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Andersen-Tawil syndrome screening

Introduction

Overview

Overview

There is insufficient evidence to recommend routine screening for Andersen-Tawil syndrome. But when a patient with positive KCNJ2 mutation follow the patient with ECG and holter monitoring.

Screening

Screening

Holter monitor tracing
Holter monitor tracing demonstrating an episode of nonsustained bidirectional ventricular tachycardia. Case courtesy by Michael David Fryer et al[4]
12 lead ECG
A 12 lead ECG recorded from the patient showing frequent polymorphic ectopy. Case courtesy by Michael David Fryer et al[5]
References

References

  1. โ†‘ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K; et al. (1993). “GeneReviewsยฎ”. PMIDย 20301441.
  2. โ†‘ Spillane, J; Kullmann, D M; Hanna, M G (2015). “Genetic neurological channelopathies: molecular genetics and clinical phenotypes”. Journal of Neurology, Neurosurgery & Psychiatry: jnnp-2015โ€“311233. doi:10.1136/jnnp-2015-311233. ISSNย 0022-3050.
  3. โ†‘ Fernlund E, Lundin C, Hertervig E, Kongstad O, Alders M, Platonov P (2013). “Novel mutation in the KCNJ2 gene is associated with a malignant arrhythmic phenotype of Andersen-Tawil syndrome”. Ann Noninvasive Electrocardiol. 18 (5): 471โ€“8. doi:10.1111/anec.12074. PMIDย 24047492.
  4. โ†‘ “Recurrent syncope in the Andersen Tawil syndrome โ€“ Cardiac or neurological?”.
  5. โ†‘ “Recurrent syncope in the Andersen Tawil syndrome โ€“ Cardiac or neurological?”.

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