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]
Overview
The diagnosis of Andersen-Tawil syndrome (ATS) is suspected in individuals with either A or B:
Diagnostic 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 Criteria
- Two features has to to positive out of the following three criteria for Andersen-Tawil syndrome (ATS) :[1][2][3][4]
- 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 and distinctive skeletal features, 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 Criteria
- Along with one of the above three criteria AND at least one of the other family member who meets two of the three criteria should be considered for further gene testing in patients with Andersen-Tawil syndrome (ATS).
Molecular genetic testing
- Once the phenotypic diagnosis is established and comprehensive genetic testing should be the next step in the diagnosis of Andersen-Tawil syndrome (ATS) patients to detect KCNJ2, KCNJ5 gene mutations which can be achieved by the following:[5][6]
- Gene-targeted testing
- Gene-targeted testing which includes single-gene testing and multigene panel
- Comprehensive genomic testing
- Comprehensive genomic testing which includes exome sequencing and genome sequencing.
- Gene-targeted testing
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
- ↑ Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA; et al. (2018). "Review of the Diagnosis and Treatment of Periodic Paralysis". Muscle Nerve. 57 (4): 522–530. doi:10.1002/mus.26009. PMC 5867231. PMID 29125635.
- ↑ Plaster NM, Tawil R, Tristani-Firouzi M, Canún S, Bendahhou S, Tsunoda A; et al. (2001). "Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome". Cell. 105 (4): 511–9. doi:10.1016/s0092-8674(01)00342-7. PMID 11371347.
- ↑ Miller TM, Dias da Silva MR, Miller HA, Kwiecinski H, Mendell JR, Tawil R; et al. (2004). "Correlating phenotype and genotype in the periodic paralyses". Neurology. 63 (9): 1647–55. doi:10.1212/01.wnl.0000143383.91137.00. PMID 15534250.
- ↑ Statland JM, Barohn RJ (2013). "Muscle channelopathies: the nondystrophic myotonias and periodic paralyses". Continuum (Minneap Minn). 19 (6 Muscle Disease): 1598–614. doi:10.1212/01.CON.0000440661.49298.c8. PMC 4234136. PMID 24305449.
- ↑ Ai T, Fujiwara Y, Tsuji K, Otani H, Nakano S, Kubo Y; et al. (2002). "Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia". Circulation. 105 (22): 2592–4. doi:10.1161/01.cir.0000019906.35135.a3. PMID 12045162.
- ↑ Preisig-Müller R, Schlichthörl G, Goerge T, Heinen S, Brüggemann A, Rajan S; et al. (2002). "Heteromerization of Kir2.x potassium channels contributes to the phenotype of Andersen's syndrome". Proc Natl Acad Sci U S A. 99 (11): 7774–9. doi:10.1073/pnas.102609499. PMC 124349. PMID 12032359.