Brugada syndrome in a family with a high mortality rate: a case report

Journal of Medical Case Reports

Giovanny Rebouças Pinto¹  France Keiko Nascimento Yoshioka¹  Rommel Rodríguez Burbano⁴  Juan Antonio Rey²  Renata Canalle¹  Fábio José Nascimento Motta¹  Cassandra Mirtes Andrade Rego Barros³  Hygor Ferreira Fernandes¹  Marcos Aurélio Lima Barros³ 

[1] Genetics and Molecular Biology Laboratory, Federal University of Piauí, Av. São Sebastião 2819, Parnaíba, PI 64202-020, Brazil;Research Unit, Unidad de Investigación, Hospital Universiatrio La Paz, Paseo Castellana 261, Madrid, 28046, Spain;Marcor Clinic, Maximum Body Care and Recovery, Av. Presidente Vargas 811, Parnaíba, PI 64200-200, Brazil;Human Cytogenetics Laboratory, Federal University of Pará, R. Augusto Corrêa 01, Belém, PA 66075-110, Brazil

关键词: SCN5A;    Mutation-negative;    High family mortality;    GPD1L;    Brugada syndrome;   

Others  :  1181241
DOI  :  10.1186/1752-1947-7-78

 received in 2012-10-28, accepted in 2013-01-22,  发布年份 2013

【 摘 要 】

Introduction

Brugada syndrome is a hereditary arrhythmia characterized by a specific electrocardiographic pattern and an increased risk of sudden cardiac death, with an apparent absence of structural abnormalities or ischemic heart disease. To date, mutations in the sodium channel, voltage-gated, type V, alpha subunit gene and glycerol-3-phosphate dehydrogenase 1-like gene are estimated to account for approximately 28% of Brugada syndrome probands.

Case presentation

We report the case of a 32-year-old mixed-race Brazilian man who is sodium channel, voltage-gated, type V, alpha subunit gene and glycerol-3-phosphate dehydrogenase 1-like gene mutation-negative with a type 1 Brugada electrocardiographic pattern and a history of high family mortality, including five sudden deaths among relatives of whom four were first-degree relatives.

Conclusion

To the best of our knowledge, this is the first case of a patient who has Brugada syndrome and a history of sudden death in four first-degree family members. This case report reinforces the evidence that genetic studies are of limited use while determining risk but remain helpful for diagnosis, and that diagnosis via electrocardiography is of great importance in preventing adverse events and stratifying risk. Although there are several technologically advanced diagnostic tools, they might not be accessible in small towns and hospitals; however, a basic diagnostic tool like electrocardiography is easily accessible.

【 授权许可】

   
2013 Barros et al.; licensee BioMed Central Ltd.

【 图 表 】

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【 参考文献 】

• [1]Brugada P, Brugada J: Right bundle branch block, persistent ST segment elevation and sudden cardiac death: a distinct clinical and electrocardiographic syndrome. A multicenter report. J Am Coll Cardiol 1992, 20:1391-1396.
• [2]Antzelevitch C, Brugada P, Borggrefe M, Brugada J, Brugada R, Corrado D, Gussak I, LeMarec H, Nademanee K, Perez Riera AR, Shimizu W, Schulze-Bahr E, Tan H, Wilde A: Brugada syndrome: report of the second consensus conference: endorsed by the heart rhythm society and the European heart rhythm association. Circulation 2005, 111:659-670.
• [3]Tie K, Xin T, Shuoyan Z, Yuhua L, Qing KW: Molecular genetics of Brugada syndrome. Front Biol 2010, 5:339-347.
• [4]Sociedade Brasileira de Arritmias Cardíacas – SOBRAC/SBC, Departamento de Estimulação Cardíaca Artificial – DECA/SBCCV: Diretrizes brasileiras de dispositivos cardíacos eletrônicos implantáveis (DCEI). Arq Bras Cardiol 2007, 89:e210-e237.
• [5]Tester DJ, Ackerman MJ: Cardiomyopathic and channelopathic causes of sudden unexplained death in infants and children. Annu Rev Med 2009, 2009(60):69-84.
• [6]García-Castro M, García C, Reguero JR, Miar A, Rubín JM, Alvarez V, Morís C, Coto E: The spectrum of SCN5A gene mutations in Spanish Brugada syndrome patients. Rev Esp Cardiol 2010, 63:856-859.
• [7]Gehi AK, Duong TD, Metz LD, Gomes JA, Mehta D: Risk stratification of individuals with the Brugada electrocardiogram: a meta-analysis. J Cardiovasc Electrophysiol 2006, 17:577-583.
• [8]Lippi G, Montagnana M, Meschi T, Comelli I, Cervellin G: Genetic and clinical aspects of Brugada syndrome: an update. Adv Clin Che 2012, 56:197-208.
• [9]Probst V, Wilde AA, Barc J, Sacher F, Babuty D, Mabo P, Mansourati J, Le Scouarnec S, Kyndt F, Le Caignec C, Guicheney P, Gouas L, Albuisson J, Meregalli PG, Le Marec H, Tan HL, Schott JJ: SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome. Circ Cardiovasc Genet 2009, 2:552-557.
• [10]Makiyama T, Akao M, Haruna Y, Tsuji K, Doi T, Ohno S, Nishio Y, Kita T, Horie M: Mutation analysis of the glycerol-3 phosphate dehydrogenase-1 like (GPD1L) gene in Japanese patients with Brugada syndrome. Circ J 2008, 72:1705-1706.
• [11]Chen JZ, Xie XD, Wang XX, Tao M, Shang YP, Guo XG: Single nucleotide polymorphisms of the SCN5A gene in Han Chinese and their relation with Brugada syndrome. Chin Med J (Engl) 2004, 117:652-656.
• [12]Lizotte E, Junttila MJ, Dube MP, Hong K, Benito B, DE Zutter M, Henkens S, Sarkozy A, Huikuri HV, Towbin J, Vatta M, Brugada P, Brugada J, Brugada R: Genetic modulation of Brugada syndrome by a common polymorphism. J Cardiovasc Electrophysiol 2009, 20:1137-1141.