Orphanet: Andersen Tawil syndrome

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Andersen-Tawil syndrome

Disease definition

A rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.

ORPHA:37553

Classification level: Disorder

Synonym(s):
- Andersen syndrome
- LQT7
- Long QT syndrome type 7
Prevalence: Unknown
Inheritance: Autosomal dominant
Age of onset: Childhood
ICD-10: G72.3
ICD-11: BC65.0
OMIM: 170390
UMLS: C1563715
MeSH: D050030
GARD: 9453
MedDRA: 10083859

Summary

Etiology

Mutations in KCNJ2, which encodes the alpha subunit of the potassium channel Kir2.1, account for approximately 60% of cases.

Genetic counseling

AS is inherited as an autosomal dominant trait although sporadic cases have been reported. Penetrance is extremely variable.

Management and treatment

Treatment depends on the individual and their reaction to potassium. Patients with severe arrhythmias may require a pacemaker.

- Last update: April 2016

A summary on this disease is available in Français (2006) Italiano (2006) Deutsch (2016) Español (2016) Nederlands (2016)

Detailed information

Guidelines

Emergency guidelines
Français (2017, pdf) - Orphanet Urgences

Clinical practice guidelines
Deutsch (2012) - AWMF
Français (2021) - PNDS

Disease review articles

Clinical genetics review
English (2018) - GeneReviews

Genetic Testing

Guidance for genetic testing
English (2013) - Eur J Hum Genet
Français (2017, pdf) - ANPGM

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