Arrhythmogenic right ventricular dysplasia: Clinical characteristics and identification of novel desmosome gene mutations

Chih Chieh Yu, Cheng Han Yu, Chia Hsiang Hsueh, Chi Tung Yang, Jyh Ming Juang, Juey Jen Hwang, Jiunn Lee Lin, Ling Ping Lai

研究成果: 雜誌貢獻文章同行評審

24 引文 斯高帕斯(Scopus)


Background/Purpose: Desmosome gene mutations have been reported in patients with arrhythmogenic right ventricular dysplasia (ARVD). However, there are hardly any genetic studies in Asians. We studied the clinical characteristics, cardiac manifestations and desmosome gene mutations in ARVD patients in Taiwan. Methods: Medical records of five ARVD patients were reviewed and genomic DNA was obtained from peripheral blood samples. Mutation screening in desmoplakin (DSP), plakophilin-2, desmoglein-2 (DSG2) and desmocollin-2 genes was performed using polymerase chain reaction and DNA sequencing techniques. Results: Among the five patients, three presented with palpitations followed by loss of consciousness, and the other two had palpitations or chest tightness without loss of consciousness. Electrocardiogram (EGG), magnetic resonance imaging and signal averaged ECG results were similar to those reported in Western countries. Mutations in the desmosome genes were identified in four of the five patients (three with a DSG2 mutation and one with a DSP mutation). Five gene mutations were noted in four patients and all mutations were novel (one patient had a DSG2 double mutation). The mutation types were missense in four and splicing mutation in one. Conclusion: Patients with ARVD in Taiwan had similar clinical and cardiac manifestations as reported in the Western literature. More than half of the patients had desmosome gene mutations.
頁(從 - 到)548-558
期刊Journal of the Formosan Medical Association
出版狀態已發佈 - 1月 1 2008


  • Arrhythmogenic right ventricular dysplasia
  • Desmosomes
  • DNA mutational analysis
  • Genes

ASJC Scopus subject areas

  • 醫藥 (全部)


深入研究「Arrhythmogenic right ventricular dysplasia: Clinical characteristics and identification of novel desmosome gene mutations」主題。共同形成了獨特的指紋。