Cascade screening and presymptomatic dna diagnosis based on the example of a family with Andersen–Tawil syndrome

• P. Platonov
• E. Fernlund

Abstract

Andersen–Tawil syndrome (ATS) is a multisystem chan- nelopathy which is also a rare form of the long QT syndrome (LQTS7) with the incidence estimated to be approximately 1 in 1 000 000. Compared to other channelopathies ATS is considered a relatively benign condition in which life-threatening arrhythmias are rare, but still described in the literature. In this paper we present particular features of phenotypic manifestations of ATS caused by a previously undescribed 12-base-pair deletion (c.271_282del12) in the KCNJ2 gene. The disease was accompanied by relatively malignant arrhythmias: ventricular fibrillation, recurrent syncopal episodes and torsade de pointes. The cascade screening and presymptomatic DNA testing were performed among the relatives of the proband. 9 of 21 screened family members appeared to be the pathogenic mutation carriers and neither of them prior to the DNA testing was diagnosed with this disease.

Keywords:Andersen–Tawil syndrome, KCNJ2, LQTS7, cascade screening, DNA testing for arrhythmias

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