Andersen-Tawil syndrome screening: Difference between revisions
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==Screening== | ==Screening== | ||
* 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 mutation and have no | * 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> | ||
** 24-hour Holter monitoring | ** 24-hour Holter monitoring |
Revision as of 04:37, 3 February 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
There is insufficient evidence to recommend routine screening for Andersen-Tawil syndrome.
Screening
- There is insufficient evidence to recommend routine screening for Andersen-Tawil syndrome.
- But when a patient with positive KCNJ2 mutation and have no symptoms in Andersen-Tawil syndrome yearly screening with the following should be considered:
References
- ↑ Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K; et al. (1993). "GeneReviews®". PMID 20301441.
- ↑ 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.