Andersen-Tawil syndrome with high-burden ventricular arrhythmias: a case report

Andersen-Tawil syndrome (ATS) is a rare autosomal dominant genetic disorder. Its main clinical manifestations include severe ventricular arrhythmias (VA), periodic paralysis, and facial and skeletal dysplasia. Due to the lack of awareness of this disease, it is highly prone to missed diagnosis and misdiagnosis. This case report presents a young female who presented with abnormal electrocardiogram during physical examination, had poor efficacy after radiofrequency ablation treatment, and was finally diagnosed with Andersen-Tawil syndrome (ATS) by genetic testing, providing a reference for the diagnosis and treatment of this rare clinical disease.

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Publication Details

Journal
BMC Cardiovascular Disorders
Published
2026-02-25
DOI
https://doi.org/10.1186/s12872-026-05649-4
Primary Topic
Glycogen Storage Diseases and Myoclonus
Type
article
Field-Weighted Citation Impact
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article

Andersen-Tawil syndrome with high-burden ventricular arrhythmias: a case report

Jia Gao, Min Guo, Rui Wang, Ruiting Feng et al.
BMC Cardiovascular Disorders
Glycogen Storage Diseases and Myoclonus
article

Andersen-Tawil syndrome with high-burden ventricular arrhythmias: a case report

Jia Gao, Min Guo, Rui Wang, Ruiting Feng, Xiaohong Fu, Yuli Guo
article en

Abstract

Andersen-Tawil syndrome (ATS) is a rare autosomal dominant genetic disorder. Its main clinical manifestations include severe ventricular arrhythmias (VA), periodic paralysis, and facial and skeletal dysplasia. Due to the lack of awareness of this disease, it is highly prone to missed diagnosis and misdiagnosis. This case report presents a young female who presented with abnormal electrocardiogram during physical examination, had poor efficacy after radiofrequency ablation treatment, and was finally diagnosed with Andersen-Tawil syndrome (ATS) by genetic testing, providing a reference for the diagnosis and treatment of this rare clinical disease.

BMC Cardiovascular Disorders
Shanxi Medical University (CN), First Hospital of Shanxi Medical University (CN)
Openalex Percentile: Top 46%
Glycogen Storage Diseases and Myoclonus
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