- 作者：Jean-Sylvain Hermida ; ¨¦lise Arnalsteen-Dassonvalle ; Maciej Kubala ; Amel Mathiron ; Sarah Traulle ; Kol ; aswamy Anbazhagan ; Alexis Hermida ; Jacques Rochette
- 关键词：Brugada syndrome ; Phenotype ; SCN5A mutation
- 刊名：Archives of Cardiovascular Diseases
- 出版年：2013
- 出版时间：June-July, 2013
- 年：2013
- 卷：106
- 期：6-7
- 页码：366-372
- 全文大小：2404 K
Summary
Background
Brugada syndrome is a genetic heart disease with autosomal dominant inheritance. Family screening commonly detects one parent responsible for transmission of the disease.Aims
To describe atypical transmission of Brugada syndrome.
Methods
Between 2001 and 2007, systematic screening, including an electrocardiogram, ajmaline challenge and DNA sequencing of the SCN5A gene, of the first-degree relatives of 62 probands with Brugada syndrome was performed (Programme Hospitalier de Recherche Clinique).
Results
In two families, both parents transmitted Brugada syndrome to their offspring. In the first family, the proband presented Brugada electrocardiogram features with ajmaline challenge and carried a new SCN5A mutation (p.V1281F). The mutation was also identified in the mother, who had a type 1 aspect on inferior leads with ajmaline. The proband's father presented a typical Brugada electrocardiogram pattern on lead V2 with ajmaline and no SCN5A gene mutation. In the second family, the proband was a boy aged 2.5 years who had been resuscitated from sudden cardiac death. Ajmaline challenge revealed a typical Brugada electrocardiogram pattern in both parents but with no mutation in the genes studied.
Conclusion
Family studies should always be exhaustive and discovery of one parent with Brugada syndrome does not eliminate the need for screening of the other parent.