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. 2013 Jun-Jul;106(6-7):366-72.
doi: 10.1016/j.acvd.2013.04.007. Epub 2013 Jun 28.

Dual phenotypic transmission in Brugada syndrome

Jean-Sylvain Hermida  1 , Elise Arnalsteen-Dassonvalle, Maciej Kubala, Amel Mathiron, Sarah Traulle, Kolandaswamy Anbazhagan, Alexis Hermida, Jacques Rochette
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Free article

Dual phenotypic transmission in Brugada syndrome

Jean-Sylvain Hermida et al. Arch Cardiovasc Dis. 2013 Jun-Jul.
Free article

Abstract

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.

Keywords: BS; Brugada syndrome; ECG; LQTS; Phenotype; Phénotype; SCN5A mutation; Syndrome de Brugada; electrocardiogram; long QT syndrome.

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