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Molekylærgenetisk diagnostik af årsag til ventrikulær arytmi hos et barn

Forfatter(e)
Anders Krogh Brøndberg1, Jesper Vandborg Bjerre2, Jens Cosedis Nielsen1 & Henrik Kjærulf Jensen1 1) Hjertesygdomme, Aarhus Universitetshospital 2) Børneafdelingen, Aarhus Universitetshospital Ugeskr Læger 2015;177:V04150366
Reference: 
Ugeskr Læger 2015;177:V04150366
Blad nummer: 
Sidetal: 
2-3
Molecular genetic diagnostics of the cause of ventricular arrhythmias in children
Andersen-Tawil syndrome (ATS) is a rare hereditary multi­system 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.
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