Dual phenotypic transmission in Brugada syndrome

• Published in: Archives of cardiovascular diseases 2013-06, Vol.106 (6), p.366-372
• Main Authors: Hermida, Jean-Sylvain, Arnalsteen-Dassonvalle, Élise, Kubala, Maciej, Mathiron, Amel, Traulle, Sarah, Anbazhagan, Kolandaswamy, Hermida, Alexis, Rochette, Jacques
• Format: Article
• Language: English
• Subjects: Adolescent; Adult; Ajmaline; Anti-Arrhythmia Agents; Brugada syndrome; Brugada Syndrome - complications; Brugada Syndrome - diagnosis; Brugada Syndrome - genetics; Brugada Syndrome - therapy; Cardiovascular; Child, Preschool; Death, Sudden, Cardiac - etiology; Death, Sudden, Cardiac - prevention & control; DNA Mutational Analysis; Electrocardiography; Electrophysiologic Techniques, Cardiac; Female; Genetic Carrier Screening; Genetic Predisposition to Disease; Genetic Testing - methods; Heredity; Heterozygote; Humans; Internal Medicine; Male; Mutation; NAV1.5 Voltage-Gated Sodium Channel - genetics; Pedigree; Phenotype; Phénotype; Predictive Value of Tests; Resuscitation; SCN5A mutation; Syndrome de Brugada; Young Adult
• ISSN: 1875-2136; 1875-2128
• DOI: 10.1016/j.acvd.2013.04.007

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.