Andersen-Tawil syndrome screening: Difference between revisions
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* 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 | ||
Revision as of 14:46, 3 February 2020
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Andersen-Tawil syndrome Microchapters |
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Diagnosis |
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Treatment |
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Case Studies |
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Andersen-Tawil syndrome screening On the Web |
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American Roentgen Ray Society Images of Andersen-Tawil syndrome screening |
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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.
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.
- ↑ 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.