Phenotypic Characterization of a Large European Family with Brugada Syndrome Displaying a Sudden Unexpected Death Syndrome Mutation in SCN5A: Female Predominance in the Signs and Symptoms of the Disease

Journal of Cardiovascular Electrophysiology

Volumn 15, Issue 1, 2004, Pages 64-69

  Hong, Kui ^a   Berruezo Sanchez, Antonio ^b   Poungvarin, Naravat ^a   Oliva, Antonio ^a   Vatta, Matteo ^c   Brugada, Josep ^d   Brugada, Pedro ^e   Towbin, Jeffrey A ^c   Dumaine, Robert ^a   Piñero Galvez, Carlos ^b   Antzelevitch, Charles ^a   Brugada, Ramon ^a  

^a MASONIC MEDICAL RESEARCH LABORATORY   (United States)

^b HOSPITAL UNIVERSITARIO PUERTA DEL MAR   (Spain)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d HOSPITAL CLÍNIC   (Spain)

^e Cardiovasc Res Teach Inst Aalst   (Belgium)

Author keywords

Arrhythmias; SCN5A; Sodium channel blocker; Sudden unexpected death syndrome

Indexed keywords

AJMALINE; MEMBRANE PROTEIN; PROTEIN SCN5A; SODIUM CHANNEL; UNCLASSIFIED DRUG;

ARTICLE; BRUGADA SYNDROME; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; ELECTROCARDIOGRAM; EUROPE; FEMALE; GENE; GENE FUNCTION; GENE LOCUS; GENE SEQUENCE; GENETIC RISK; GENETIC SCREENING; HAPLOTYPE; HEART VENTRICLE ARRHYTHMIA; HUMAN; HYPOTHESIS; MALE; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SCN5A GENE; SEQUENCE ANALYSIS; SEX DIFFERENCE; SODIUM CHANNEL SCN5A; SUDDEN DEATH;

ADULT; AJMALINE; ANTI-ARRHYTHMIA AGENTS; ARRHYTHMIA; BUNDLE-BRANCH BLOCK; COMORBIDITY; DEATH, SUDDEN; ELECTROCARDIOGRAPHY; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; SEX DISTRIBUTION; SODIUM CHANNELS; SPAIN; SYNDROME;

EID: 9144253862     PISSN: 10453873     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1540-8167.2004.03341.x     Document Type: Article

References (22)

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, Brugada J, Brugada R, Shimizu W, Gussak I, Perez Riera AR: Brugada syndrome: A decade of progress. Circ Res 2002;91:1114-1118.
3. Chen Q, Kirsch GE, Zhang D, Brugada R, Brugada J, Brugada P, Potenza D, Moya A, Borggrefe M, Breithardt G, Ortiz-Lopez R, Wang Z, Antzelevitch C, O'Brien RE, Schultze-Bahr E, Keating MT, Towbin JA, Wang Q: Genetic basis and molecular mechanisms for idiopathic ventricular fibrillation. Nature 1998;392:293-296.
4. Remme CA, Wever EFD, Wilde AAM, Derksen R, Hauer RNW: Diagnosis and long-term follow-up of Brugada syndrome in patients with idiopathic ventricular fibrillation. Eur Heart J 2001;22:400-4009.
5. Wilde AA, Antzelevitch C, Borggrefe M, Brugada J, Brugada R, Brugada P, Corrado D, Hauer RN, Kass RS, Nademanee K, Priori SG, Towbin JA: Proposed diagnostic criteria for the Brugada syndrome: Consensus report. Circulation 2002;106:2514-2519.
6. Priori SG, Napolitano C, Gasparini M, Pappone C, Della Bella P, Giordano U, Bloise R, Giustetto C, De Nardis R, Grillo M, Ronchetti E, Faggiano G, Nastoli J: Natural history of Brugada syndrome: Insights for risk stratification and management. Circulation 2002;105:1342-1347.
7. Nademanee K, Veerakul G, Nimmannit S, Chaowakul V, Bhuripanyo K, Likittanasombat K, Tunsanga K, Kuasirikul S, Malasit P, Tansupasawadikul S, Tatsanavivat P: Arrhythmogenic marker for the sudden unexplained death syndrome in Thai men. Circulation 1997;96:2595-600.
8. Vatta M, Dumaine R, Varghese G, Richard TA, Shimizu W, Aihara N, Nademanee K, Brugada R, Brugada J, Veerakul G, Li H, Bowles NE, Brugada P, Antzelevitch C, Towbin JA: Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. Hum Mol Genet 2002;11:337-345.
9. Roden DM, Lazzara R, Rosen MR, Schwartz PJ, Towbin JA, Vincent GM: The SADS Foundation Task Force on LQTS, Antzelevitch C, Brown AM, Colatsky TJ, Crampton RS, Kass RS, Moss AJ, Sanguinetti MC, Zipes DP: Multiple mechanisms in the long-QT syndrome: Current knowledge, gaps, and future directions. Circulation 1996;94:1996-2012.
10. Brugada J, Brugada R, Antzelevitch C, Towbin J, Nademanee K, Brugada P: Long-term follow-up of individuals with the electrocardiographic pattern of right bundle-branch block and ST-segment elevation in precordial leads V(1) to V(3). Circulation 2002;105:73-78.
11. Vatta M, Dumaine R, Antzelevitch C, Brugada R, Li H, Bowles NE, Nademanee K, Brugada J, Brugada P, Towbin JA: Novel mutations in domain I of SCN5A cause Brugada syndrome. Mol Genet Metab 2002;75:317-324.
12. Brugada R, Brugada J, Kirsch GE, Wang Q, Antzelevitch C, Potenza D, Towbin JA, Bruelle P: Sodium channel blockers identify risk for sudden death in patients with ST segment elevation and RBBB but structurally normal hearts. Circulation 2000;8:510-515.
13. Priori SG, Napolitano C, Gasparini M, Pappone C, Della Bella P, Brignole M, Giordano U, Giovannini T, Menozzi C, Bloise R, Crotti L, Terreni L, Schwartz PJ: Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome: A prospective evaluation of 52 families. Circulation 2000;102:2509-2515.
14. Dumaine R, Towbin JA, Brugada P, Vatta M, Nesterenko VV, Nesterenko DV, Brugada R, Antzelevitch C: Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent. Circ Res 1999;85:803-809.
15. Bezzina CR, Rook MB, Wilde AA: Cardiac sodium channel and inherited arrhythmia syndromes. Cardiovasc Res 2001;49:257-271.
16. Kyndt F, Probst V, Potet F, Demolombe S, Chevallier JC, Baro I, Moisan JP, Boisseau P, Schott JJ, Escande D, Le Marec H: Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family. Circulation 2001;104:3081-3086.
17. Di Diego JM, Cordeiro JM, Goodrow RJ, Fish JM, Zygmunt AC, Perez GJ, Scornik FS, Antzelevitch C: Ionic and cellular basis for the predominance of the Brugada syndrome phenotype in males. Circulation 2002;106:2004-2011.
18. Shimizu W, Antzelevitch C, Suyama K, Kurita T, Taguchi A, Aihara N, Takaki H, Sunagawa K, Kamakura S: Effect of sodium channel blockers on ST segment, QRS duration, and corrected QT interval in patients with Brugada syndrome. J Cardiovasc Electrophysiol 2000;11:1320-1329.
19. Van Langen IM, Birnie E, Alders M, Jongbloed RJ, Le Marec H, Wilde AA: The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome. J Med Genet 2003;40:141-145.
20. Paulussen A, Matthijs G, Gewillig M, Verhasselt P, Cohen N, Aerssens J: Mutation analysis in congenital long QT syndrome: A case with missense mutations in KCNQ1 and SCN5A. Genet Test 2003;7:57-61.
21. Yan GX, Antzelevitch C: Cellular basis for the Brugada syndrome and other mechanisms of arrhythmogenesis associated with ST segment elevation. Circulation 1999;100:1660-1666.
22. Antzelevitch C: The Brugada syndrome: Ionic basis and arrhythmia mechanisms. J Cardiovasc Electrophysiol 2001;12:268-272.