Genes, exercise and sudden death: molecular basis of familial catecholaminergic polymorphic ventricular tachycardia

References

• Wichter T, Schulze-Bahr E, Eckardt L, Paul M, Levkau B, Meyborg M, et al. Molecular mechanisms of inherited ventricular arrhythmias. Herz 2002;27:712–39.
   Google Scholar
• Leenhardt A, Lucet V, Denjoy I, Grau F, Ngoc DD, Coumel P. Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients. Circulation 1995; 91:1512–9.
   Google Scholar
• Swan H, Laitinen PJ. Familial polymorphic ventricular tachy-cardia-intracellular calcium channel disorder. Card Electro-physiol Rev 2002;6:81–7.
   Google Scholar
• Reid DS, Tynan M, Braidwood L, Fitzgerald GR. Bidirec-tional tachycardia in a child. A study using His bundle elec-trography. Br Heart J 1975;37:339–44.
   Google Scholar
• Swan H, Piippo K, Viitasalo M, Heikkila P, Paavonen T, Kainulainen K, et al. Arrhythmic disorder mapped to chromo-some 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts. J Am Coll Cardiol 1999;34:2035–42.
   Google Scholar
• Lahat H, Eldar M, Levy-Nissenbaum E, Bahan T, Friedman E, Khoury A, et al. Autosomal recessive catecholamine- or exercise-induced polymorphic ventricular tachycardia: clinical features and assignment of the disease gene to chromosome 1p13-21. Circulation 2001;103: 2822–7.
   Google Scholar
• Laitinen PJ, Brown KM, Piippo K, Swan H, Devaney JM, Brahmbhatt B, et al. Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation 2001;103:485–90.
   Google Scholar
• Priori SG, Napolitano C, Tiso N, Memmi M, Vignati G, Bloise R, et al. Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ven-tricular tachycardia. Circulation 2001;103:196–200.
   Google Scholar
• Rampazzo A, Nava A, Erne P, Eberhard M, Vian E, Slomp P, et al. A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43. Hum Mol Genet 1995;4:2151–4.
   Google Scholar
• Tiso N, Stephan DA, Nava A, Bagattin A, Devaney JM, Stanchi F, et al. Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmo-genic right ventricular cardiomyopathy type 2 (ARVD2). Hum Mol Genet 2001;10:189–94.
   Google Scholar
• McPherson PS, Campbell KP. Characterization of the major brain form of the ryanodine receptor/Ca2+ release channel. J Biol Chem 1993;268:19785–90.
   Google Scholar
• Otsu K, Willard FIF, Khanna VK, Zorzato F, Green NM, MacLennan DH. Molecular cloning of cDNA encoding the Ca2+ release channel (ryanodine receptor) of rabbit cardiac muscle sarcoplasmic reticulum. J Biol Chem 1990;265:13472–83.
   Google Scholar
• McPherson PS, Campbell KP. The ryanodine receptor/Ca2+ release channel. J Biol Chem 1993;268:13765–8.
   Google Scholar
• McCarthy TV, Quane KA, Lynch PJ. Ryanodine receptor mutations in malignant hyperthermia and central core disease. Hum Mutat 2000;15:410–7.
   Google Scholar
• MacLennan DH. Ca2+ signalling and muscle disease. Eur J Biochem 2000;267:5291–7.
   Google Scholar
• Bauce B, Rampazzo A, Basso C, Bagattin A, Daliento L, Tiso N, et al. Screening for ryanodine receptor type 2 mutations in families with effort-induced polymorphic ventricular arrhyth-mias and sudden death: early diagnosis of asymptomatic carriers. J Am Coll Cardiol 2002;40:341–9.
   Google Scholar
• Priori SG, Napolitano C, Memmi M, Colombi B, Drago F, Gasparini M, et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation 2002;106:69–74.
   Google Scholar
• Laitinen PJ, Swan H, Kontula K. Molecular genetics of exercise-induced polymorphic ventricular tachycardia: identi-fication of three novel cardiac ryanodine receptor mutations and two common calsequestrin 2 amino-acid polymorphisms. Eur J Hum Genet 2003;11: 888–91.
   Google Scholar
• Lahat H, Pras E, Olender T, Avidan N, Ben-Asher E, Man 0, et al. A mis sense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. Am J Hum Genet 2001;69: 1378–84.
   Google Scholar
• Postma AV, Denjoy I, Hoorntje TM, Lupoglazoff JM, Da Costa A, Sebillon P, et al. Absence of calsequestrin 2 causes severe forms of catecholaminergic polymorphic ventricular tachycardia. Circ Res 2002;91:e21–6.
   Google Scholar
• Fisher JD, Krikler D, Hallidie-Smith KA. Familial poly-morphic ventricular arrhythmias: a quarter century of success-ful medical treatment based on serial exercise-pharmacologic testing. J Am Coll Cardiol 1999;34:2015–22.
   Google Scholar
• Jiang D, Xiao B, Zhang L, Chen SR. Enhanced basal activity of a cardiac Ca2+ release channel (ryanodine receptor) mutant associated with ventricular tachycardia and sudden death. Circ Res 2002;91:218–25.
   Google Scholar
• Tiso N, Salamon M, Bagattin A, Darnell GA, Argenton F, Bortolussi M. The binding of the RyR2 calcium channel to its gating protein FKBP12.6 is oppositely affected by ARVD2 and VTSIP mutations. Biochem Biophys Res Commun 2002;299: 594–8.
   Google Scholar
• Marx SO, Reiken S, Hisamatsu Y, Jayaraman T, Burkhoff D, Rosemblit N, et al. PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing hearts. Cell 2000; 101: 365–76.
   Google Scholar
• Wehrens XH, Lehnart SE, Huang F, Vest JA, Reiken SR, Mohler PJ, et al. FKBP12.6 deficiency and defective calcium release channel (ryanodine receptor) function linked to exercise-induced sudden cardiac death. Cell 2003;113: 829–40.
   Google Scholar
• Marks AR. Cardiac intracellular calcium release channels: role in heart failure. Circulation Research 2000;87:8–11.
   Google Scholar
• George CH, Higgs GV, Lai FA. Ryanodine receptor mutations associated with stress-induced ventricular tachycardia mediate increased calcium release in stimulated cardiomyocytes. Circ Res 2003;93:531–40.
   Google Scholar