Andersen-Tawil Syndrome: A Comprehensive Review

Area of Science:

• Cardiology
• Genetics
• Neurology

Background:

• Andersen-Tawil syndrome (ATS) is a rare, autosomal dominant channelopathy.
• Mutations in KCNJ2 and KCNJ5 genes are implicated in ATS types 1 and 2.
• Approximately 30% of cases are sporadic, suggesting other genetic factors.

Purpose of the Study:

• To provide a comprehensive review of Andersen-Tawil syndrome.
• To discuss historical aspects, nomenclature, epidemiology, and genetics.
• To detail electrocardiographic findings, arrhythmias, and diagnostic criteria.

Main Methods:

• Literature review of historical data, genetic studies, and clinical observations.
• Analysis of electrocardiographic and electrophysiological mechanisms.
• Synthesis of diagnostic criteria and management strategies.

Main Results:

• ATS is characterized by periodic paralysis, ECG repolarization abnormalities (QU/QUc prolongation), and physical dysmorphisms.
• Ventricular arrhythmias, particularly bidirectional ventricular tachycardia, are common.
• A distinct neurocognitive phenotype including executive function deficits is observed.

Conclusions:

• ATS is a complex multisystem disorder requiring multidisciplinary management.
• Accurate diagnosis relies on recognizing the triad of symptoms and genetic testing.
• Further research is needed to identify additional causative genes and refine treatment approaches.