Andersen-Tawil syndrome screening: Difference between revisions
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==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>]] | |||
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==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Latest revision as of 14:58, 17 February 2020
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Andersen-Tawil syndrome Microchapters |
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Diagnosis |
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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. But when a patient with positive KCNJ2 mutation follow the patient with ECG and holter monitoring.
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:
- A 12-lead ECG[1][2][3]
- 24-hour Holter monitoring
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.
- ↑ "Recurrent syncope in the Andersen Tawil syndrome – Cardiac or neurological?".
- ↑ "Recurrent syncope in the Andersen Tawil syndrome – Cardiac or neurological?".