Andersen-Tawil syndrome screening

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Andersen-Tawil syndrome Microchapters

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Differentiating Andersen-Tawil syndrome from other Diseases

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

Overview

There is insufficient evidence to recommend routine screening for Andersen-Tawil syndrome.

Screening

  • There is insufficient evidence to recommend routine screening for Andersen-Tawil syndrome.
  • But when a patient with positive KCNJ2 mutation and have no symptoms in Andersen-Tawil syndrome yearly screening with the following should be considered:
    • A 12-lead ECG[1][2]
    • 24-hour Holter monitoring

References

  1. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K; et al. (1993). "GeneReviews®". PMID 20301441.
  2. Spillane, J; Kullmann, D M; Hanna, M G (2015). "Genetic neurological channelopathies: molecular genetics and clinical phenotypes". Journal of Neurology, Neurosurgery & Psychiatry: jnnp-2015–311233. doi:10.1136/jnnp-2015-311233. ISSN 0022-3050.

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