A case with classical triad of Andersen Tawil Sydrome and KCNJ2:c,919A>G mutation

Özet

Andersen-Tawil Syndrome (ATS) is a rare channelopathy with distinctive features of periodic paralytic attacks, ventricular arrhythmias with long QT interval and dysmorphic features. The syndrome shows a high degree of phenotypic heterogeneity. Diagnosis can be confirmed by genetic testing where KCNJ2 is the most common causative gene. Here, we report a young patient with classical triad of ATS carrying KCNJ2:c,919A>G mutation, a mutation which was previously reported in only one patient who had no cardiac involvement. To our knowledge, our case is the first reported case with ventricular arrhythmias due to KCNJ2:c,919A>G (pMet307Val) mutation, and reflects the clinical heterogeneity of the disease when compared with previous reports.