« Previous
Current Problems in Cardiology
Volume 34, Issue 1
, Pages 9-43
, January 2009
Catecholaminergic Polymorphic Ventricular Tachycardia from Bedside to Bench and Beyond
References
- . Polymorphic ventricular tachyarrhythmias in the absence of organic heart disease: classification, differential diagnosis and implication for therapy. Prog Cardiovasc Dis. 1998;41:17–34
- Short QT Syndrome: a familial cause of sudden death. Circulation. 2003;108:965–970
- Bidirectional tachycardia in a child (A study using His bundle electrography). Br Heart J. 1975;37:339–344
- Catecholamine-induced severe ventricular arrhythmias with Adams Stokes syndrome in children: report of four cases. Br Heart J. 1978;40:28–37
- Catecholaminergic polymorphic ventricular tachycardia in children: a 7-year follow-up of 21 patients. Circulation. 1995;91:1512–1519
- Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts. J Am Coll Cardiol. 1999;34:2035–2042
- Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation. 2001;103:196–200
- Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation. 2001;103:485–490
- Autosomal recessive catecholamine- or exercise-induced polymorphic ventricular tachycardia: clinical features and assignment of the disease gene to chromosome 1p13-21. Circulation. 2001;103:2822–2827
- Clinical phenotype and functional characterization of CASQ2 mutations associated with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2006;114:1012–1019
- Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002;106:69–74
- Catecholaminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients. J Med Genet. 2005;42:863–870
- Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing. Heart Rhythm. 2006;3:800–805
- Catecholaminergic polymorphic ventricular tachycardia: electrocardiographic characteristics and optimal therapeutic strategies to prevent sudden death. Heart. 2003;89:66–70
- Unusual clinical presentation in a family with catecholaminergic polymorphic ventricular tachycardia due to a G14876A ryanodine receptor gene mutation. Am J Cardiol. 2005;95:700–702
- . The Long QT Syndrome. In: Zipes DP, Jalife J editor. Cardiac Electrophysiology (From Cell to Bedside). (ed 3). WB Saunders Company; 2000;p. 597–615
- Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing. Heart Rhythm. 2005;2:1099–1105
- Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes. Circulation. 2004;110:2119–2124
- Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature. 2003;421:634–639
- . Cardiac excitation-contraction coupling. Nature. 2002;415:198–205
- . Excitation-Contraction Coupling and Cardiac Contraction Force. 2nd edition. Dordrecht, Netherlands: Kluwer Academic Publishers; 2001;
- . Regulation of cellular calcium in cardiac myocytes. In: Solaro RJ editors. Handbook of Physiology. New York, NY: Oxford University Press; 2002;p. 335–387Page E FH
- . Calcium ion as a second messenger with special reference to excitation contraction coupling. J Pharmacol Sci. 2006;100:519–524
- . Macromolecular complexes regulating cardiac ryanodine receptor function. J Mol Cell Cardiol. 2004;37:417–429
- . Regulation of Ca2+ and Na+ in normal and failing cardiac myocytes. Ann NY Acad Sci. 2006;1080:165–177
- Calsequestrin determines the functional size and stability of cardiac intracellular calcium stores: mechanism for hereditary arrhythmia. Proc Natl Acad Sci USA. 2003;100:11759–11764
- . Relaxation in rabbit and rat cardiac cells: species-dependent differences in cellular mechanisms. J Physiol. 1994;476:279–293
- . T-type Ca2+ current as a trigger for Ca2+ release from the sarcoplasmic reticulum in guinea-pig ventricular myocytes. J Physiol. 1998;508:439–451
- Regulation and modulation of calcium channels in cardiac, skeletal, and smooth muscle cells. Physiol Rev. 1994;74:365–507
- . Calmodulin and Ca2+/calmodulin kinases in the heart-physiology and pathophysiology. Cardiovasc Res. 2007;73:629–630
- . Na+ current and Ca2+ release from the sarcoplasmic reticulum during action potentials in guinea-pig ventricular myocytes. J Physiol. 1995;489:1–17
- . Na-Ca exchange and the trigger for sarcoplasmic reticulum Ca release: studies in adult rabbit ventricular myocytes. Biophys J. 1998;75:359–371
- . The cardiac Na+-Ca2+ exchanger. In: Solaro RJ editors. Handbook of Physiology, The Cardiovascular System. New York, NY: Oxford University Press; 2002;p. 388–419Page E, FH
- Immunofluorescence localization of the Na-Ca exchanger in heart cells. Am J Physiol. 1992;263:C545–C550
- Mice overexpressing the cardiac sodium-calcium exchanger: defects in excitation-contraction coupling. J Physiol. 2004;554:779–789
- . Shape, size, and distribution of Ca(2+) release units and couplons in skeletal and cardiac muscles. Biophys J. 1999;77:1528–1539
- . Phospholamban and cardiac contractile function. J Mol Cell Cardiol. 2000;32:2131–2139
- A mutation in calsequestrin (CASQ2D307H, impairs sarcoplasmic reticulum Ca2+ handling and causes complex ventricular arrhythmias in mice). Cardiovasc Res. 2007;75:69–78
- . Calreticulin and calsequestrin are differentially distributed in canine heart. J Mol Cell Cardiol. 2000;32:2379–2384
- . Calsequestrin and the calcium release channel of skeletal and cardiac muscle. Prog Biophys Mol Biol. 2004;85:33–69
- Crystal structure of calsequestrin from rabbit skeletal muscle sarcoplasmic reticulum. Nat Struct Biol. 1998;5:476–483
- . Ca2+ binding effects on protein conformation and protein interactions of canine cardiac calsequestrin. SH J Biol Chem. 1988;263:1376–1381
- Regulation of Ca2+ signaling in transgenic mouse cardiac myocytes overexpressing calsequestrin. J Clin Invest. 1998;1:1385–1393
- The role of calsequestrin, triadin, and junctin in conferring cardiac ryanodine receptor responsiveness to luminal calcium. Biophys J. 2004;86:2121–2128
- Complex formation between junctin, triadin, calsequestrin, and the ryanodine receptor (Proteins of the cardiac junctional sarcoplasmic reticulum membrane). J Biol Chem. 1997;272:23389–23397
- Mass spectrometry of cardiac calsequestrin characterizes microheterogeneity unique to heart and indicative of complex. J Biol Chem. 2002;277:37154–37160
- Calreticulin in the heart. Mol Cell Biochem. 2004;263:137–142
- . A role for calreticulin in the adult heart?. J Clin Invest. 2001;107:1223–1225
- . Cardiac and skeletal muscle disorders caused by mutations in the intracellular Ca2+ release channels. J Clin Invest. 2005;115:2033–2038
- . Ryanodine receptor defects in muscle genetic diseases. Biochem Biophys Res Commun. 2004;322:1245–1255
- . Intracellular calcium release and cardiac disease. Annu Rev Physiol. 2005;67:69–98
- Novel regulators of RyR Ca2+ release channels: insight into molecular changes in genetically-linked myopathies. J Muscle Res Cell Motil. 2006;27:351–365
- . Oligomerization of the cardiac ryanodine receptor C-terminal tail. Biochem J. 2003;376:795–799
- . Roles of cardiac ryanodine receptor in heart failure and sudden cardiac death. Int J Cardiol. 2006;112:142–152
- Luminal Ca2+ controls termination and refractory behavior of Ca2+-induced Ca2+ release in cardiac myocytes. Circ Res. 2002;91:414–420
- Dynamic regulation of sarcoplasmic reticulum Ca(2+) content and release by luminal Ca(2+)-sensitive leak in rat ventricular myocytes. Biophys J. 2001;81:785–798
- . Ca2+ stores regulate ryanodine receptor Ca2+ release channels via luminal and cytosolic Ca2+ sites. Biophys J. 2007;92:3541–3555
- Triadin overexpression stimulates excitation-contraction coupling and increases predisposition to cellular arrhythmia in cardiac myocytes. Circ Res. 2005;96:651–658
- . Novel therapeutic approaches for heart failure by normalizing calcium cycling. Nat Rev Drug Discov. 2004;3:565–573
- Overexpression of FK506-binding protein FKBP12.6 in cardiomyocytes reduces ryanodine receptor-mediated Ca(2+) leak from the sarcoplasmic reticulum and increases contractility. Circ Res. 2001;88:188–194
- PKA phosphorylation dissociates FKBP12.6 from the calcium release channel (ryanodine receptor): defective regulation in failing hearts. Cell. 2000;101:365–376
- FKBP12.6 deficiency and defective calcium release channel (ryanodine receptor) function linked to exercise-induced sudden cardiac death. Cell. 2003;113:829–840
- Modulation of cardiac ryanodine receptors by sorcin. J Biol Chem. 1997;272:25333–25338
- Sorcin regulates excitation-contraction coupling in the heart. J Biol Chem. 2003;278:28865–28871
- . Cellular functions of immunophilins. Physiol Rev. 1996;76:631–649
- . Protein kinase A phosphorylation at serine-2808 of the cardiac Ca2+-release channel (ryanodine receptor) does not dissociate 12.6-kDa FK506-binding protein (FKBP12.6). Circ Res. 2004;94:487–495
- Rapid adaptation of cardiac ryanodine receptors: modulation by Mg2+ and phosphorylation. Science. 1995;267:1997–2000
- The Ca 2+ leak paradox and rogue ryanodine receptors: SR Ca 2+ efflux theory and practice. Prog Biophys Mol Biol. 2006;90:172–185
- Transgenic CaMKIIdeltaC overexpression uniquely alters cardiac myocyte Ca2+ handling: reduced SR Ca2+ load and activated SR Ca2+ release. Circ Res. 2003;92:904–911
- Ca2+/calmodulin kinase II-dependent phosphorylation of ryanodine receptors suppresses Ca2+ sparks and Ca2+ waves in cardiac myocytes. Circ Res. 2007;100:399–407
- Local Ca(2+) signaling and EC coupling in heart: Ca(2+) sparks and the regulation of the [Ca(2+)](i) transient. J Mol Cell Cardiol. 2002;34:941–950
- Ca2+ signalling between single L-type Ca2+ channels and ryanodine receptors in heart cells. Nature. 2001;410:592–596
- . Calcium sparks: elementary events underlying excitation-contraction coupling in heart muscle. Science. 1993;262:740–744
- . Sarcoplasmic reticulum Ca(2+) release causes myocyte depolarization (Underlying mechanism and threshold for triggered action potentials). Circ Res. 2000;87:774–780
- . Mechanisms of sudden cardiac death. J Clin Invest. 2005;115:2305–2315
- . Calcium overload, spontaneous calcium release, and ventricular arrhythmias. Heart Rhythm. 2006;3:977–979
- Role of calcium ions in transient inwward currents and aftercontractions induced by striphanthidin in cardiac Purkinje fibres. J Physiol. 1978;281:187–208
- . Intracellular calcium activates a chloride current in canine ventricular myocytes. Am J Physiol. 1994;267:H1984–H1995
- . Ins(1,4,5)P3 receptors and inositol phosphates in the heart-evolutionary artefacts or active signal transducers?. MS Pharmacol Ther. 2005;107:240–251
- Identification and functional reconstitution of the type 2 inositol 1,4,5-trisphosphate receptor from ventricular cardiac myocytes. J Biol Chem. 1997;272:23961–23969
- . Subcellular distribution of the inositol 1,4,5-trisphosphate receptors: functional relevance and molecular determinants. Biol Cell. 2004;96:3–17
- . Effects of cytosolic NADH/NAD(+) levels on sarcoplasmic reticulum Ca(2+) release in permeabilized rat ventricular myocytes. J Physiol. 2004;555:727–741
- . Sarcoplasmic reticulum and nuclear envelope are one highly interconnected Ca2+ store throughout cardiac myocyte. Circ Res. 2006;99:283–291
- The role of inositol 1,4,5-trisphosphate receptors in Ca(2+) signalling and the generation of arrhythmias in rat atrial myocytes. J Physiol. 2002;541:395–409
- No adaptation to digitalization as evaluated by digitalis receptor (Na,K-ATPase) quantification in explanted hearts from donors without heart disease and from digitalized recipients with end-stage heart failure. Am J Cardiol. 1993;71:110–114
- . Myocardial Na,K-ATPase: the molecular basis for the hemodynamic effect of digoxin therapy in congestive heart failure. Cardiovasc Res. 2002;55:710–713
- . Voltage-clamp studies of transient inward current and mechanical oscillations induced by ouabain in ferret papillary muscle. J Physiol. 1982;327:255–271
- . Calcium cycling to congestive heart failure. J Mol Cell Cardiol. 2002;34:951–969
- . Decreased sarcoplasmic reticulum calcium content is responsible for defective excitation-contraction coupling in canine heart failure. Circulation. 2001;103:1577–1584
- . Sarcoplasmic Reticulum Ca2+ and heart failure: roles of diastolic leak and Ca2+ transport. Circ Res. 2003;93:487–490
- . Calcium signaling: a tale for all seasons. Proc Natl Acad Sci USA. 2002;99:1115–1122
- Abnormal Ca2+ release, but normal ryanodine receptors, in canine and human heart failure. Circ Res. 2002;91:1015–1022
- Relation between myocardial function and expression of sarcoplasmic reticulum Ca(2+)-ATPase in failing and nonfailing human myocardium. Circ Res. 1994;75:434–442
- Protein kinase A phosphorylation of the cardiac calcium release channel (ryanodine receptor) in normal and failing hearts (role of phosphatases and response to isoproterenol). J Biol Chem. 2003;278:444–453
- Arrhythmogenesis and contractile dysfunction in heart failure: roles of sodium-calcium exchange (Inward rectifier potassium current, and residual β-adrenergic responsiveness). Circ Res. 2001;88:1159–1167
- . Elevated Sarcoplasmic reticulum Ca2+ leak in intact ventricular myocytes from rabbits in heart failure. Circ Res. 2003;93:592–594
- Abnormal intrastore calcium signaling in chronic heart failure. Proc Natl Acad Sci USA. 2005;102:14104–14109
- Synergistic interactions between Ca2+ entries through L-type Ca2+ channels and Na+-Ca2+ exchanger in normal and failing rat heart. J Physiol. 2005;567:493–504
- Relationship between Na+-Ca2+–exchanger protein levels and diastolic function of failing human myocardium. Circulation. 1999;99:641–648
- beta-adrenergic receptor blockers restore cardiac calcium release channel (ryanodine receptor) structure and function in heart failure. Circulation. 2001;104:2843–2848
- Phosphodiesterase 4D deficiency in the ryanodine-receptor complex promotes heart failure and arrhythmias. Cell. 2005;123:25–35
- Analysis of calstabin2 (FKBP12.6)-ryanodine receptor interactions: rescue of heart failure by calstabin2 in mice. Proc Natl Acad Sci USA. 2006;103:3456–3461
- . Protein kinase A phosphorylation of the ryanodine receptor does not affect calcium sparks in mouse ventricular myocytes. Circ Res. 2002;90:309–316
- Characterization of a novel PKA phosphorulation site, serine-2030 reveal no PKA hyperphosphoruylation of the cardiac ryanodine receptor in canine heart fialure. Circ Res. 2005;96:847–855
- Enhanced store overload-induced Ca2+ release and channel sensitivity to luminal Ca2+ activation are common defects of RyR2 mutations linked to ventricular tachycardia and sudden death. Circ Res. 2005;97:1173–1181
- . Ryanodine receptor mutations associated with stress-induced ventricular tachycardia mediate increased calcium release in stimulated cardiomyocytes. Circ Res. 2003;93:531–540
- . Nonreentrant mechanism underlying spontaneous ventricular arrhythmias in a model of nonischemic heart failure in rabbits. Circulation. 1995;92:1034–1048
- . Transient depolarization and spontaneous voltage fluctuations in isolated single cells from guinea pig ventricles (Calcium-mediated membrane potential fluctuations). Circ Res. 1982;51:142–151
- . Cardiac myocytes Ca2+ and Na+ regulation in normal and failing hearts. J Pharmacolog Sci. 2006;100:315–322
- Stabilization of cardiac ryanodine receptor prevents intracellular calcium leak and arrhythmias. Proc Natl Acad Sci USA. 2006;103:7906–7910
- Sudden death in familial polymorphic ventricular tachycardia associated with calcium release channel (ryanodine receptor) leak. Circulation. 2004;109:3208–3214
- Ryanodine receptors and ventricular arrhythmias: emerging trends in mutations, mechanisms and therapies. J Mol Cell Cardiol. 2007;42:34–50
- Enhanced basal activity of a cardiac Ca2+ release channel (ryanodine receptor) mutant associated with ventricular tachycardia and sudden death. Circ Res. 2002;91:218–225
- RyR2 mutations linked to ventricular tachycardia and sudden death reduce the threshold for store-overload-induced Ca2+ release (SOICR). Proc Natl Acad Sci USA. 2004;101:13062–13067
- Ca2+/Calmodulin-dependent protein kinase II phosphorylation of ryanodine receptor does affect calcium sparks in mouse ventricular myocytes. Circ Res. 2006;99:398–406
- Arrhythmogenic mutation-linked defects in ryanodine receptor autoregulation reveal a novel mechanism of Ca2+ release channel dysfunction. Circ Res. 2006;98:88–97
- Embryonic lethality and abnormal cardiac myocytes in mice lacking ryanodine receptor type 2. EMBO J. 1998;17:3309–3316
- Mice with the R176Q cardiac ryanodine receptor mutation exhibit catecholamine-induced ventricular tachycardia and cardiomyopathy. Proc Natl Acad Sci USA. 2006;103:12179–12184
- Bidirectional ventricular tachycardia and fibrillation elicited in a knock-in mouse model carrier of a mutation in the cardiac ryanodine receptor. Circ Res. 2005;96:e77–e82
- Arrhythmogenesis in catecholaminergic polymorphic ventricular tachycardia: insights from a RyR2 R4496C knock-in mouse model. Circ Res. 2006;99:292–298
- . Calsequestrin mutant D307H exhibits depressed binding to its protein targets and a depressed response to calcium. Cardiovasc Res. 2004;64:227–233
- Abnormal interactions of calsequestrin with the ryanodine receptor calcium release channel complex linked to exercise-induced sudden cardiac death. Circ Res. 2006;98:1151–1158
- Casq2 deletion causes sarcoplasmic reticulum volume increase, premature Ca2+ release, and catecholaminergic polymorphic ventricular tachycardia. J Clin Invest. 2006;116:2510–2520
- Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia. J Clin Invest. 2007;117:1814–1823
- Complete heart block and sudden death in mice overexpressing calreticulin. J Clin Invest. 2001;107:1245–1253
- . The cardiac sarcoplasmic reticulum: filled with Ca2+ and surprises. Circ Res. 2007;100:5–6
- . Increasing ryanodine receptor open probability alone does not produce arrhythmogenic calcium waves: threshold sarcoplasmic reticulum calcium content is required. Circ Res. 2007;100:105–111
- . Cellular mechanisms underlying the development of catecholaminergic ventricular tachycardia. Circulation. 2005;111:2727–2733
- . Mechanisms of abnormal calcium homeostasis in mutations responsible for catecholaminergic polymorphic ventricular tachycardia. Circ Res. 2007;100:e22–e31
- Calcium channel blockers and beta-blockers versus beta-blockers alone for preventing exercise-induced arrhythmias in catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm. 2007;(in press)
- Effects of purified endogenous inhibitor of the Na+/Ca2+ exchanger on ouabain-induced arrhythmias in the atria and ventricle strips of guinea pig. Eur J Pharmacol. 2006;553:196–204
- Purified endogenous inhibitor of the Na/Ca exchanger can enhance the cardiomyocytes contractility and calcium transients. Biochem Biophys Res Commun. 2006;346:1100–1107
- . Role of genetic analyses in cardiology: part I: mendelian diseases: cardiac channelopathies. Circulation. 2006;113:1130–1135
- Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases. Mayo Clin Proc. 2004;79:1380–1384
- . Postmortem long QT syndrome genetic testing for sudden unexplained death in the young. J Am Coll Cardiol. 2007;49:240–246
- A mechanism for sudden infant death syndrome (SIDS): stress-induced leak via ryanodine receptors. Heart Rhythm. 2007;4:733–739
- . Molecular underpinning of “good luck”. Circulation. 2006;114:360–362
PII: S0146-2806(08)00153-9
doi: 10.1016/j.cpcardiol.2008.09.002
© 2009 Mosby, Inc. All rights reserved.
« Previous
Current Problems in Cardiology
Volume 34, Issue 1
, Pages 9-43
, January 2009
