La sindrome dei bambini blu consiste nella cianosi periferica più o meno marcata dei neonati (ma non solo) che presentano uno shunt prevalentemente ventricolare che provoca un mixing di sangue non ossigenato (dal circolo sistemico) e sangue ossigenato (proveniente dal circolo polmonare). Questo mixing rende il sangue arterioso meno ossigenato e quindi più scuro, provocando la cianosi. La cianosi si fa più marcata quando la pressione arteriosa aumenta con vasocostrizione periferica, ad esempio mentre il bambino piange o mentre defeca. 

Le cardiopatie cianotizzanti sono la tetralogia di Fallot (ToF), la trasposizione delle grandi arterie (TGA), il tronco arterioso, la sindrome del cuore sinistro ipoplasico (HLHS) e tutte le varianti dei ventricoli unici e a doppia uscita.

La trasposizione delle grandi arterie Schema della trasposizione delle grandi arterie

La trasposizione delle grandi arterie (TGA) consiste nell’inversione dell’aorta e dell’arteria polmonare con una discordanza  ventricolare. Nella normalità, l’aorta nasce dal ventricolo sinistro e l’arteria polmonare da quello destro. Nella trasposizione, le posizioni sono invertite e modificano la normale circolazione. L’aorta, nascendo dal ventricolo destro, porta al circolo sistemico il sangue venoso proveniente dalle vene cave che poi a sua volta, torna a livello cavale. L’arteria polmonare, nascendo dal ventricolo sinistro, porta il sangue ossigenato proveniente dal circolo polmonare di nuovo ai polmoni. Le circolazioni polmonare e sistemica non sono più incrociate, ma corrono parallelamente.

La TGA è incompatibile con la vita. I neonati affetti da TGA, per poter sopravvivere, devono  presentare un difetto atriale e/o ventricolare che metta in comunicazione le due circolazioni parallele. La maggiore entità del difetto interatriale/ventricolare conduce ad una prognosi  temporaneamente migliore. Alcuni neonati sviluppano anche uno shunt crociato tra arteria  polmonare e aorta, altri uno shunt post-dotto che associati al difetto interatriale (DIA) assicurano un  minimo mixing di sangue e una saturazione che si aggira sul 60%. Per impedire che questi shunt si  chiudano (ricordiamo che il dotto di Botallo si chiude spontaneamente entro breve tempo dopo la nascita), è possibile somministrare prostaglandine (per quanto riguarda il dotto) o intervenire  chirurgicamente con la tecnica di Rashkind (vedi dopo). La terapia della TGA consiste nella pervietà degli shunt e nella correzione arteriosa. Una volta si eseguiva la tecnica di Rashkind o atriosettostomia, cioè un’apertura tramite palloncino del DIA, spesso era il forame ovale, sommata all’intervento di Mustard-Senning che consisteva  nell’inversione atriale. In questo modo si otteneva una circolazione di questo tipo:

Intervento di Mustard-Senning, inversione atriale.

Ora la correzione della TGA avviene con switch arterioso entro 15 giorni dalla nascita e con  trasposizione delle coronarie sull’aorta. Rispetto all’intervento di Rashkind-Mustard-Senning, il  ventricolo destro è collegato all’arteria polmonare e il ventricolo sinistro all’aorta. Questo permette  al ventricolo destro di non diventare sistemico (cosa che sarebbe invece avvenuta) e di non  sollecitare la valvola tricuspide (a 3 lembi) da pressioni molto più levate rispetto a quelle polmonari.   Oltre a questo, si ovvia ai problemi di conduzione e ai blocchi atrioventricolari che sarebbero nati  dall’inversione dei due atri e dall’onda di depolarizzazione anormale.

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