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American Journal of Critical Care. 2007;16: 416-412
Copyright © 2007 by the American Association of Critical-Care Nurses.
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Cases of Note features peer-reviewed case reports and case series that document clinically relevant findings from critical and high acuity care environments. Cases that illuminate clinical diagnoses and management issues in the treatment of critically and acutely ill patients and include discussion of the patient’s experience with the illness or intervention are encouraged. Proposals for future Cases of Note articles may be e-mailed to ajcc{at}aacn.org.

Neonatal Long QT Syndrome Due to a De Novo Dominant Negative hERG Mutation

By Theresa A. Beery, RN, PhD, ACNP, Kerry A. Shooner, MS, CGC and D. Woodrow Benson, MD, PhD. Theresa A. Beery is an associate professor at the University of Cincinnati, Cincinnati, Ohio. D.Woodrow Benson is the director of cardiovascular genetics and Kerry A. Shooner is a genetic counselor at Cincinnati Children’s Hospital Medical Center, University of Cincinnati.

Corresponding author: Theresa A. Beery, RN, PhD, ACNP, Associate Professor, University of Cincinnati, PO Box 210038, Cincinnati, OH 45221-0038 (e-mail: theresa.beery{at}uc.edu).

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.


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Copyright © 2007 by the American Association of Critical-Care Nurses.