[Molecular genetic diagnostics of the cause of ventricular arrhythmias in children].

Abstract

Andersen-Tawil syndrome (ATS) is a rare hereditary multi--system disorder consisting of a triad of symptoms, ventricular arrhythmias, periodic paralysis and dysmorphic features. The syndrome is associated with a loss of function mutation in the gene KCNJ2, which encodes the Kir2.1 inward rectifier potassium channel. We represent a case story of a 15-year-old girl who had unexplained arrhythmias for six years. Molecular genetic screening with a 75-heart-panel revealed a pathogenic KCNJ2 missense mutation. The patient was diagnosed with ATS.

• Authors: Anders Krogh Brøndberg, Jesper Vandborg Bjerre, Jens Cosedis Nielsen, Henrik Kjærulf Jensen
• Journal: Ugeskrift for laeger (Ugeskr Laeger) Vol. 177 Issue 38 Pg. V04150366 (Sep 14 2015) ISSN: 1603-6824 [Electronic] Denmark
• Vernacular Title: Molekylærgenetisk diagnostik af årsag til ventrikulær arytmi hos et barn.
• PMID: 26376421 (Publication Type: Case Reports)

Chemical References

• KCNJ2 protein, human
• Potassium Channels, Inwardly Rectifying

Topics

• Adolescent
• Andersen Syndrome (diagnosis)
• Child
• Electrocardiography
• Female
• Humans
• Mutation, Missense
• Potassium Channels, Inwardly Rectifying (genetics)
• Tachycardia, Ventricular (drug therapy, genetics)
• Ventricular Premature Complexes (drug therapy, genetics)