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Diseases

Genetic and Rare Diseases Information Center (GARD)

Andersen-Tawil syndrome


Other Names for this Disease
  • Andersen cardiodysrhythmic periodic paralysis
  • Andersen syndrome
  • Cardiodysrhythmic potassium-sensitive periodic paralysis
  • Long QT syndrome 7
  • LQT7
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Tests & Diagnosis

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Is genetic testing available for Andersen-Tawil syndrome?

Yes, the Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. 
Last updated: 8/18/2015

How is Andersen-Tawil syndrome diagnosed?

The diagnosis of Andersen-Tawil syndrome might be suspected in individuals with either:[1]

1. Two of the following three criteria:

  • Periodic paralysis
  • Symptomatic cardiac arrhythmias or evidence of enlarged U-waves, ventricular ectopy, or a prolonged QTc or QUc interval on electrocardiogram (ECG) 
  • Characteristic facial features, dental abnormalities, small hands and feet, and at least two of the following:
    • Low-set ears
    • Widely spaced eyes
    • Small lower jaw (mandible)
    • Fifth-digit clinodactyly (curved pinky finger)
    • Syndactyly

      or

2. One of the above three criteria in addition to at least one other family member who meets two of the three criteria.

The presence of a mutation in the KCNJ2 gene confirms the diagnosis of Andersen-Tawil syndrome.[1]
Last updated: 8/18/2015

References
  1. Statland JM, Tawil R, Venance SL. Andersen-Tawil Syndrome. GeneReviews. August 6, 2015; http://www.ncbi.nlm.nih.gov/books/NBK1264/. Accessed 8/18/2015.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • Orphanet lists international laboratories offering diagnostic testing for this condition.
Other Names for this Disease
  • Andersen cardiodysrhythmic periodic paralysis
  • Andersen syndrome
  • Cardiodysrhythmic potassium-sensitive periodic paralysis
  • Long QT syndrome 7
  • LQT7
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.