Andersen-Tawil syndrome diagnostic criteria

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

Diagnostic Criteria

The diagnosis of Andersen-Tawil syndrome (ATS) is suspected in individuals with either A or B: A. Two of the following three criteria:

Periodic paralysis
Symptomatic cardiac arrhythmias or electrocardiographic (ECG) evidence of enlarged U waves, ventricular ectopy, or a prolonged QTc or QUc interval
Characteristic facies, dental anomalies, small hands and feet, and at least two of the following:
- Low-set ears
- Widely spaced eyes
- Small mandible
- Fifth-digit clinodactyly
- Syndactyly

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