Relevant Publications



Relevant Publications by the Investigators:

  1. Cuneo BF, Strasburger JF, Yu S, Horigome H, Hosono T, Kandori A, Wakai RT. In utero diagnosis of long QT syndrome by magnetocardiography. Circulation. 2013; 128(20):2183- 91.

 

  1. Crotti L, Tester DJ, White WM, Bartos DC, Insolia R, Besana A, Kunic JD, Will ML, Velasco EJ, Bair JJ, Ghidoni A, Cetin I, Van Dyke DL, Wick MJ, Brost B, Delisle BP, Facchinetti F, George AL, Schwartz PJ, Ackerman MJ. Long QT syndrome-associated mutations in intrauterine fetal death. JAMA. 2013;309(14):1473-82.

 

  1. Murphy LL, Moon-Grady AJ, Cuneo BF, Wakai RT, Yu S, Kunic JD, Benson DW, George AL Jr. Developmentally regulated SCN5A splice variant potentiates dysfunction of a novel mutation associated with severe fetal arrhythmia. Heart Rhythm. 2012; 9(4):590-7.

 

  1. Cuneo BF, Etheridge SP, Horigome H, Sallee D, Moon-Grady A, Weng HY, Ackerman MJ, Benson DW. Arrhythmia phenotype during fetal life suggests long-QT syndrome genotype: risk stratification of perinatal long-QT syndrome. Circ Arrhythm Electrophysiol. 2013; 6(5):946-51.

 

  1. Crotti L, Johnson CN, Graf E, De Ferrari GM, Cuneo BF, Ovadia M, Papagiannis J, Feldkamp MD, Rathi SG, Kunic JD, Pedrazzini M, Wieland T, Lichtner P, Beckmann BM, Clark T, Shaffer C, Benson DW, Kääb S, Meitinger T, Strom TM, Chazin WJ, Schwartz PJ, George AL Jr. Calmodulin mutations associated with recurrent cardiac arrest in infants. Circulation. 2013; 127(9):1009-17.

 

  1. Cuneo BF, Ovadia M, Strasburger JF, Zhao H, Petropulos T, Schneider J, Wakai RT. Prenatal diagnosis and in utero treatment of torsades de pointes associated with congenital long QT syndrome. Am J Cardiol. 2003; 91(11):1395-8.

 

  1. Haugaa KH, Amlie JP, Berge KE, Leren TP, Smiseth OA, Edvardsen T. Transmural differences in myocardial contraction in long-QT syndrome: mechanical consequences of ion channel dysfunction. Circulation. 2010; 122(14):1355-63.

 

  1. Mizusawa Y, Horie M, Wilde AA. Genetic and Clinical Advances in Congenital Long QT Syndrome. Circ J. 2014; 78(12):2827-33.  

 

  1. Wilde AA, Ackerman MJ. Beta-Blockers in the Treatment of Congenital Long QT Syndrome: Is One Beta-Blocker Superior to Another? J Am Coll Cardiol. 2014; 64(13):1359-61.

 

  1. Al-Aama JY, Al-Ghamdi S, Bdier AY, Wilde AA, Bhuiyan ZA. De novo mutation in the KCNQ1 gene causal to Jervell and Lange-Nielsen syndrome. Clin Genet. 2014; 86(5):492-5.

 

  1. Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, Blom N, Brugada J, Chiang CE, Huikuri H, Kannankeril P, Krahn A, Leenhardt A, Moss A, Schwartz PJ, Shimizu W, Tomaselli G, Tracy C. HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes: document endorsed by HRS, EHRA, and APHRS in May 2013 and by ACCF, AHA, PACES, and AEPC. Heart Rhythm. 2013 (12):1932-63.

 

  1. Mathias A, Moss AJ, Lopes CM, Barsheshet A, McNitt S, Zareba W, Robinson JL, Locati EH, Ackerman MJ, Benhorin J, Kaufman ES, Platonov PG, Qi M, Shimizu W, Towbin JA, Michael Vincent G, Wilde AA, Zhang L, Goldenberg I. Prognostic implications of mutation-specific QTc standard deviation in congenital long QT syndrome. Heart Rhythm. 2013; 10(5):720-5.

 

  1. Moss AJ, SchwartzPJ, Crampton RS, Tzivoni D, Locati EH, MacCluer J, Hall WJ, Weitkamp L, Vincent GM, Garson A Jr, et al.The long QT syndrome. Prospective longitudinal study of 328 families. 1991; 84:1524-9.

 

  1. Olde Nordkamp LR, Driessen AH, Odero A, Blom NA, Koolbergen DR, SchwartzPJ, Wilde AA. Left cardiac sympathetic denervation in the Netherlands for the treatment of inherited arrhythmia syndromes. Neth Heart J. 2014; 22(4) 10-6.

 

  1. Calvillo L, Spazzolini C, Vullo E, Insolia R, Crotti LSchwartzPJ. Propranolol prevents life-threatening arrhythmias in LQT3 transgenic mice: implications for the clinical management of LQT3 patients. Heart Rhythm. 2014; 11(1):126-32.

 

  1. Towbin JA, Li H, Taggart RT, Lehmann MH, SchwartzPJ, Satler CA, Ayyagari R, Robinson JL, Moss A, Hejtmancik JF Evidence of genetic heterogeneity in Romano-Ward long QT syndrome. Analysis of 23 families. 1994; 90(6):2635-44.

 

  1. Duchatelet S, Crotti L, Peat RA, Denjoy I, Itoh H, Berthet M, Ohno S, Fressart V, Monti MC, Crocamo C, Pedrazzini M, Dagradi F, Vicentini A, Klug D, Brink PA, Goosen A, Swan H, Toivonen L, Lahtinen AM, Kontula K, Shimizu W, Horie M, George AL Jr, Trégouët DA, Guicheney P, Schwartz PJ. Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome. Circ Cardiovasc Genet. 2013; 6(4):354-6.

 

  1. Couderc JP, Xia X, Denjoy I, Extramiana F, Maison-Blanche P, Moss AJ, Zareba W, Lopes CM. Genotype- and Sex-Specific QT-RR Relationship in the Type-1 Long-QT Syndrome. J Am Heart Assoc. 2012 ;1:e000570.

 

  1. Hintsa T, Puttonen S, Toivonen L, Kontula K, Swan H, Keltikangas-Järvinen L. A history of stressful life events, prolonged mental stress and arrhythmic events in inherited long QT syndrome. Heart. 2010 Aug;96(16):1281-6.

 

  1. Marjamaa A, Salomaa V, Newton-Cheh C, Porthan K, Reunanen A, Karanko H, Jula A, Lahermo P, Väänänen H, Toivonen L, Swan H, Viitasalo M, Nieminen MS, Peltonen L, Oikarinen L, Palotie A, Kontula K. High prevalence of four long QT syndrome founder mutations in the Finnish population. Ann Med. 2009; 41(3):234-40. 
  1. Winbo A, Stattin EL, Nordin C, Diamant UB, Persson J, Jensen SM, Rydberg A. Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families. BMC Cardiovasc Disord. 2014; 14:22.

 

  1. Stattin EL, Boström IM, Winbo A, Cederquist K, Jonasson J, Jonsson BA, Diamant UB, Jensen SM, Rydberg A, Norberg A. Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing. BMC Cardiovasc Disord. 2012 25; 12:95.

 

  1. Chockalingam P, Crotti L, Girardengo G, Johnson JN, Harris KM, van der Heijden JF, Hauer RN, Beckmann BM, Spazzolini C, Rordorf R, Rydberg A, Clur SA, Fischer M, van den Heuvel F, Kääb S, Blom NA, Ackerman MJ, Schwartz PJ, Wilde AA. Not all beta-blockers are equal in the management of long QT syndrome types 1 and 2: higher recurrence of events under metoprolol. J Am Coll Cardiol. 2012; 60(20):2092-9.

 

  1. Etheridge SP, Sanatani S, Cohen MI, Albaro CA, Saarel EV, Bradley DJ. Long QT syndrome in children in the era of implantable defibrillators. J Am Coll Cardiol. 2007; 50(14):1335-40.

 

  1. Petko C, Bradley DJ, Tristani-Firouzi M, Cohen MI, Sanatani S, Saarel EV, Albaro CA, Etheridge SP. Congenital long QT syndrome in children identified by family screening. Am J Cardiol. 2008; 101(12):1756-8.

 

  1. Moss AJ. New Insights into the Arrhythmogenic Substrate of the Long QT Syndrome. Circulation. 2014;130 (22):1929-30.

 

  1. Zumhagen S, Stallmeyer B, Friedrich C, Eckardt L, Seebohm G, Schulze-BahrE. Inherited long QT syndrome: clinical manifestation, genetic diagnostics, and therapy. Herzschrittmacherther Elektrophysiol. 2012; 23(3):211-9.

 

  1. Tan HL, Bardai A, Shimizu W, Moss AJ, Schulze-BahrE, Noda T, Wilde AA. Genotype-specific onset of arrhythmias in congenital long-QT syndrome: possible therapy implications. Circulation. 2006; 114:2096-103.

 

  1. Wedekind H, Burde D, Zumhagen S, Debus V, Burkhardtsmaier G, Mönnig G, Breithardt G, Schulze-BahrE. QT interval prolongation and risk for cardiac events in genotyped LQTS-index children. Eur J Pediatr. 2009; 168(9):1107-15.

 

  1. 30. Schwartz PJ, Spazzolini C, Crotti L, Bathen J, Amlie JP, Timothy K, Shkolnikova M, Berul CI, Bitner-Glindzicz M, Toivonen L, Horie M, Schulze-BahrE, Denjoy I. The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome. Circulation. 2006 14; 113(6):783-90.