Andersen-Tawil syndrome historical perspective

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Overview

It is named for Ellen Andersen[1]and R. Tawil.[2]

Historical Perspective

Discovery

  • There is limited information about the historical perspective of [disease name].

OR

  • [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 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.
  • 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.
  • In 2002, Andelfinger et al identified missense mutation in KCNJ2 gene were first implicated in the pathogenesis of Andersen-Tawil syndrome.

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

  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.