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

Research output: Contribution to journalArticlepeer-review

24 Citations (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.

Original languageEnglish
Pages (from-to)548-558
Number of pages11
JournalJournal of the Formosan Medical Association
Issue number7
Publication statusPublished - Jan 1 2008
Externally publishedYes


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

ASJC Scopus subject areas

  • General Medicine


Dive into the research topics of 'Arrhythmogenic right ventricular dysplasia: Clinical characteristics and identification of novel desmosome gene mutations'. Together they form a unique fingerprint.

Cite this