Structural heart disease, SCN5A gene mutations, and Brugada syndrome: A complex ménage à trois

Circulation

Volumn 112, Issue 24, 2005, Pages 3672-3674

  Saffitz, Jeffrey E ^a,b  

^a HARVARD MEDICAL SCHOOL   (United States)

^b BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

Author keywords

Brugada syndrome; Cardiovascular diseases; Editorials; Ion channels; Pathology

Indexed keywords

ARRHYTHMOGENESIS; BRUGADA SYNDROME; EDITORIAL; ELECTROCARDIOGRAPHY; ERGOMETRY; GENE; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; HEART DISEASE; HEART VENTRICLE TACHYCARDIA; HUMAN; LONG QT SYNDROME; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SCN5A GENE; ST SEGMENT ELEVATION; SUDDEN DEATH; SYNCOPE; GENETICS; HEART MUSCLE CONDUCTION SYSTEM; NOTE; PATHOLOGY; PATHOPHYSIOLOGY; POINT MUTATION; SINUS NODE; SYNDROME;

MUSCLE PROTEIN; SCN5A PROTEIN, HUMAN; SODIUM CHANNEL;

HEART CONDUCTION SYSTEM; HEART DISEASES; HUMANS; LONG QT SYNDROME; MUSCLE PROTEINS; POINT MUTATION; SINOATRIAL NODE; SODIUM CHANNELS; SYNDROME;

EID: 33644874728     PISSN: 00097322     EISSN: None     Source Type: Journal    
DOI: 10.1161/CIRCULATIONAHA.105.587147     Document Type: Editorial

References (10)

1. Antzelevich C, Brugada P, Borggrefe M, Brugada J, Brugada R, Corrado D, Gussak I, Le Marec H, Nadamanee K, Perez Riera AR, Shimizu W, Schulze-Bahr E, Tan H, Wilde A. Brugada syndrome: report of the Second Consensus Conference. Circulation. 2005;111:659-670.
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, Antzelevich 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. Wang Q, Shen J, Splawski I, Atkinson D, Li Z, Robinson JS, Moss AJ, Towbin JA, Keating MT. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell. 1995;80:805-811.
4. Schott JJ, Alshinawi C, Kyndt R, Probst V, Hoorntje TM, Hulsbeek M, Wilde AA, Escande D, Mannens MM, Le Marec H. Cardiac conduction defects associate with mutations in SCN5A. Nat Genet. 1999;23:20-21.
5. Frustaci A, Priori SG, Pieroni M, Chimenti C, Napolitano C, Rivolta I, Sanna T, Bellocci F, Russo MA. Cardiac histological substrate in patients with clinical phenotype of Brugada syndrome. Circulation. 2005;112:3680-3687.
6. Royer A, van Veen TA, Le Bouter S, Marionneau C, Griol-Charhbili V, Leoni AL, Steenman M, van Rijen HV, Demolombe S, Goddard CA, Richer C, Escoubet B, Jarry-Guichard T, Colledge WH, Gros D, de Bakker JM, Grace AA, Escande D, Charpentier F. Mouse model of SCN5A-linked hereditary Lenegre's disease: age-related conduction slowing and myocardial fibrosis. Circulation. 2005;111:1738-1746.
7. Corrado D, Nava A, Buja G, Martini B, Fasoli G, Oselladore L, Turrini P, Thiene G. Familial cardiomyopathy underlies syndrome of right bundle branch block, ST-segment elevation and sudden death. J Am Coll Cardiol. 1996;27:443-448.
8. Corrado D, Basso C, Buja G, Nava A, Rossi L, Thiene G. Right bundle branch block, right precordial ST-segment elevation, and sudden death in young people. Circulation. 2001;103:710-717.
9. Bezzina CR, Rook MB, Groenewegen A, Herfst LJ, van der Wal AC, Lam J, Jongsma HJ, Wilde AAM, Mannens MM. Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system. Circ Res. 2003;92:159-168.
10. Papavassiliu T, Wolpert C, Flüchter S, Schimpf R, Neff W, Haase KK, Düber C, Borggrefe M. Magnetic resonance imaging findings in patients with Brugada syndrome. J Cardiovasc Electrophysiol. 2004;15:1133-1138.