Andersen-Tawil syndrome screening: Difference between revisions

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{{Andersen-Tawil syndrome}}


{{CMG}}; {{AE}}  
{{CMG}}; {{AE}} {{VKG}}
==Overview==
==Overview==


There is insufficient evidence to recommend routine screening for Andersen-Tawil syndrome.  
There is insufficient evidence to recommend routine [[Screening (medicine)|screening]] for [[Andersen-Tawil syndrome]]. But when a patient with positive [[KCNJ2]] [[Mutations|mutation]] follow the patient with [[The electrocardiogram|ECG]] and [[holter monitoring]].  
==Screening==
==Screening==


* There is insufficient evidence to recommend routine [[Screening (medicine)|screening]] for [[Andersen-Tawil syndrome]].
* There is insufficient evidence to recommend routine [[Screening (medicine)|screening]] for [[Andersen-Tawil syndrome]].
* But when a patient with positive [[KCNJ2]] [[Mutations|mutation]] and have no symptoms in Andersen-Tawil syndrome yearly screening with the following should be considered:  
* But when a patient with positive [[KCNJ2]] [[Mutations|mutation]] and have no symptoms in [[Andersen-Tawil syndrome]] yearly screening with the following should be considered:  
** A 12-lead ECG<ref name="pmid203014412">{{cite journal| author=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K et al.| title=GeneReviews® | journal= | year= 1993 | volume=  | issue=  | pages=  | pmid=20301441 | doi= | pmc= | url= }}</ref><ref name="SpillaneKullmann2015">{{cite journal|last1=Spillane|first1=J|last2=Kullmann|first2=D M|last3=Hanna|first3=M G|title=Genetic neurological channelopathies: molecular genetics and clinical phenotypes|journal=Journal of Neurology, Neurosurgery & Psychiatry|year=2015|pages=jnnp-2015-311233|issn=0022-3050|doi=10.1136/jnnp-2015-311233}}</ref>
** A [[12-lead ECG]]<ref name="pmid203014412">{{cite journal| author=Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K et al.| title=GeneReviews® | journal= | year= 1993 | volume=  | issue=  | pages=  | pmid=20301441 | doi= | pmc= | url= }}</ref><ref name="SpillaneKullmann2015">{{cite journal|last1=Spillane|first1=J|last2=Kullmann|first2=D M|last3=Hanna|first3=M G|title=Genetic neurological channelopathies: molecular genetics and clinical phenotypes|journal=Journal of Neurology, Neurosurgery & Psychiatry|year=2015|pages=jnnp-2015-311233|issn=0022-3050|doi=10.1136/jnnp-2015-311233}}</ref><ref name="pmid24047492">{{cite journal| author=Fernlund E, Lundin C, Hertervig E, Kongstad O, Alders M, Platonov P| title=Novel mutation in the KCNJ2 gene is associated with a malignant arrhythmic phenotype of Andersen-Tawil syndrome. | journal=Ann Noninvasive Electrocardiol | year= 2013 | volume= 18 | issue= 5 | pages= 471-8 | pmid=24047492 | doi=10.1111/anec.12074 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=24047492  }}</ref>
** 24-hour Holter monitoring
** 24-hour [[Holter monitoring]]


[[File:Holter monitor tracing.jpg|alt=Holter monitor tracing|center|thumb|745x745px|Holter monitor tracing demonstrating an episode of nonsustained bidirectional ventricular tachycardia. Case courtesy by Michael David Fryer et al<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750129/|title=Recurrent syncope in the Andersen Tawil syndrome – Cardiac or neurological?|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>]]
[[File:A 12 lead ECG.jpg|alt=12 lead ECG|center|thumb|750x750px|A 12 lead ECG recorded from the patient showing frequent polymorphic ectopy. Case courtesy by Michael David Fryer et al<ref>{{Cite web|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750129/|title=Recurrent syncope in the Andersen Tawil syndrome – Cardiac or neurological?|last=|first=|date=|website=|archive-url=|archive-date=|dead-url=|access-date=}}</ref>]]
<br />
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
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[[Category: (name of the system)]]
[[Category: Rare disease]]
[[Category: Cardiology]]

Latest revision as of 14:58, 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 screening On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

slides

Images

American Roentgen Ray Society Images of Andersen-Tawil syndrome screening

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 screening

CDC on Andersen-Tawil syndrome screening

Andersen-Tawil syndrome screening in the news

Blogs on Andersen-Tawil syndrome screening

Directions to Hospitals Treating Andersen-Tawil syndrome

Risk calculators and risk factors for Andersen-Tawil syndrome screening

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]

Overview

There is insufficient evidence to recommend routine screening for Andersen-Tawil syndrome. But when a patient with positive KCNJ2 mutation follow the patient with ECG and holter monitoring.

Screening

Holter monitor tracing
Holter monitor tracing demonstrating an episode of nonsustained bidirectional ventricular tachycardia. Case courtesy by Michael David Fryer et al[4]
12 lead ECG
A 12 lead ECG recorded from the patient showing frequent polymorphic ectopy. Case courtesy by Michael David Fryer et al[5]


References

  1. Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K; et al. (1993). "GeneReviews®". PMID 20301441.
  2. Spillane, J; Kullmann, D M; Hanna, M G (2015). "Genetic neurological channelopathies: molecular genetics and clinical phenotypes". Journal of Neurology, Neurosurgery & Psychiatry: jnnp-2015–311233. doi:10.1136/jnnp-2015-311233. ISSN 0022-3050.
  3. Fernlund E, Lundin C, Hertervig E, Kongstad O, Alders M, Platonov P (2013). "Novel mutation in the KCNJ2 gene is associated with a malignant arrhythmic phenotype of Andersen-Tawil syndrome". Ann Noninvasive Electrocardiol. 18 (5): 471–8. doi:10.1111/anec.12074. PMID 24047492.
  4. "Recurrent syncope in the Andersen Tawil syndrome – Cardiac or neurological?".
  5. "Recurrent syncope in the Andersen Tawil syndrome – Cardiac or neurological?".

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