La tretalogia di Fallot è la forma più comune di CHD cianotici. TOF implica quattro difetti del cuore : un ampio difetto ventricolare settale , stenosi polmonare ,
ipertrofia ventricolare destra , e una sovrascrittura dell’ aorta.
Utilizzando un test ad ampio genoma per registrare il numero di varianti.
Silversides e altri hanno scoperto che il gene PLXNA2 , il quale codifica la plexina A2 , è un candidato per la patogenesi di TOF. Tale scoperta diventa rilevante se associata ad un’ altro studio più aggiornato che mostra i CHD , incluso TOF , nei topi plexina A2-deficienti.
CONCLUSIONE.
La segnalazione della semaforina gioca un ruolo centrale non solo nei vari processi di sviluppo ma anche nella patogenesi di diversi disturbi congeniti. Ulteriori studi sul genoma utilizzanti tecnologie di nuova generazione dovrebbero definire l’ ancora poco chiara relazione tra le patologie congenite e le semaforine segnale.
xy
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