Clinical heterogeneity in sodium channelopathies: What is the meaning of carrying a genetic mutation?

Cardiology

Volumn 110, Issue 2, 2008, Pages 116-122

  Oliva, Antonio ^a   Bjerregaard, Preben ^b   Hong, Kui ^c   Evans, Steven ^d   Vernooy, Kevin ^e   McCormack, Jorge ^f   Brugada, Josep ^g   Brugada, Pedro ^h   Pascali, Vincenzo L ^a   Brugada, Ramon ⁱ  

^a CATHOLIC UNIVERSITY   (Italy)

^b SAINT LOUIS UNIVERSITY HOSPITAL   (United States)

^c NANCHANG UNIVERSITY   (China)

^d BETH ISRAEL MEDICAL CENTER   (United States)

^e MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^f Pediatric Cardiology Associates   (United States)

^g HOSPITAL CLÍNIC   (Spain)

^h FREE UNIVERSITY OF BRUSSELS   (Belgium)

ⁱ MONTREAL HEART INSTITUTE   (Canada)

Author keywords

Brugada syndrome; SCN5A; Sudden cardiac death; Ventricular fibrillation

Indexed keywords

PROTEIN SCN5A; SODIUM CHANNEL;

ADOLESCENT; ADULT; AGED; ARTICLE; BRUGADA SYNDROME; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; ECG ABNORMALITY; ELECTROCARDIOGRAM; EXON; FAMILY HISTORY; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HEART ARREST; HUMAN; INTRON; LONG QT SYNDROME; MALE; PRIORITY JOURNAL; SODIUM CHANNELOPATHY; SUDDEN DEATH;

BRUGADA SYNDROME; CHILD; DEATH, SUDDEN, CARDIAC; ELECTROCARDIOGRAPHY; FATAL OUTCOME; FEMALE; FRAMESHIFT MUTATION; GENETIC HETEROGENEITY; HUMANS; LONG QT SYNDROME; MUSCLE PROTEINS; MUTATION, MISSENSE; PEDIGREE; SEQUENCE ANALYSIS, DNA; SODIUM CHANNELS;

EID: 43049105050     PISSN: 00086312     EISSN: None     Source Type: Journal    
DOI: 10.1159/000110490     Document Type: Article

References (13)

1. Wang Q, Shen J, Splawski I, Atkinson DL, Li ZZ, Robinson JL, Moss AJ, Towbin JA, Keating MT: SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 1995;80:805-811.
2. 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.
3. Bezzina C, Veldkamp MW, van Den Berg MP, Postma AV, Rook MB, Viersma JW, Van Langen IM, Tan-Sindhunata G, Bink-Boelkens MT, Der Hout AH, Mannens MM, Wilde AA: A single Na(+) channel mutation causing both long-QT and Brugada syndromes. Circ Res 1999;85:1206-1213.
4. Grant AO, Carboni MP, Neplioueva V, Starmer CF, Memmi M, Napolitano C, Priori SG: Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation. J Clin Invest 2002;110:1201-1209.
5. Roberts R, Brugada R: Genetics and arrhythmias. Annu Rev Med 2003;54:257-267.
6. Bezzina C, Veldkamp MW, van Den Berg MP, Postma AV, Rook MB, Viersma JW, van Langen IM, Tan-Sindhunata G, Bink-Boelkens MT, van Der Hout AH, Mannens MM, Wilde AA: A single Na(+) channel mutation causing both long-QT and Brugada syndromes. Circ Res 1999;85:1206-1213.
7. Priori SG, Napolitano C, Gasparini M, Pappone C, Della BP, 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.
8. Hong K, Brugada J, Oliva A, Berruezo-Sanchez A, Potenza D, Pollevick GD, Guerchicoff A, Matsuo K, Burashnikov E, Dumaine R, Towbin JA, Nesterenko V, Brugada P, Antzelevitch C, Brugada R: Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations 2. Circulation 2004;110:3023-3027.
9. Krahn AD, Gollob M, Yee R, Gula LJ, Skanes AC, Walker BD, Klein GJ: Diagnosis of unexplained cardiac arrest: role of adrenaline and procainamide infusion. Circulation 2005;112:2228-2234.
10. 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;1115:659-670.
11. Schwartz PJ, Priori SG, Locati EH, Napolitano C, Cantu F, Towbin JA, Keating MT, Hammoude H, Brown AM, Chen LSK, Colatsky TJ: Long QT syndrome patients with mutations of the SCN5A and HERG genes have differential responses to Na + channel blockade and to increases in heart rate: implications for gene-specific therapy. Circulation 1995;92:3381-3386.
12. Belhassen B, Viskin S: Pharmacologic approach to therapy of Brugada syndrome: quinidine as an alternative to ICD therapy?; in Antzelevitch C, Brugada P, Brugada J, Brugada R (eds): The Brugada Syndrome: from Bench to Bedside. Oxford, Blackwell Futura, 2004, pp 202-211.
13. Hermida JS, Denjoy I, Clerc J, Extramiana F, Jarry G, Milliez P, Guicheney P, Di Fusco S, Rey JL, Cauchemez B, Leenhardt A: Hydroquinidine therapy in Brugada syndrome. J Am Coll Cardiol 2004;43:1853-1860.