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Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán

2019, Number 4

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Rev Invest Clin 2019; 71 (4)

Basic and Clinical Insights in Catecholaminergic (Familial) Polymorphic Ventricular Tachycardia

Márquez MF, Totomoch-Serra A, Rueda A, Avelino-Cruz JE, Gallegos-Cortez A

Language: English
References: 84
Page: 226-236
PDF size: 295.16 Kb.


ABSTRACT

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a potentially lethal disease, whose characteristic ventricular tachycardias are adrenergic-dependent. Although rare, CPVT should be considered in the differential diagnosis of young individuals with exercise-induced syncope. Mutations in five different genes (RYR2, CASQ2, CALM1, TRDN, and TECRL) are associated with the CPVT phenotype, although RYR2 missense mutations are implicated in up to 60 % of all CPVT cases. Genetic testing has an essential role in the diagnosis, management, pre-symptomatic diagnosis, counseling, and treatment of the proband; furthermore, genetic information can be useful for offspring and relatives. By expert consensus, CPVT gene testing is a Class I recommendation for patients with suspected CPVT. Beta-adrenergic and calcium-channel blockers are the cornerstones of treatment due to the catecholaminergic dependence of the arrhythmias. Unresponsive patients are treated with an implantable cardioverter-defibrillator to reduce the risk of sudden cardiac death. In the present article, a brief review of the genetic and molecular mechanisms of this intriguing disease is provided.


REFERENCES

  1. Lyon RA, Rauh LW. Extrasystoles in children. Am J Dis Child. 1939;57:278.

  2. Berg KJ. Multifocal ventricular extrasystoles with adam-stokes syndrome in siblings. Am Heart J. 1960;60:966-70.

  3. Reid DS, Tynan M, Braidwood L, Fitzgerald GR. Bidirectional tachycardia in a child. A study using his bundle electrography. Br Heart J. 1975;37:339-44.

  4. Coumel P, Fidelle J, Lucet V, Attuel PB. Catecholaminergic-induced severe ventricular arrhythmias with adams-stokes syndrome in children: report of four cases. Br Heart J. 1978; 40:28-37.

  5. Leenhardt A, Lucet V, Denjoy I, Grau F, Ngoc DD, Coumel P, et al. Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients. Circulation. 1995; 91:1512-9.

  6. 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 ventricular tachycardia. Circulation. 2001;103:196-200.

  7. 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.

  8. Landstrom AP, Dobrev D, Wehrens XH. Calcium signaling and cardiac arrhythmias. Circ Res. 2017;120:1969-93.

  9. Roston TM, Van Petegem F, Sanatani S. Catecholaminergic polymorphic ventricular tachycardia: a model for genotype-specific therapy. Curr Opin Cardiol. 2017;32:78-85.

  10. Cano-Hernández KS, Nava-Townsend S, Sánchez-Boiso A, Sánchez- Urbina R, Contreras-Ramos A, Erdmenger-Orellana JR, et al. Prevalence and spectrum of diseases that predispose to sudden cardiac death in Mexican children: a sample obtained from the federico gomez children’s hospital of Mexico. Arch Cardiol Mex. 2018;88:268-76.

  11. Obeyesekere MN, Antzelevitch C, Krahn AD. Management of ventricular arrhythmias in suspected channelopathies. Circ Arrhythm Electrophysiol. 2015;8:221-31.

  12. 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.

  13. Priori SG, Wilde AA, Horie M, Cho Y, Behr ER, Berul C, et al. 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 in june 2013. Heart Rhythm. 2013;10:1932-63.

  14. Hayashi M, Denjoy I, Extramiana F, Maltret A, Buisson NR, Lupoglazoff JM, et al. Incidence and risk factors of arrhythmic events in catecholaminergic polymorphic ventricular tachycardia. Circulation. 2009;119:2426-34.

  15. Roston TM, Vinocur JM, Maginot KR, Mohammed S, Salerno JC, Etheridge SP, et al. Catecholaminergic polymorphic ventricular tachycardia in children: analysis of therapeutic strategies and outcomes from an international multicenter registry. Circ Arrhythm Electrophysiol. 2015;8:633-42.

  16. Richter S, Gebauer R, Hindricks G, Brugada P. A classic electrocardiographic manifestation of catecholaminergic polymorphic ventricular tachycardia. J Cardiovasc Electrophysiol. 2012; 23:560.

  17. Bhuiyan ZA, van den Berg MP, van Tintelen JP, Bink-Boelkens MT, Wiesfeld AC, Alders M, et al. Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features. Circulation. 2007;116:1569-76.

  18. Lahat H, Eldar M, Levy-Nissenbaum E, Bahan T, Friedman E, Khoury A, et al. Autosomal recessive catecholamine-or exerciseinduced polymorphic ventricular tachycardia: clinical features and assignment of the disease gene to chromosome 1p13-21. Circulation. 2001;103:2822-7.

  19. Ringer S. A further contribution regarding the influence of the different constituents of the blood on the contraction of the heart. J Physiol. 1883;4:29-42.

  20. Bers DM. Cardiac excitation-contraction coupling. Nature. 2002; 415:198-205.

  21. Negretti N, O’Neill SC, Eisner DA. The effects of inhibitors of sarcoplasmic reticulum function on the systolic ca2+ transient in rat ventricular myocytes. J Physiol. 1993;468:35-52.

  22. Sobie EA, Guatimosim S, Gómez-Viquez L, Song LS, Hartmann H, Saleet Jafri M, et al. The ca 2+ leak paradox and rogue ryanodine receptors: SR ca 2+ efflux theory and practice. Prog Biophys Mol Biol. 2006;90:172-85.

  23. Zima AV, Bovo E, Bers DM, Blatter LA. Ca²+ spark-dependent and-independent sarcoplasmic reticulum ca²+ leak in normal and failing rabbit ventricular myocytes. J Physiol. 2010;588:4743-57.

  24. Guerrero-Hernández A, Ávila G, Rueda A. Ryanodine receptors as leak channels. Eur J Pharmacol. 2014;739:26-38.

  25. Bers DM. Cardiac sarcoplasmic reticulum calcium leak: basis and roles in cardiac dysfunction. Annu Rev Physiol. 2014;76:107-27.

  26. Otsu K, Willard HF, Khanna VK, Zorzato F, Green NM, MacLennan DH, et al. Molecular cloning of cDNA encoding the ca2+ release channel (ryanodine receptor) of rabbit cardiac muscle sarcoplasmic reticulum. J Biol Chem. 1990;265:13472-83.

  27. Fernandez-Velasco M, Gomez AM, Benitah JP, Neco P. Tachycardia. In: Yamada T, editor. Ryanodine Receptor Channelopathies: the New Kid in the Arrhythmia Neighborhood. Rijeka: InTech; 2012.

  28. Xiao Z, Guo W, Sun B, Hunt DJ, Wei J, Liu Y, et al. Enhanced cytosolic ca2+ activation underlies a common defect of central domain cardiac ryanodine receptor mutations linked to arrhythmias. J Biol Chem. 2016;291:24528-37.

  29. Peng W, Shen H, Wu J, Guo W, Pan X, Wang R, et al. Structural basis for the gating mechanism of the Type 2 ryanodine receptor ryR2. Science. 2016;354:aah5324.

  30. Leenhardt A, Denjoy I, Guicheney P. Catecholaminergic polymorphic ventricular tachycardia. Circ Arrhythm Electrophysiol. 2012;5:1044-52.

  31. Zhao YT, Valdivia CR, Gurrola GB, Hernández JJ, Valdivia HH. Arrhythmogenic mechanisms in ryanodine receptor channelopathies. Sci China Life Sci. 2015;58:54-8.

  32. Eisner DA, Kashimura T, Venetucci LA, Trafford AW. From the ryanodine receptor to cardiac arrhythmias. Circ J. 2009;73: 1561-7.

  33. Kashimura T, Briston SJ, Trafford AW, Napolitano C, Priori SG, Eisner DA, et al. In the ryR2(R4496C) mouse model of CPVT, β-adrenergic stimulation induces ca waves by increasing SR ca content and not by decreasing the threshold for ca waves. Circ Res. 2010;107:1483-9.

  34. Cerrone M, Colombi B, Santoro M, di Barletta MR, Scelsi M, Villani L, et al. 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:e77-82.

  35. Fernández-Velasco M, Rueda A, Rizzi N, Benitah JP, Colombi B, Napolitano C, et al. Increased ca2+ sensitivity of the ryanodine receptor mutant ryR2R4496C underlies catecholaminergic polymorphic ventricular tachycardia. Circ Res. 2009;104:201-9.

  36. Jiang D, Chen W, Wang R, Zhang L, Chen SR. Loss of luminal ca2+ activation in the cardiac ryanodine receptor is associated with ventricular fibrillation and sudden death. Proc Natl Acad Sci U S A. 2007;104:18309-14.

  37. Zhao YT, Valdivia CR, Gurrola GB, Powers PP, Willis BC, Moss RL, et al. Arrhythmogenesis in a catecholaminergic polymorphic ventricular tachycardia mutation that depresses ryanodine receptor function. Proc Natl Acad Sci U S A. 2015;112:E1669-77.

  38. Roston TM, Guo W, Krahn AD, Wang R, Van Petegem F, Sanatani S, et al. A novel RYR2 loss-of-function mutation (I4855M) is associated with left ventricular non-compaction and atypical catecholaminergic polymorphic ventricular tachycardia. J Electrocardiol. 2017;50:227-33.

  39. Fujii Y, Itoh H, Ohno S, Murayama T, Kurebayashi N, Aoki H, et al. A Type 2 ryanodine receptor variant associated with reduced Ca2+ release and short-coupled torsades de pointes ventricular arrhythmia. Heart Rhythm. 2017;14:98-107.

  40. des Georges A, Clarke OB, Zalk R, Yuan Q, Condon KJ, Grassucci RA, et al. Structural basis for gating and activation of ryR1. Cell. 2016;167:145-57e17.

  41. Dulhunty AF, Wium E, Li L, Hanna AD, Mirza S, Talukder S, et al. Proteins within the intracellular calcium store determine cardiac ryR channel activity and cardiac output. Clin Exp Pharmacol Physiol. 2012;39:477-84.

  42. Scriven DR, Asghari P, Moore ED. Microarchitecture of the dyad. Cardiovasc Res. 2013;98:169-76.

  43. Roux-Buisson N, Cacheux M, Fourest-Lieuvin A, Fauconnier J, Brocard J, Denjoy I, et al. Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human. Hum Mol Genet. 2012;21:2759-67.

  44. Nyegaard M, Overgaard MT, Søndergaard MT, Vranas M, Behr ER, Hildebrandt LL, et al. Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death. Am J Hum Genet. 2012;91:703-12.

  45. Gomez-Hurtado N, Boczek NJ, Kryshtal DO, Johnson CN, Sun J, Nitu FR, et al. Novel CPVT-associated calmodulin mutation in CALM3 (CALM3-A103V) activates arrhythmogenic ca waves and sparks. Circ Arrhythm Electrophysiol. 2016;9:e004161.

  46. Rizzi N, Liu N, Napolitano C, Nori A, Turcato F, Colombi B, et al. Unexpected structural and functional consequences of the R33Q homozygous mutation in cardiac calsequestrin: a complex arrhythmogenic cascade in a knock in mouse model. Circ Res. 2008;103:298-306.

  47. Rooryck C, Kyndt F, Bozon D, Roux-Buisson N, Sacher F, Probst V, et al. New family with catecholaminergic polymorphic ventricular tachycardia linked to the triadin gene. J Cardiovasc Electrophysiol. 2015;26:1146-50.

  48. 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.

  49. Knollmann BC, Chopra N, Hlaing T, Akin B, Yang T, Ettensohn K, et al. Casq2 deletion causes sarcoplasmic reticulum volume increase, premature ca2+ release, and catecholaminergic polymorphic ventricular tachycardia. J Clin Invest. 2006;116:2510-20.

  50. Denegri M, Avelino-Cruz JE, Boncompagni S, De Simone SA, Auricchio A, Villani L, et al. Viral gene transfer rescues arrhythmogenic phenotype and ultrastructural abnormalities in adult calsequestrin-null mice with inherited arrhythmias. Circ Res. 2012;110:663-8.

  51. Denegri M, Bongianino R, Lodola F, Boncompagni S, De Giusti VC, Avelino-Cruz JE, et al. Single delivery of an adeno-associat ed viral construct to transfer the CASQ2 gene to knock-in mice affected by catecholaminergic polymorphic ventricular tachycardia is able to cure the disease from birth to advanced age. Circulation. 2014;129:2673-81.

  52. Chopra N, Yang T, Asghari P, Moore ED, Huke S, Akin B, et al. Ablation of triadin causes loss of cardiac ca2+ release units, impaired excitation-contraction coupling, and cardiac arrhythmias. Proc Natl Acad Sci U S A. 2009;106:7636-41.

  53. Chopra N, Knollmann BC. Triadin regulates cardiac muscle couplon structure and microdomain ca(2+) signalling: a path towards ventricular arrhythmias. Cardiovasc Res. 2013;98: 187-91.

  54. Song L, Alcalai R, Arad M, Wolf CM, Toka O, Conner DA, et al. Calsequestrin 2 (CASQ2) mutations increase expression of calreticulin and ryanodine receptors, causing catecholaminergic polymorphic ventricular tachycardia. J Clin Invest. 2007; 117:1814-23.

  55. Devalla HD, Gélinas R, Aburawi EH, Beqqali A, Goyette P, Freund C, et al. TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT. EMBO Mol Med. 2016;8:1390-408.

  56. Bhuiyan ZA, Hamdan MA, Shamsi ET, Postma AV, Mannens MM, Wilde AA, et al. A novel early onset lethal form of catecholaminergic polymorphic ventricular tachycardia maps to chromosome 7p14-p22. J Cardiovasc Electrophysiol. 2007;18:1060-6.

  57. Pastore F, Parisi V, Romano R, Rengo G, Pagano G, Komici K, et al. Genetic test for dilated and hypertrophic cardiomyopathies: useful or less than useful for patients? Transl Med UniSa. 2013;5:14-7.

  58. Spoonamore KG, Johnson NM. Who pays? Coverage challenges for cardiovascular genetic testing in U.S. Patients. Front Cardiovasc Med. 2016;3:14.

  59. Jensen HH, Brohus M, Nyegaard M, Overgaard MT. Human calmodulin mutations. Front Mol Neurosci. 2018;11:396.

  60. Lahat H, Pras E, Olender T, Avidan N, Ben-Asher E, Man O, et al. A missense 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.

  61. Lahrouchi N, Behr ER, Bezzina CR. Next-generation sequencing in post-mortem genetic testing of young sudden cardiac death cases. Front Cardiovasc Med. 2016;3:13.

  62. Pérez-Riera AR, Barbosa-Barros R, de Rezende Barbosa MP, Daminello-Raimundo R, de Lucca AA Jr., de Abreu LC, et al. Catecholaminergic polymorphic ventricular tachycardia, an update. Ann Noninvasive Electrocardiol. 2018;23:e12512.

  63. Perry MD, Vandenberg JI. TECRL: connecting sequence to consequence for a new sudden cardiac death gene. EMBO Mol Med. 2016;8:1364-5.

  64. McNally EM, Puckelwartz MJ. Genetic variation in cardiomyopathy and cardiovascular disorders. Circ J. 2015;79:1409-15.

  65. Shampo MA, Kyle RA. Kary B. Mullis-nobel laureate for procedure to replicate DNA. Mayo Clin Proc. 2002;77:606.

  66. Sanger F, Nicklen S, Coulson AR. DNA sequencing with chainterminating inhibitors. Proc Natl Acad Sci U S A. 1977;74: 5463-7.

  67. Thouvenot P, Ben Yamin B, Fourrière L, Lescure A, Boudier T, Del Nery E, et al. Functional assessment of genetic variants with outcomes adapted to clinical decision-making. PLoS Genet. 2016;12:e1006096.

  68. Totomoch-Serra A, Marquez MF, Cervantes-Barragán DE. Sanger sequencing as a first-line approach for molecular diagnosis of andersen-tawil syndrome. F1000Res. 2017;6:1016.

  69. Ackerman MJ, Priori SG, Willems S, Berul C, Brugada R, Calkins H, et al. HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the heart rhythm society (HRS) and the European heart rhythm association (EHRA). Europace. 2011;13:1077-109.

  70. Alonso-Ortiz N, Gallegos-Cortez A, Antunes-Argüelles E, Villarreal- Molina T, Totomoch-Serra A, Iturralde-Torres P, et al. Catecholaminergic polymorphic ventricular tachycardia due to de novo RyR2 mutation: recreative cycling as a trigger of lethal arrhythmias. Arch Med Sci. 2019;15 [In press].

  71. Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, et al. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest. 2002;110:381-8.

  72. Inoue YY, Aiba T, Kawata H, Sakaguchi T, Mitsuma W, Morita H, et al. Different responses to exercise between andersen-tawil syndrome and catecholaminergic polymorphic ventricular tachycardia. Europace. 2018;20:1675-82.

  73. Márquez MF, Totomoch-Serra A, Burgoa JA, Méndez A, Gómez- Flores JR, Nava S, et al. Abnormal electroencephalogram, epileptic seizures, structural congenital heart disease and aborted sudden cardiac death in andersen-tawil syndrome. Int J Cardiol. 2015;180:206-9.

  74. Tully I, Atherton J, Hunt L, Ingles J, Semsarian C, McGaughran J, et al. Rarity and phenotypic heterogeneity provide challenges in the diagnosis of andersen-tawil syndrome: two cases presenting with ECGs mimicking catecholaminergic polymorphic ventricular tachycardia (CPVT). Int J Cardiol. 2015;201:473-5.

  75. Mohler PJ, Splawski I, Napolitano C, Bottelli G, Sharpe L, Timothy K, et al. A cardiac arrhythmia syndrome caused by loss of ankyrin- B function. Proc Natl Acad Sci U S A. 2004;101:9137-42.

  76. Epstein AE, DiMarco JP, Ellenbogen KA, Estes NA, Freedman RA, Gettes LS, et al. ACC/AHA/HRS 2008 guidelines for device-based therapy of cardiac rhythm abnormalities: a report of the American college of cardiology/American heart association task force on practice guidelines (Writing committee to revise the ACC/ AHA/NASPE 2002 guideline update for implantation of cardiac pacemakers and antiarrhythmia devices): developed in collaboration with the American association for thoracic surgery and society of thoracic surgeons. Circulation. 2008;117:e350-408.

  77. Van der Werf C, Zwinderman AH, Wilde AA. Therapeutic approach for patients with catecholaminergic polymorphic ventricular tachycardia: state of the art and future developments. Europace. 2012;14:175-83.

  78. Watanabe H, van der Werf C, Roses-Noguer F, Adler A, Sumitomo N, Veltmann C, et al. Effects of flecainide on exercise-induced ventricular arrhythmias and recurrences in genotypenegative patients with catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm. 2013;10:542-7.

  79. Watanabe H, Chopra N, Laver D, Hwang HS, Davies SS, Roach DE, et al. Flecainide prevents catecholaminergic polymorphic ventricular tachycardia in mice and humans. Nat Med. 2009; 15:380-3.

  80. Khoury A, Marai I, Suleiman M, Blich M, Lorber A, Gepstein L, et al. Flecainide therapy suppresses exercise-induced ventricular arrhythmias in patients with CASQ2-associated catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm. 2013; 10:1671-5.

  81. Miyake CY, Webster G, Czosek RJ, Kantoch MJ, Dubin AM, Avasarala K, et al. Efficacy of implantable cardioverter defibrillators in young patients with catecholaminergic polymorphic ventricular tachycardia: success depends on substrate. Circ Arrhythm Electrophysiol. 2013;6:579-87.

  82. Wilde AA, Bhuiyan ZA, Crotti L, Facchini M, De Ferrari GM, Paul T, et al. Left cardiac sympathetic denervation for catecholaminergic polymorphic ventricular tachycardia. N Engl J Med. 2008; 358:2024-9.

  83. De Ferrari GM, Dusi V, Spazzolini C, Bos JM, Abrams DJ, Berul CI, et al. Clinical management of catecholaminergic polymorphic ventricular tachycardia: the role of left cardiac sympathetic denervation. Circulation. 2015;131:2185-93.

  84. Liu W, Xie Y, Ma J, Luo X, Nie P, Zuo Z, et al. IBS: an illustrator for the presentation and visualization of biological sequences. Bioinformatics. 2015;31:3359-61.




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