The Jervell and Lange-Nielsen syndrome. Natural history, molecular basis and clinical outcome;Syndrome de Jervell et Lange-Nielsen. Histoire naturelle, bases moléculaires et devenir clinique

Archives des Maladies du Coeur et des Vaisseaux

Volumn 100, Issue 5, 2007, Pages 359-364

  Denjoy, Isabelle ^a,b,c   Lupoglazoff, J M ^b,c   Villain, E ^d   Vaksmann, G ^e   Godart, F ^f   Lucet, V ^g   Leenhardt, A ^a   Guicheney, P ^c   Schwartz, P ^h  

^a HÔPITAL LARIBOISIÈRE   (France)

^b HÔPITAL ROBERT DEBRÉ   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e Cardiologie Pédiatrique ^*  (France)

^f LILLE UNIVERSITY HOSPITAL   (France)

^g Centre Cardiologique Infantile   (France)

^h UNIVERSITY OF PAVIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BETA ADRENERGIC RECEPTOR BLOCKING AGENT; POTASSIUM CHANNEL; POTASSIUM CHANNEL KCNE1; POTASSIUM CHANNEL KCNQ1; UNCLASSIFIED DRUG;

ARTICLE; CARDIOVASCULAR RISK; CONTROLLED STUDY; EXERCISE; FEMALE; GENE MUTATION; GENETIC CODE; HEART ARRHYTHMIA; HUMAN; LONG QT SYNDROME; MAJOR CLINICAL STUDY; MALE; PRESCHOOL CHILD; SCHOOL CHILD; SYNCOPE;

ADOLESCENT; ADRENERGIC BETA-ANTAGONISTS; ADULT; AGE FACTORS; CHILD; CHILD, PRESCHOOL; DEATH, SUDDEN, CARDIAC; ELECTROCARDIOGRAPHY; EMOTIONS; EXERCISE; FEMALE; HEART ARREST; HUMANS; INFANT; JERVELL-LANGE NIELSEN SYNDROME; KCNQ1 POTASSIUM CHANNEL; MALE; MUTATION; POTASSIUM CHANNELS, VOLTAGE-GATED; RETROSPECTIVE STUDIES; SEX FACTORS; SYNCOPE;

EID: 34347385249     PISSN: 00039683     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

1. Jervell A, Lange-Nielsen F. Congenital deaf-mutism, functionnal heart disease with prolongation of the QT interval and sudden death. Am Heart J 1957 54 : 59-68.
2. Splawski I, Shen J, Timothy K W, et al. Spectrum of Mutations in Long-QT Syndrome Genes : KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation 2000 102 : 1178-85.
3. Neyroud N, Tesson F, Denjoy I, et al. A novel mutation in the K + channel KVLQT1 causes the Jervell and Lange-Nielsen cardioauditory syndrome. Nature Genet 1997 ; 15 : 186-9.
4. Schulze-Bahr E, Haverkamp W, Wedekind, et al. Autosomal recessive long-QT syndrome (Jervell and Lange-Nielsen syndrome) is genetically heteroqeneous. Hum Genet 1997 ; 100 : 573-6.
5. Lupoglazoff JM, Denjoy I, Guicheney P. Apports de la genetique dans la prise en charge du syndrome du QT long congenital. Arch Mal Coeur 2003 ; 96 : 539-47.
6. Schwartz PJ, Spazzolini C, Crotti L, et al. The Jervell and Lange-Nielsen Syndrome. Circulation 2006 ; 113: 783-90.
7. Schwartz PJ, Moss AJ, Vincent GM, Crampton RS. Diagnostic criteria for the long QT syndrome : an update. Circulation. 1993 ; 88 : 782-4.
8. Schwartz PJ, Priori SG, Spazzolini C, et al. Genotype phenotype correlation in the long QT syndrome : specific triggers for life-threatening arrhythmias. Circulation 2001 ; 103 : 89-95.
9. Lupoglazoff JM, Denjoy I, Villain E, et al. Long QT syndrome in neonates. Conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations. J Am Coll Cardiol 2004 ; 43 : 826-30.
10. Splawski I, Timothy KW, Sharpe LM, et al. Cav1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 2004 ; 119 : 19-31.
11. Priori SG, Schwartz PJ, Napolitano C, et al. Risk stratification in the long-QT syndrome. N Engl J Med 2003 ; 348 : 1866-74.
12. Stramba-Badiale M, Spagnolo D, Bosi G, Schwartz PJ on behalf of the MISNES Investigators. Are gender differences in QTc present at birth ? Am J Cardiol 1995 ; 75 : 1277-8.
13. Splawski I, Shen J, Timothy KW, et al. Spectrum of mutations in long-QT syndrome genes. Circulation 2000; 102 : 1178-85.
14. Huang L, Bitner-Glindzicz M, Tranebjaerg L, Tinker A. A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome. Cardiovasc Res 2001 ; 51 : 670-80.
15. Wilde AA, Escande D. LQT genotype-phenotype relationships : patients and patches. Cardiovasc Res 2001 ; 51 : 627-29.
16. Tyson J, Tranebjaerg L, McEntagart M, et al. Mutational spectrum in the cardioauditory syndrome or Jervell and Lange-Nielsen. Hum Genet 2000 ; 107 : 499-503.
17. Priori SG, Napolitano C, Schwartz PJ, et al. Association of long QT syndrome loci and cardiac events among patients treated with beta-blockers. JAMA 2004 ; 292 : 1341-4.
18. Villain E, Denjoy I, Lupoglazoff JM, et al. Low incidence of cardiac events with β-blocking therapy in children with long QT syndrome. Eur Heart J 2004 ; 25 : 1405-11.
19. Schwartz PJ, Priori SG, Cerrone M, et al. Left cardiac sympathetic denervation in the management of high-risk patients affected by the long QT syndrome. Circulation 2004 ; 109 : 1826-33.
20. Link MS, Hill SL, Cliff DL, et al. Comparison of frequency of complications of implantable cardioverter-defibrillators in children versus adults. Am J Cardiol 1999 ; 83 : 263-6.