Basi genetiche della morte cardiaca improvvisa

Silvia G. Priori, Raffaella Bloise
Cardiologia Molecolare, Fondazione Salvatore Maugeri, Pavia

Introduzione
La sindrome del QT lungo
La sindrome di Brugada
Conclusioni

Conclusioni

Negli ultimi otto anni le conoscenze di biologia molecolare hanno modificato in modo importante l'approccio alle patologie dei canali ionici cardiaci. Una delle più importanti "rivoluzioni" concettuali operate dalla biologia molecolare è stata quella di evidenziare come il pattern elettrocardiografico (QT lungo o sopraslivellamento del tratto ST) sia il marcatore comune di alterazioni a carico di geni differenti. Tali dati hanno fornito lo stimolo per la ricerca e lo sviluppo di parametri di stratificazione del rischio, nonché di terapie individualizzate per i diversi difetti genetici. Questo percorso innovativo è solo agli inizi e molto lavoro sarà richiesto per giungere all'ottimizzazione della gestione del paziente con malattie aritmogene su base genetica.

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