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<p>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.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年2月25日

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  • Ruiting Feng,
  • Jia Gao,
  • Yuli Guo,
  • Zengfu Zhang,
  • Xiaohong Fu,
  • Rui Wang,
  • Min Guo

摘要

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.