Bibliografia

            

  • Ackerman MJ, Khositseth A, Tester DJ, Hejlik JB, Shen WK, Porter CB (2002) Epinephrine-induced QT interval prolongation: a gene-specific paradoxical response in congenital long QT syndrome. Mayo Clin Proc 77:413-21.
  • Ackerman MJ, Siu BL, Sturner WQ, Tester DJ, Valdivia CR, Makielski JC, Towbin JA (2001) Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA 286:2264-9.
  • Ai T, Fujiwara Y, Tsuji K, Otani H, Nakano S, Kubo Y, Horie M (2002) Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia. Circulation 105:2592-4.
  • Andersen ED, Krasilnikoff PA, Overvad H (1971) Intermittent muscular weakness, extrasystoles, and multiple developmental anomalies. A new syndrome? Acta Paediatr Scand 60:559-64.
  • Jervell A and Lange-Nielsen F (1957) Congenital deaf-mutism, functional heart disease with prolongation of the Q-T interval and sudden death. Am Heart J 54:59-68.
  • Keating MT and Sanguinetti MC (2001) Molecular and cellular mechanisms of cardiac arrhythmias. Cell 104:569-80.
  • Marks ML, Trippel DL, Keating MT (1995) Long QT syndrome associated with syndactyly identified in females. Am J Cardiol 76:744-5
  • Mohler PJ, Schott JJ, Gramolini AO, Dilly KW, Guatimosim S, duBell WH, Song LS, Haurogne K, Kyndt F, Ali ME, Rogers TB, Lederer WJ, Escande D, Le Marec H, Bennett V (2003) Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature 421:634-9.
  • Moss AJ, Schwartz PJ, Crampton RS, Locati E, Carleen E (1985) The long QT syndrome: a prospective international study. Circulation 71:17-21.
  • Moss AJ, Zareba W, Hall WJ, Schwartz PJ, Crampton RS, Benhorin J, Vincent GM, Locati EH, Priori SG, Napolitano C, Medina A, Zhang L, Robinson JL, Timothy K, Towbin JA, Andrews ML (2000) Effectiveness and limitations of beta-blocker therapy in congenital long-QT syndrome. Circulation 101:616-23.
  • Napolitano C, Schwartz PJ, Brown AM, Ronchetti E, Bianchi L, Pinnavaia A, Acquaro G, Priori SG (2000) Evidence for a cardiac ion channel mutation underlying drug-induced QT prolongation and life-threatening arrhythmias. J Cardiovasc Electrophysiol 11:691-6.
  • Neyroud N, Richard P, Vignier N, Donger C, Denjoy I, Demay L, Shkolnikova M, Pesce R, Chevalier P, Hainque B, Coumel P, Schwartz K, Guicheney P (1999) Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome. Circ Res 84:290-7.
  • Piippo K, Swan H, Pasternack M, Chapman H, Paavonen K, Viitasalo M, Toivonen L, Kontula K (2001) A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics. J Am Coll Cardiol 37:562-8.
  • Plaster NM, Tawil R, Tristani-Firouzi M, Canun S, Bendahhou S, Tsunoda A, Donaldson MR, Iannaccone ST, Brunt E, Barohn R, Clark J, Deymeer F, George AL Jr, Fish FA, Hahn A, Nitu A, Ozdemir C, Serdaroglu P, Subramony SH, Wolfe G, Fu YH, Ptacek LJ (2001) Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 105:511-9.
  • Romano C, Gemme G, Pongiglione R (1963) [rare cardiac arrythmias of the pediatric age. ii. syncopal attacks due to paroxysmal ventricular fibrillation. (presentation of 1st case in italian pediatric literature)] Clin Pediatr (Bologna) 45:656-83.
  • Sanguinetti MC, Jiang C, Curran ME, Keating MT (1995) A mechanistic link between an inherited and an acquired cardiac arrhythmia: HERG encodes the IKr potassium channel. Cell 81:299-307.
  • Schott JJ, Charpentier F, Peltier S, Foley P, Drouin E, Bouhour JB, Donnelly P, Vergnaud G, Bachner L, Moisan JP, et al (1995) Mapping of a gene for long QT syndrome to chromosome 4q25-27. Am J Hum Genet 57:1114-22.
  • Schwartz PJ, Priori SG, Bloise R, Napolitano C, Ronchetti E, Piccinini A, Goj C, Breithardt G, Schulze-Bahr E, Wedekind H, Nastoli J (2001) Molecular diagnosis in a child with sudden infant death syndrome. Lancet 358:1342-3.
  • Schwartz PJ, Priori SG, Spazzolini C, Moss AJ, Vincent GM, Napolitano C, Denjoy I, Guicheney P, Breithardt G, Keating MT, Towbin JA, Beggs AH, Brink P, Wilde AA, Toivonen L, Zareba W, Robinson JL, Timothy KW, Corfield V, Wattanasirichaigoon D, Corbett C, Haverkamp W, Schulze-Bahr E, Lehmann MH, Schwartz K, Coumel P, Bloise R (2001) Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation 103:89-95.
  • Splawski I, Shen J, Timothy KW, Lehmann MH, Priori S, Robinson JL, Moss AJ, Schwartz PJ, Towbin JA, Vincent GM, Keating MT (2000) Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation 102:1178-85.
  • Splawski I, Shen J, Timothy KW, Vincent GM, Lehmann MH, Keating MT (1998) Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1. Genomics 51:86-97.
  • Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, Napolitano C, Schwartz PJ, Joseph RM, Condouris K, Tager-Flusberg H, Priori SG, Sanguinetti MC, Keating MT (2004) Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 119:19-31.
  • Swan H, Toivonen L, Viitasalo M (1998) Rate adaptation of QT intervals during and after exercise in children with congenital long QT syndrome. Eur Heart J 19:508-13.
  • Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, Bendahhou S, Kwiecinski H, Fidzianska A, Plaster N, Fu YH, Ptacek LJ, Tawil R (2002) Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest 110:381-8.
  • Viitasalo M, Oikarinen L, Vaananen H, Swan H, Piippo K, Kontula K, Barron HV, Toivonen L, Scheinman MM (2002) Differentiation between LQT1 and LQT2 patients and unaffected subjects using 24-hour electrocardiographic recordings. Am J Cardiol 89:679-85.
  • Viitasalo M, Rovamo L, Toivonen L, Pesonen E, Heikkila J (1996) Dynamics of the QT interval during and after exercise in healthy children. Eur Heart J 17:1723-8.
  • Vincent GM (1986) The heart rate of Romano-Ward syndrome patients. Am Heart J 112:61-4.
  • Vincent GM (2000) Long QT syndrome. Cardiol Clin 18:309-25.
  • Vincent GM, Jaiswal D, Timothy KW (1991) Effects of exercise on heart rate, QT, QTc and QT/QS2 in the Romano- Ward inherited long QT syndrome. Am J Cardiol 68:498-503.
  • Vincent GM, Timothy KW, Leppert M, Keating M (1992) The spectrum of symptoms and QT intervals in carriers of the gene for the long-QT syndrome. N Engl J Med 327:846-52.
  • Viskin S (2000) Cardiac pacing in the long QT syndrome: review of available data and practical recommendations. J Cardiovasc Electrophysiol 11:593-600.
  • Wang Q, Li Z, Shen J, Keating MT (1996) Genomic organization of the human SCN5A gene encoding the cardiac sodium channel. Genomics 34:9-16.
  • WARD OC (1964) A NEW FAMILIAL CARDIAC SYNDROME IN CHILDREN. J Ir Med Assoc 54:103-6.
  • Wilde AA (2002) Is there a role for implantable cardioverter defibrillators in long QT syndrome? J Cardiovasc Electrophysiol 13:S110-13.
  • Woosley RL (2001) Drugs that prolong the QT interval and/or induce torsades de pointes. Online database (www.qtdrugs.org)
  • Zareba W, Moss AJ, Schwartz PJ, Vincent GM, Robinson JL, Priori SG, Benhorin J, Locati EH, Towbin JA, Keating MT, Lehmann MH, Hall WJ (1998) Influence of genotype on the clinical course of the long-QT syndrome. International Long-QT Syndrome Registry Research Group. N Engl J Med 339:960-5.
  • Zhang L, Benson DW, Tristani-Firouzi M, Ptacek LJ, Tawil R, Schwartz PJ, George AL, Horie M, Andelfinger G, Snow GL, Fu YH, Ackerman MJ, Vincent GM (2005) Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. Circulation 111:2720-6.
  • Zhang L, Timothy KW, Vincent GM, Lehmann MH, Fox J, Giuli LC, Shen J, Splawski I, Priori SG, Compton SJ, Yanowitz F, Benhorin J, Moss AJ, Schwartz PJ, Robinson JL, Wang Q, Zareba W, Keating MT, Towbin JA, Napolitano C, Medina A (2000) Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypes. Circulation 102:2849-55.
  • Zhang L, Vincent GM, Baralle M, Baralle FE, Anson BD, Benson DW, Whiting B, Timothy KW, Carlquist J, January CT, Keating MT, Splawski I (2004) An intronic mutation causes long QT syndrome. J Am Coll Cardiol 44:1283-91.

 

 

 

                                  

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Questa pagina è stata aggiornata il 03/04/07.