Andersen-Tawil syndrome primary prevention: Difference between revisions

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{{Andersen-Tawil syndrome}}
{{Andersen-Tawil syndrome}}
{{CMG}}; {{AE}} {{RT}}
{{CMG}}; {{AE}} {{RT}}
==Primary Prevention==
===Genetic Counselling===
ATS is inherited in an autosomal dominant manner. At least 50% of individuals diagnosed with ATS have anaffected parent. Up to 50% of cases are caused by de novo mutations. Each child of an individual with ATS has a 50% chance of inheriting the disorder. Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutation has been identified in an affected family member.
* Parents of a [[proband]]: At least 50% of individuals diagnosed with ATS have an affected parent.  A proband with ATS may have the disorder as the result of a de novo gene mutation. The proportion of cases caused by de novo mutations may be as high as 50%.  Recommendations for the evaluation of parents of a proband with an apparent de novo mutation include a detailed neurologic and cardiologic evaluation, 12-lead ECG, 24-hour Holter monitoring, and molecular genetic testing for the KCNJ2 mutation identified in the proband.
* Sibs of a proband: The risk to the sibs of the proband depends on the genetic status of the proband's parents.  If a parent of the proband is affected and/or has the KCNJ2 mutation identified in the proband, the risk to the sibs of inheriting the mutation is 50%.  When the parents are clinically unaffected, the risk to the sibs of a proband appears to be low.  If a disease-causing mutation cannot be detected in the DNA extracted from the leukocytes of either parent, two possible explanations are germline mosaicism in a parent or a de novo mutation in the proband. Although no instances of germline mosaicism have been reported, it remains a possibility.
* Offspring of a proband: Each child of an individual with ATS has a 50% chance of inheriting the mutation.
* Other family members of a proband: The risk to other family members depends on the status of the proband's parents. If a parent is affected, his or her family members are at risk.


== Overview ==
== Overview ==
There are no established measures for the primary prevention of [disease name].
OR
There are no available vaccines against [disease name].
OR
Effective measures for the primary prevention of Andersen-Tawil syndrome (ATS) include Lifestyle modifications, carbonic anhydrase inhibitors using, potassium supplements and cardioverter-defibrillator.
Effective measures for the primary prevention of Andersen-Tawil syndrome (ATS) include Lifestyle modifications, carbonic anhydrase inhibitors using, potassium supplements and cardioverter-defibrillator.
OR
[Vaccine name] vaccine is recommended for [patient population] to prevent [disease name]. Other primary prevention strategies include [strategy 1], [strategy 2], and [strategy 3].


== Primary Prevention ==
== Primary Prevention ==
There are no established measures for the primary prevention of [disease name].
OR
There are no available vaccines against [disease name].
OR
Effective measures for the primary prevention of Andersen-Tawil syndrome (ATS) include:
Effective measures for the primary prevention of Andersen-Tawil syndrome (ATS) include:


Revision as of 18:43, 17 February 2020

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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

Effective measures for the primary prevention of Andersen-Tawil syndrome (ATS) include Lifestyle modifications, carbonic anhydrase inhibitors using, potassium supplements and cardioverter-defibrillator.

Primary Prevention

Effective measures for the primary prevention of Andersen-Tawil syndrome (ATS) include:

  • Lifestyle modification if applicable
  • Dietary modification if applicable
  • Carbonic anhydrase inhibitors use like acetazolamide
    • Preferred regimen (1): Acetazolamide adults 125-1,000 mg daily, children 5-10 mg/kg/day
  • Potassium supplements
    • Slow release potassium supplements may be helps with hypokalemic periodic paralysis
  • Implantable cardioverter-defibrillator
    • Implantable cardioverter-defibrillator is an idle choice in patients with tachycardia-induced syncope

References


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