardiopatie congenite neonatali e fetali gia’ dalla 16^ settimana di gestazione incluse cardiopatie congenite complesse quali gli isomerismi di cui si sono evidenziati dei marker fetali ( interruzione della vena cava inferiore con azigos continuation e BAV completo con anomalie strutturali cardiache presenti nel 90 % di IAS) .
In altri casi si puo’ osservare situs viscero-cardiaco ambiguo con cardiopatia. L’osservazione attenta del situs viscero-cardiaco puo’ segnalare la presenza di un IAS o IAD osservando la posizione della vana cava inferiore relativa all’aorta addominale ed al sistema dell’azigos, la posizione relativa dello stomaco e della punta cardiaca. Alcune combinazioni sono patognomoniche di eterotassia quali il blocco cardiaco e l’interruzione della vena cava ( l’interruzione della vena cava inferiore isolata è stata descritta, anche dal mio gruppo (26) in assenza di qualsiasi altra malformazione cardiaca ed extracardiaca.
Nella diagnostica prenatale puo’ essere piu’ facile dimostrare la morfologia degli atri rispettivamente biatriale destra o sinistra.
L’analisi delle anomalie cardiache e non cardiache in antrambi i tipi di isomerismo suggeriscono una comune origine embriologica e la disponibilita’ degli attuali mezzi di diagnosi ecocardiografica consentono una diagnosi precocissima in utero, permettendo una pianificazione corretta della gestazione e del feto cardiopatico.
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