Andersen-Tawil syndrome historical perspective: Difference between revisions

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{{Andersen-Tawil syndrome}}
{{Andersen-Tawil syndrome}}
{{CMG}}; {{AE}} {{CP}}; {{RT}}
{{CMG}}; {{AE}} {{VKG}}


==Overview==
==Overview==
It is named for Ellen Andersen<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>and R. Tawil.<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><ref>{{WhoNamedIt|synd|3410}}</ref>
[[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 ==


=== Discovery ===
* 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.
* There is limited information about the historical perspective of [disease name].
*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.
OR
*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]].
* [Disease name] was first discovered by [name of scientist], a [nationality + occupation], in [year]/during/following [event].
 
* The association between [important risk factor/cause] and [disease name] was made in/during [year/event].
* In [year], [scientist] was the first to discover the association between [risk factor] and the development of [disease name].
* In [year], [gene] mutations were first implicated in the pathogenesis of [disease name].
 
=== Landmark Events in the Development of Treatment Strategies ===
 
=== Impact on Cultural History ===
 
=== Famous Cases ===
The following are a few famous cases of [disease name]:


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
 
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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

References

  1. 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.
  2. 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.
  3. 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.