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| The [[voltage-gated ion channel]] [[mutation]] associated with [[CPVT]] intermittently causes the [[heart]] to develop [[polymorphic ventricular tachycardia]] in response to the natural release of [[catecholamines]]. [[Catecholaminergic polymorphic VT]] may have both [[autosomal dominant]] and [[autosomal recessive]] pattern of [[inheritance]]. The following [[genes]] are associated with [[CPVT]]:
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| *'''[[ryanodine receptor 2|RyR2]]''': | | * Hyperlinking in epidemiology |
| **[[Mutations]] in [[ryanodine receptor 2|cardiac ryanodine receptor]] gene [[ryanodine receptor 2|RyR2]] accounts for CPVT 1, and majority of the cases (approximately 65%).<ref name="PrioriNapolitano2001">{{cite journal|last1=Priori|first1=Silvia G.|last2=Napolitano|first2=Carlo|last3=Tiso|first3=Natascia|last4=Memmi|first4=Mirella|last5=Vignati|first5=Gabriele|last6=Bloise|first6=Raffaella|last7=Sorrentino|first7=Vincenzo|last8=Danieli|first8=Gian Antonio|title= | | * Typos in physical examination |
| Mutations in the Cardiac Ryanodine Receptor Gene (
| | * Hyperlinking from lab findings to mri |
| hRyR2
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| ) Underlie Catecholaminergic Polymorphic Ventricular Tachycardia
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| |journal=Circulation|volume=103|issue=2|year=2001|pages=196–200|issn=0009-7322|doi=10.1161/01.CIR.103.2.196}}</ref><ref name="AckermanPriori2011">{{cite journal|last1=Ackerman|first1=M. J.|last2=Priori|first2=S. G.|last3=Willems|first3=S.|last4=Berul|first4=C.|last5=Brugada|first5=R.|last6=Calkins|first6=H.|last7=Camm|first7=A. J.|last8=Ellinor|first8=P. T.|last9=Gollob|first9=M.|last10=Hamilton|first10=R.|last11=Hershberger|first11=R. E.|last12=Judge|first12=D. P.|last13=Le Marec|first13=H.|last14=McKenna|first14=W. J.|last15=Schulze-Bahr|first15=E.|last16=Semsarian|first16=C.|last17=Towbin|first17=J. A.|last18=Watkins|first18=H.|last19=Wilde|first19=A.|last20=Wolpert|first20=C.|last21=Zipes|first21=D. P.|title=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)|journal=Europace|volume=13|issue=8|year=2011|pages=1077–1109|issn=1099-5129|doi=10.1093/europace/eur245}}</ref>
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| **Genetic linkage studies revealed the disease-causing [[locus]] with an [[autosomal dominant]] inheritance pattern on [[chromosome]] [[1q42–q43]].<ref name="SwanPiippo1999">{{cite journal|last1=Swan|first1=Heikki|last2=Piippo|first2=Kirsi|last3=Viitasalo|first3=Matti|last4=Heikkilä|first4=Päivi|last5=Paavonen|first5=Timo|last6=Kainulainen|first6=Katariina|last7=Kere|first7=Juha|last8=Keto|first8=Pekka|last9=Kontula|first9=Kimmo|last10=Toivonen|first10=Lauri|title=Arrhythmic disorder mapped to chromosome 1q42–q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts|journal=Journal of the American College of Cardiology|volume=34|issue=7|year=1999|pages=2035–2042|issn=07351097|doi=10.1016/S0735-1097(99)00461-1}}</ref> | |
| **[[ryanodine receptor 2|RyR2]] is involved in intracellular [[calcium]] [[homeostasis]] and in the [[excitation-contraction coupling]] of the [[heart]]. | |
| **Mutations in [[ryanodine receptor 2|RYR2]] cause uncontrolled [[calcium]] leakage from the [[sarcoplasmic reticulum]] during electrical [[diastole]], with a subsequent increase in the [[cytosolic]] [[calcium]] concentration.<ref name="JiangXiao2004">{{cite journal|last1=Jiang|first1=D.|last2=Xiao|first2=B.|last3=Yang|first3=D.|last4=Wang|first4=R.|last5=Choi|first5=P.|last6=Zhang|first6=L.|last7=Cheng|first7=H.|last8=Chen|first8=S. R. W.|title=RyR2 mutations linked to ventricular tachycardia and sudden death reduce the threshold for store-overload-induced Ca2+ release (SOICR)|journal=Proceedings of the National Academy of Sciences|volume=101|issue=35|year=2004|pages=13062–13067|issn=0027-8424|doi=10.1073/pnas.0402388101}}</ref><ref name="PrioriNapolitano2001">{{cite journal|last1=Priori|first1=Silvia G.|last2=Napolitano|first2=Carlo|last3=Tiso|first3=Natascia|last4=Memmi|first4=Mirella|last5=Vignati|first5=Gabriele|last6=Bloise|first6=Raffaella|last7=Sorrentino|first7=Vincenzo|last8=Danieli|first8=Gian Antonio|title= | |
| Mutations in the Cardiac Ryanodine Receptor Gene (
| |
| hRyR2
| |
| ) Underlie Catecholaminergic Polymorphic Ventricular Tachycardia
| |
| |journal=Circulation|volume=103|issue=2|year=2001|pages=196–200|issn=0009-7322|doi=10.1161/01.CIR.103.2.196}}</ref>
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| **The increased cytosolic [[calcium]] concentration activates the [[sodium-calcium exchanger]], leading to a transient inward current, and delayed [[after-depolarizations]] that in turn can lead to triggered [[arrhythmias]]. The [[calcium]] leakage is more pronounced in the setting of high [[adrenergic|β-adrenergic]] tone.<ref name="CerroneNoujaim2007">{{cite journal|last1=Cerrone|first1=Marina|last2=Noujaim|first2=Sami F.|last3=Tolkacheva|first3=Elena G.|last4=Talkachou|first4=Arkadzi|last5=O’Connell|first5=Ryan|last6=Berenfeld|first6=Omer|last7=Anumonwo|first7=Justus|last8=Pandit|first8=Sandeep V.|last9=Vikstrom|first9=Karen|last10=Napolitano|first10=Carlo|last11=Priori|first11=Silvia G.|last12=Jalife|first12=José|title=Arrhythmogenic Mechanisms in a Mouse Model of Catecholaminergic Polymorphic Ventricular Tachycardia|journal=Circulation Research|volume=101|issue=10|year=2007|pages=1039–1048|issn=0009-7330|doi=10.1161/CIRCRESAHA.107.148064}}</ref><ref name="Knollmann2006">{{cite journal|last1=Knollmann|first1=B. C.|title=Casq2 deletion causes sarcoplasmic reticulum volume increase, premature Ca2+ release, and catecholaminergic polymorphic ventricular tachycardia|journal=Journal of Clinical Investigation|year=2006|issn=0021-9738|doi=10.1172/JCI29128}}</ref> | |