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) which include A and B.
A. 2 has to to positive out of the following three criteria for Andersen-Tawil syndrome (ATS) :
- Periodic paralysis
- Cardiac arrhythmias which are supposed to be symptomatic or positive U-waves or a prolonged QTc or QUc interval on ECG.
- 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
B. Along with one of the above three criteria AND at least one other family member who meets two of the three criteria.
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.