Andersen-Tawil syndrome primary prevention: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
(Created page with "__NOTOC__ {{Andersen-Tawil syndrome}} {{CMG}}; {{AE}} {{RT}} ==Primary Prevention== ===Genetic Counselling=== ATS is inherited in an autosomal dominant manner. At least 50% ...")
 
 
(10 intermediate revisions by 3 users not shown)
Line 1: Line 1:
__NOTOC__
__NOTOC__
{{Andersen-Tawil syndrome}}
{{Andersen-Tawil syndrome}}
{{CMG}}; {{AE}} {{RT}}
{{CMG}}; {{AE}} {{VKG}}


==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.
== Primary Prevention ==
Effective measures for the primary prevention of [[Andersen-Tawil syndrome]] ([[Andersen-Tawil syndrome|ATS]]) include:


* Parents of a [[proband]]: At least 50% of individuals diagnosed with ATS have an affected parent. 
*[[Lifestyle]] modification if applicable
 
*[[Dietary]] modification if applicable
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%. 
*[[Carbonic anhydrase inhibitors]] use like [[acetazolamide]]
 
**Preferred regimen (1): [[Acetazolamide]] adults 125-1,000 mg daily, children 5-10 mg/kg/day
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.
*[[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}}
{{WikiDoc Help Menu}}
{{WikiDoc Sources}}
<br />


[[Category:Electrophysiology]]
[[Category:Electrophysiology]]
Line 21: Line 29:
[[Category:Genetic disorders]]
[[Category:Genetic disorders]]
[[Category:Cardiology]]
[[Category:Cardiology]]
{{WikiDoc Help Menu}}
{{WikiDoc Sources}}

Latest revision as of 18:47, 17 February 2020

Andersen-Tawil syndrome Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Differentiating Andersen-Tawil syndrome from other Diseases

Epidemiology and Demographics

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

Chest X Ray

CT

MRI

Echocardiography or Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Tertiary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Andersen-Tawil syndrome primary prevention On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

slides

Images

American Roentgen Ray Society Images of Andersen-Tawil syndrome primary prevention

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Andersen-Tawil syndrome primary prevention

CDC on Andersen-Tawil syndrome primary prevention

Andersen-Tawil syndrome primary prevention in the news

Blogs on Andersen-Tawil syndrome primary prevention

Directions to Hospitals Treating Andersen-Tawil syndrome

Risk calculators and risk factors for Andersen-Tawil syndrome primary prevention

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


Template:WikiDoc Sources

Retrieved from "https://www.wikidoc.org/index.php?title=Andersen-Tawil_syndrome_primary_prevention&oldid=1599354"