Are stop-codon and C-terminal nonsense mutations associated with a lower risk of cardiac events in patients with long QT syndrome type 1?
Stop-codon mutations are associated with a lower risk of cardiac events in patients with LQT1, while frameshift mutations are associated with the same risk as the majority of the missense mutations. Our data indicate functional differences between these previously considered equivalent mutation subtypes.
Many parents who expect outpatient treatment prefer to take their child to a primary care pediatrician during evening hours, but present to the ED because of lack of primary care access.