Andersen-Tawil syndrome historical perspective

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.

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.

↑ 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.