Andersen-Tawil syndrome primary prevention: Difference between revisions

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==Primary Prevention==
== Overview ==
===Genetic Counselling===
Effective measures for the primary prevention of [[Andersen-Tawil syndrome]] ([[Andersen-Tawil syndrome|ATS]]) include [[lifestyle]] modifications, [[carbonic anhydrase inhibitors]] using, [[potassium]] supplements and [[cardioverter-defibrillator]].
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.
== Primary Prevention ==
* 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.
Effective measures for the primary prevention of [[Andersen-Tawil syndrome]] ([[Andersen-Tawil syndrome|ATS]]) include:
* 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.
*[[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]]
**[[Implantable cardioverter defibrillator|Implantable cardioverter-defibrillato]]<nowiki/>r is an idle choice in patients with [[tachycardia]]-induced [[syncope]]


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
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[[Category:Electrophysiology]]
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[[Category:Genetic disorders]]
[[Category:Genetic disorders]]
[[Category:Cardiology]]
[[Category:Cardiology]]
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Latest revision as of 18:47, 17 February 2020

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam 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:

References


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