Long and short QT syndrome

Splawski I, Shen J, Timothy KW, Vincent M, Keating MT et al (2000) Spectrum of mutations in long QT syndrome genes. Circulation 102:1178–1185

Moss AJ, Kass RS (2005) Long QT syndrome: from channels to cardiac arrhythmias. J Clin Invest 115:2018–2024

Kääb S, Schulze-Bahr E (2005) Susceptibility genes and modifiers for cardiac arrhythmias. Cardiovasc Res 67:397–413

Mohler PJ, Splawski I, Napolitano C, Timothy K, Priori S, Keating MT, Bennett V et al (2004) A cardiac arrhythmia syndrome caused by loss of ankyrin-B function. PNAS 24:9137–9142

Plaster NM, Tawil R, Tristani-Firouzi M et al (2001) Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Anderson Syndrome. Cell 105:511–519

Tristani-Firouzi M, Jensen JL, Donaldson MR et al (2002) Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Anderson syndrome). J Clin Invest 110:381–388

Splawski I, Timothy KW, Sharpe LM et al (2004) Cav1.2 calcium channel dysfunction causes multisystem disorder including arrhythmia and autism. Cell 119:19–31

Priori S, Napolitano C, Vicentini A (2002) Inherited arrhythmia syndromes: applying the molecular biology and genetic to the clinical management. J of Interv cardiac Electrophysiol 9:93–101

Moss AJ, Schwartz PJ (2005) 25th anniversary of the international long QT syndrome registry. Circulation 111:1199–1201

Priori S, Schwartz PJ, Napolitano C, Capelletti D et al (2003) Risk stratification in the long QT syndrome. N Engl J Med 348:1866–1874

Zareba W, Moss AJ, Schwartz PJ, Vincent GM, Priori S, Keating MT, Hall WJ et al (1998) Influence of the genotype on the clinical course of the long QT syndrome. N Engl J Med 339:960–965

Vincent GM (2005) Risk assessment in long QT syndrome: the achilles heel of appropriate treatment. Heart Rhythm 2(5):505–506

Zipes DP, Camm AJ, Borggrefe M, Buxton AE, Chaitman B, Fromer M, Gregoratos G, Klein G, Moss AJ, Myerburg RJ, Priori SG, Quinones MA, Roden DM, Silka MJ, Tracy C et al (2006) ACC/AHA/ESC 2006 Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death. Eur Heart J 27:2099-2140

Moss AJ, Zareba W, Kaufman E, Zang L, Wang Z et al (2002) Increased risk of arrhythmic events in long QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel. Circulation 105:794–799

Rossenbacker T, Mubagwa K, Heidbüchel H, Carmeliet P et al (2005) Novel mutation in the per-arnt-sim domain of KCNH2 causes a malignant form of the long QT syndrome. Circulation 111:961–968

Westenkov P, Splawski I, Timothy K, Keating MT, Sanguinetti MC (2004) Compound mutations. A common cause of severe long QT syndrome. Circulation 109:1834–1841

Kimbrough J, Moss AJ, Zareba W, Robinson JL, Zhang L et al (2001) Clinical implications for affected parents and siblings of probands with long QT syndrome. Circulation 104:557–562

Priori S, Napolitano C, Schwartz PJ (1999) Low penetrance in the long QT syndrome. Circulation 99:529–533

Moss AJ, Zareba W, Hall WJ, Andrews ML et al (2000) Effectiveness and limitations of betablocker therapy in congenital long-QT syndrome. Circulation 101:616–623

Schwartz PJ, Priori S, Cerrone M, Zareba W, Epstein AE, Li C, Hu D et al (2004) Left cardiac sympathetic denervation in the management if highrisk patients affected by the long QT syndrome. Circulation 109:1826–1833

Dorostkar PC, Eldar M, Belhassen B, Scheinman MM (1999) Long-term follow-up of patients with long QT syndrome with betablocker and continuous pacing. Circulation 100:2431–2436

Mönnig G, Köbe J, Löher A, Eckardt L, Breithardt G, Schulze-Bahr E, Böcker D et al (2005) Implantable cardioverter-defibrillator therapy in patients with congenital long QT syndrome: a long term follow up. Heart Rhythm 2:497–504

Rajamani S, Anderson CL, Anson BD, January CT (2002) Pharmacological rescue of human K channel long QT2 mutations. Circulation 105:2830–2835

Gepstein L, Feld Y, Yankelson L (2004) Somatic gene and cell therapy strategies for the treatment of cardiac arrhythmias. Am J Physiol 286:H815–822

Phillips KA, Ackerman MJ, Sakowski J, Berul CI (2005) Cost-effectiveness analysis of genetic testing for familial long QT syndrome in symptomatic index cases. Heart Rhythm 2:1294–1300

Gussak I, Brugada P, Brugada J et al (2000) Idiopathic short QT interval: a new clinical syndrome? Cardiology 94:99–102

Brugada R, Hong K, Dumaine R, Brugada P, Antzelevitch C et al (2004) Sudden death associated with short QT syndrome linked to mutations in HERG. Circulation 109:30–35

Bellocq C, van Ginneken ACG, Bezzina CR, Wilde AA et al (2004) Mutation in the KCNQ1 gene leading to the short QT-interval syndrome. Circulation 109:2394–2397

Priori S, Pandit SV, Rivolta I, Berenfeld O, Jalife J et al (2005) A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene. Circ Res 96:800–807

Schulze-Bahr E (2005) Short QT syndrome or Andersen syndrome. Yin and Yang of Kir2.1 channel dysfunction. Circ Res 96:703–704

Cerrone M, Noujaim S, Jalife J (2006) The short QT syndrome as a paradigm to understand the role of potassium channels in ventricular fibrillation. J Intern Med 259:24–38

Schimpf R, Bauersfeld U, Gaita F, Wolpert C (2005) Short QT syndrome: successful prevention of sudden death in an adolescent by implantable cardioverter-defibrillator treatment for primary prophylaxis. Heart Rhythm 2:416–417

Gaita F, Giustetto C, Bianchi F, Wolpert C, Schimpf R, Haissaguerre M, Calo L, Brugada R, Antzelevitch C, Borggrefe M, Wolpert C (2004) Short QT syndrome: pharmacological treatment. J Am Coll Cardiol 43:1494–1499

Gaita F, Giustetto C, Bianchi F, Wolpert C, Schimpf R, Riccardi R, Grossi S, Richardi E, Borggrefe M (2003) Short QT syndrome: a familial cause of sudden death. Circulation 108:965–970

Schimpf R, Wolpert C, Gaita F, Giustetto C, Borggrefe M (2005) Short QT syndrome. Cardiovasc Res 67(3):357–366

Brugada R, Hong K, Cordeiro JM, Dumaine R (2005) Short QT syndrome. CMAJ 173(11):1349–1354