Novel Brugada SCN5A mutation causing sudden death in children

Heart Rhythm

Volumn 2, Issue 5, 2005, Pages 540-543

  Todd, Stephanie J ^a   Campbell, M Jay ^a   Roden, Dan M ^a   Kannankeril, Prince J ^a,b  

^a VANDERBILT UNIVERSITY MEDICAL CENTER   (United States)

^b MONROE CARELL JR CHILDREN S HOSPITAL AT VANDERBILT   (United States)

Author keywords

Brugada syndrome; Children; Sudden death

Indexed keywords

CONNEXIN 40; CYSTEINE; MEMBRANE PROTEIN; PROCAINAMIDE; SODIUM CHANNEL; TYROSINE;

ARTICLE; BRAIN ISCHEMIA; BRUGADA SYNDROME; CARDIOVERSION; CASE REPORT; DEATH; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; EMERGENCY WARD; FAMILY STUDY; FEMALE; FEVER; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HEART ARREST; HEART RIGHT BUNDLE BRANCH BLOCK; HEART VENTRICLE FIBRILLATION; HOMOZYGOSITY; HUMAN; PHENOTYPE; POINT MUTATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; SINUS RHYTHM; ST SEGMENT; SUDDEN DEATH; T WAVE; TREATMENT WITHDRAWAL;

ARRHYTHMIA; BUNDLE-BRANCH BLOCK; DEATH, SUDDEN; ELECTROCARDIOGRAPHY; FATAL OUTCOME; FEMALE; HUMANS; INFANT; PEDIGREE; POINT MUTATION; SODIUM CHANNELS;

EID: 17144399520     PISSN: 15475271     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.hrthm.2005.01.029     Document Type: Article

References (16)

1. D.W. Benson D.W. Wang M. Dyment T.K. Knilans F.A. Fish M.J. Strieper T.H. Rhodes A.L. George Jr. Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A) J Clin Invest 112 2003 1019-1028
2. W.A. Groenewegen M. Firouzi C.R. Bezzina S. Vliex I.M. van Langen L. Sandkuijl J.P. Smits M. Hulsbeek M.B. Rook H.J. Jongsma A.A. Wilde A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill Circ Res 92 2003 14-22
3. S.G. Priori C. Napolitano U. Giordano G. Collisani M. Memmi Brugada syndrome and sudden cardiac death in children Lancet 355 2000 808-809
4. P.J. Schwartz S.G. Priori R. Dumaine C. Napolitano C. Antzelevitch M. Stramba-Badiale T.A. Richard M.R. Berti R. Bloise A molecular link between the sudden infant death syndrome and the long-QT syndrome N Engl J Med 343 2000 262-267
5. J. Brugada R. Brugada P. Brugada Right bundle-branch block and ST-segment elevation in leads V1 through V3: A marker for sudden death in patients without demonstrable structural heart disease Circulation 97 1998 457-460
6. J. Brugada R. Brugada C. Antzelevitch J. Towbin K. Nademanee P. Brugada Long-term follow-up of individuals with the electrocardiographic pattern of right bundle-branch block and ST-segment elevation in precordial leads V1 to V3 Circulation 105 2002 73-78
7. R. Brugada J. Brugada C. Antzelevitch G.E. Kirsch D. Potenza J.A. Towbin P. Brugada Sodium channel blockers identify risk for sudden death in patients with ST-segment elevation and right bundle branch block but structurally normal hearts Circulation 101 2000 510-5515
8. F. Potet P. Mabo G. Le Coq V. Probst J.J. Schott F. Airaud G. Guihard J.C. Daubert D. Escande H. Le Marec Novel Brugada SCN5A mutation leading to ST segment elevation in the inferior or the right precordial leads J Cardiovasc Electrophysiol 14 2003 200-203
9. S.G. Priori C. Napolitano M. Gasparini C. Pappone B.P. Della U. Giordano R. Bloise C. Giustetto R. De Nardis M. Grillo E. Ronchetti G. Faggiano J. Nastoli Natural history of Brugada syndrome: Insights for risk stratification and management Circulation 105 2002 1342-1347
10. R. Dumaine J.A. Towbin P. Brugada M. Vatta D.V. Nesterenko V.V. Nesterenko J. Brugada R. Brugada C. Antzelevitch Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent Circ Res 85 1999 803-809
11. D. Saura A. Garcia-Alberola P. Carrillo D. Pascual J. Martinez-Sanchez M. Valdes Brugada-like electrocardiographic pattern induced by fever Pacing Clin Electrophysiol 25 2002 856-859
12. M.H. Dinckal V. Davutoglu I. Akdemir S. Soydinc A. Kirilmaz M. Aksoy Incessant monomorphic ventricular tachycardia during febrile illness in a patient with Brugada syndrome: Fatal electrical storm Europace 5 2003 257-261
13. P.C. Viswanathan J.R. Balser Inherited sodium channelopathies: A continuum of channel dysfunction Trends Cardiovasc Med 14 2004 28-35
14. C. Bezzina M.W. Veldkamp M.P. van den Berg A.V. Postma M.B. Rook J.W. Viersma I.M. van Langen G. Tan-Sindhunata M.T. Bink-Boelkens A.H. Der Hout M.M. Mannens A.A. Wilde A single Na(+) channel mutation causing both long-QT and Brugada syndromes Circ Res 85 1999 1206-1213
15. A.O. Grant M.P. Carboni V. Neplioueva C.F. Starmer M. Memmi C. Napolitano S. Priori Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation J Clin Invest 110 2002 1201-1209
16. M. Grillo R. Bloise C. Napolitano M. Gasparini U. Giordano S. Leonardi A. Capoferri G. Celano G. Bottelli S. Priori Reappraisal of diagnostic criteria for Brugada syndrome in a large cohort of patients with molecular diagnosis Circulation 110 17 pt III 2004 III693