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.

Diagnostic Study of Choice

Study of choice

• Phenotypic and genotypic evaluation of the patient is the gold standard test for the diagnosis of Andersen-Tawil syndrome (ATS).
• 2 has to to positive out of the following three criteria for Andersen-Tawil syndrome (ATS) :

1. Periodic paralysis
2. Cardiac arrhythmias which are supposed to be symptomatic or positive U-waves or a prolonged QTc or QUc interval on ECG.
3. Unique facial characteristics, dental problems with small hands and feet, with 2 of the following which include:
   • Low-set ears
   • Widely spaced eyes
   • Small mandible
   • Fifth-digit clinodactyly
   • Syndactyly of toes 2 and 3

OR

The following result of [gold standard test] is confirmatory of [disease name]:

• [Result 1]
• [Result 2]

OR

[Name of the investigation] must be performed when:

• The patient presents with [symptom/sign 1], [symptom/sign 2], and [symptom/sign 3].
• A [name of test] is positive for [sign 1], [sign 2], and [sign 3] in the patient.

OR

[Name of the investigation] is the gold standard test for the diagnosis of [disease name].

OR

The diagnostic study of choice for [disease name] is [name of the investigation].

OR

There is no single diagnostic study of choice for the diagnosis of [disease name].

OR

There is no single diagnostic study of choice for the diagnosis of [disease name], but [disease name] can be diagnosed based on [name of the investigation 1] and [name of the investigation 2].

OR

[Disease name] is primarily diagnosed based on the clinical presentation.

OR

Investigations:

• Among the patients who present with clinical signs of [disease name], the [investigation name] is the most specific test for the diagnosis.
• Among the patients who present with clinical signs of [disease name], the [investigation name] is the most sensitive test for diagnosis.
• Among the patients who present with clinical signs of [disease name], the [investigation name] is the most efficient test for diagnosis.

References

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