Neonatal long QT syndrome due to a de novo dominant negative hERG mutation
Beery, T.A.; Shooner, K.A.; Benson, D.W.
American Journal of Critical Care An Official Publication American Association of Critical-Care Nurses 16(4): 416; 412-415
2007
ISSN/ISBN: 1062-3264 PMID: 17595376 Document Number: 605586
A 4-day-old girl with ventricular tachyarrhythmias, sinus bradycardia, and 2:1 atrioventricular block had prolongation of the QT interval. She was symptomatic with arching, gasping, and cyanosis presumably due to a life-threatening ventricular tachyarrhythmia such as torsades de pointes. Molecular genetic studies indicated a heterozygous, de novo, dominant negative mutation in hERG, a gene that encodes a protein in a potassium ion channel. The parents do not have the mutation. The patient's clinical scenario was produced by the convergence of 3 events: a de novo mutation occurred in hERG, the mutation was dominant negative, and the action of the mutation resulted in neonatal long QT syndrome. The child was treated aggressively and is doing well at age 6 years.