A Novel and Lethal De Novo LQT-3 Mutation in a Newborn with Distinct Molecular Pharmacology and Therapeutic Response
Figure 1
Clinical and genetic profile of the proband.
A. Baseline ECG recording reporting a QTc of approximately 825 ms. Note 2∶1 AV block. B. Recording after infusion with IV lidocaine (see text). QTc is approximately 450 and 2∶1 block is absent. C. Chromatograms of DNA sequences: the proband but neither the mother nor father has a 4418 T = >G in SCN5A resulting in a substitution of cytsteine for phenylalanine at amino acid 1473 in Nav1.5.