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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Andersen-Tawil syndrome


Other Names for this Disease

  • Andersen cardiodysrhythmic periodic paralysis
  • Andersen syndrome
  • Long QT syndrome 7
  • LQT7
  • Periodic paralysis, potassium-sensitive cardiodysrhythmic type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

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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
    • Ocular hypertelorism
    • Small mandible
    • Fifth-digit clinodactyly
    • 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 type 1.[1]
Last updated: 10/11/2011

Is genetic testing available for Andersen-Tawil syndrome?

Yes, genetic testing is available for Andersen-Tawil syndrome type 1, which accounts for about 60% of cases of this condition. GeneTests lists the names of laboratories that are performing genetic testing for Andersen-Tawil syndrome type 1. To view the contact information for the clinical laboratories conducting testing, click here.

Please note:  Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. 
Last updated: 10/11/2011

References
  1. Tawil R & Venance SL. Andersen-Tawil Syndrome. GeneReviews. May 2010; http://www.ncbi.nlm.nih.gov/books/NBK1264/. Accessed 10/11/2011.


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
  • Long QT syndrome 7
  • LQT7
  • Periodic paralysis, potassium-sensitive cardiodysrhythmic type
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.