Arrhythmogenic Right Ventricular Dysplasia: Clinical Characteristics and Identification of Novel Desmosome Gene Mutations

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• 作者：Chih-Chieh Yu ; Cheng-Han Yu ; Chia-Hsiang Hsueh ; Chi-Tung Yang ; Jyh-Ming Juang ; Juey-Jen Hwang ; Jiunn-Lee Lin ; Ling-Ping Lai
• 关键词：arrhythmogenic right ventricular dysplasia ; desmosomes ; DNA mutational analysis ; genes
• 刊名：Journal of the Formosan Medical Association
• 出版年：2008
• 出版时间：July 2008
• 年：2008
• 卷：107
• 期：7
• 页码：548-558
• 全文大小：640 K

文摘

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 (ECG), 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.