Andersen-Tawil syndrome historical perspective: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Andersen-Tawil syndrome}} | {{Andersen-Tawil syndrome}} | ||
{{CMG}}; {{AE}} {{ | {{CMG}}; {{AE}} {{VKG}} | ||
==Overview== | ==Overview== | ||
[[Andersen-Tawil syndrome]] ([[Andersen-Tawil syndrome|ATS]]) is a very [[rare]] syndrome which is characterized by [[periodic paralysis]], [[arrhythmias]] and long [[QT interval|QT]] interval. Ellen Andersen was the first to describe the [[Andersen-Tawil syndrome]] ([[Andersen-Tawil syndrome|ATS]]) in 1971. | |||
== Historical Perspective == | == Historical Perspective == | ||
* In 1971, Ellen Andersen et al was the first to report the [[symptoms]] of the [[syndrome]] which includes [[short stature]], [[hypertelorism]], broad nasal root, [[mandibular]] [[hypoplasia]], [[scaphocephaly]], and [[clinodactyly]] in an 8 year old boy.<ref>{{cite journal |author=Andersen ED, Krasilnikoff PA, Overvad H |title=Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome? |journal=Acta paediatrica Scandinavica |volume=60 |issue=5 |pages=559-64 |year=1971 |pmid=4106724|doi=}}</ref><ref name="pmid8080508">{{cite journal |author=Tawil R, Ptacek LJ, Pavlakis SG, ''et al'' |title=Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features |journal=Ann. Neurol. |volume=35 |issue=3 |pages=326-30 |year=1994|pmid=8080508|doi=10.1002/ana.410350313}}</ref> | |||
*In 1976, Stubbs described bidirectional [[ventricular tachycardia]] in a women. | |||
* | *In 1977, Sansone et al reported the symptoms of [[periodic paralysis]], [[Ventricular arrhythmias|ventricular arrhythmia]] in a patient. | ||
*In 1994, Tawil gave the name [[Andersen-Tawil syndrome|Andersen syndrome]] for a clinical triad which consists of [[periodic paralysis]], [[ventricular ectopy]], and dysmorphic features. | |||
*In 1994, Tawil made a significant contributions to the understanding that Andersen's syndrome is different from other [[long QT syndrome]] demonstrating lack of [[Genetics|genetic]] linkage.<ref name="pmid80805082">{{cite journal| author=Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C et al.| title=Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. | journal=Ann Neurol | year= 1994 | volume= 35 | issue= 3 | pages= 326-30 | pmid=8080508 | doi=10.1002/ana.410350313 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8080508 }}</ref> | |||
* In 2002, Andelfinger et al identified [[Missense mutations|missense mutation]] in [[KCNJ2]] gene were first implicated in the [[pathogenesis]] of [[Andersen-Tawil syndrome]]. | |||
* In [ | |||
* In [ | |||
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==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
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[[Category:Electrophysiology]] | [[Category:Electrophysiology]] | ||
[[Category:Disease]] | [[Category:Rare Disease]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Cardiology]] | [[Category:Cardiology]] | ||
Latest revision as of 14:51, 17 February 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
Andersen-Tawil syndrome (ATS) is a very rare syndrome which is characterized by periodic paralysis, arrhythmias and long QT interval. Ellen Andersen was the first to describe the Andersen-Tawil syndrome (ATS) in 1971.
Historical Perspective
- In 1971, Ellen Andersen et al was the first to report the symptoms of the syndrome which includes short stature, hypertelorism, broad nasal root, mandibular hypoplasia, scaphocephaly, and clinodactyly in an 8 year old boy.[1][2]
- In 1976, Stubbs described bidirectional ventricular tachycardia in a women.
- In 1977, Sansone et al reported the symptoms of periodic paralysis, ventricular arrhythmia in a patient.
- In 1994, Tawil gave the name Andersen syndrome for a clinical triad which consists of periodic paralysis, ventricular ectopy, and dysmorphic features.
- In 1994, Tawil made a significant contributions to the understanding that Andersen's syndrome is different from other long QT syndrome demonstrating lack of genetic linkage.[3]
- In 2002, Andelfinger et al identified missense mutation in KCNJ2 gene were first implicated in the pathogenesis of Andersen-Tawil syndrome.
References
- ↑ Andersen ED, Krasilnikoff PA, Overvad H (1971). "Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome?". Acta paediatrica Scandinavica. 60 (5): 559–64. PMID 4106724.
- ↑ Tawil R, Ptacek LJ, Pavlakis SG; et al. (1994). "Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features". Ann. Neurol. 35 (3): 326–30. doi:10.1002/ana.410350313. PMID 8080508.
- ↑ Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C; et al. (1994). "Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features". Ann Neurol. 35 (3): 326–30. doi:10.1002/ana.410350313. PMID 8080508.