Catecholaminergic polymorphic ventricular tachycardia pathophysiology: Difference between revisions
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==Genetics== | ==Genetics== | ||
*[[Catecholaminergic polymorphic VT]] may have both [[autosomal dominant]] and [[autosomal recessive]] pattern of [[inheritance]]. The following [[genes]] are associated with [[CPVT]]: | *[[Catecholaminergic polymorphic VT]] may have both [[autosomal dominant]] and [[autosomal recessive]] pattern of [[inheritance]]. The following [[genes]] are associated with [[CPVT]]: | ||
**'''[[ryanodine receptor 2|RYR2]]''': | **'''[[ryanodine receptor 2|RYR2]]''': | ||
***[[Mutations]] in [[ryanodine receptor 2|cardiac ryanodine receptor]] gene [[ryanodine receptor 2|RyR2]] accounts for CPVT 1, and majority of the cases (approximately 50-65%).<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= | ***[[Mutations]] in [[ryanodine receptor 2|cardiac ryanodine receptor]] gene [[ryanodine receptor 2|RyR2]] accounts for CPVT 1, and majority of the cases (approximately 50-65%).<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= | ||
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) Underlie Catecholaminergic Polymorphic Ventricular Tachycardia | ) 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> | |journal=Circulation|volume=103|issue=2|year=2001|pages=196–200|issn=0009-7322|doi=10.1161/01.CIR.103.2.196}}</ref> | ||
**'''[[Calsequestrin|CASQ2]]''': | **'''[[Calsequestrin|CASQ2]]''': | ||
***[[Mutations]] in [[Calsequestrin|cardiac calsequestrin]] gene [[Calsequestrin|CASQ2]] accounts for CPVT 2, for approximately 2–5% of the CPVT cases.<ref name="LahatPras2001">{{cite journal|last1=Lahat|first1=Hadas|last2=Pras|first2=Elon|last3=Olender|first3=Tsviya|last4=Avidan|first4=Nili|last5=Ben-Asher|first5=Edna|last6=Man|first6=Orna|last7=Levy-Nissenbaum|first7=Etgar|last8=Khoury|first8=Asad|last9=Lorber|first9=Avraham|last10=Goldman|first10=Boleslaw|last11=Lancet|first11=Doron|last12=Eldar|first12=Michael|title=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|journal=The American Journal of Human Genetics|volume=69|issue=6|year=2001|pages=1378–1384|issn=00029297|doi=10.1086/324565}}</ref> | ***[[Mutations]] in [[Calsequestrin|cardiac calsequestrin]] gene [[Calsequestrin|CASQ2]] accounts for CPVT 2, for approximately 2–5% of the CPVT cases.<ref name="LahatPras2001">{{cite journal|last1=Lahat|first1=Hadas|last2=Pras|first2=Elon|last3=Olender|first3=Tsviya|last4=Avidan|first4=Nili|last5=Ben-Asher|first5=Edna|last6=Man|first6=Orna|last7=Levy-Nissenbaum|first7=Etgar|last8=Khoury|first8=Asad|last9=Lorber|first9=Avraham|last10=Goldman|first10=Boleslaw|last11=Lancet|first11=Doron|last12=Eldar|first12=Michael|title=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|journal=The American Journal of Human Genetics|volume=69|issue=6|year=2001|pages=1378–1384|issn=00029297|doi=10.1086/324565}}</ref> | ||
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*Other [[genes]] that have been associated with CPVT are: | *Other [[genes]] that have been associated with CPVT are: | ||
**'''Unknown''': | **'''Unknown''': | ||
***[[CPVT]] 3 has been linked to [[chromosome]] 7p14–p22 with an [[autosomal recessive]] pattern of [[inheritance]].<ref name="BhuiyanHamdan2007">{{cite journal|last1=Bhuiyan|first1=Zahurul A.|last2=Hamdan|first2=Mohamed A.|last3=Shamsi|first3=Eman T.A.|last4=Postma|first4=Alex V.|last5=Mannens|first5=Marcel M.A.M.|last6=Wilde|first6=Arthur A. M.|last7=Al-Gazali|first7=Lihadh|title=A Novel Early Onset Lethal Form of Catecholaminergic Polymorphic Ventricular Tachycardia Maps to Chromosome 7p14-p22|journal=Journal of Cardiovascular Electrophysiology|volume=18|issue=10|year=2007|pages=1060–1066|issn=1045-3873|doi=10.1111/j.1540-8167.2007.00913.x}}</ref> | ***[[CPVT]] 3 has been linked to [[chromosome]] 7p14–p22 with an [[autosomal recessive]] pattern of [[inheritance]].<ref name="BhuiyanHamdan2007">{{cite journal|last1=Bhuiyan|first1=Zahurul A.|last2=Hamdan|first2=Mohamed A.|last3=Shamsi|first3=Eman T.A.|last4=Postma|first4=Alex V.|last5=Mannens|first5=Marcel M.A.M.|last6=Wilde|first6=Arthur A. M.|last7=Al-Gazali|first7=Lihadh|title=A Novel Early Onset Lethal Form of Catecholaminergic Polymorphic Ventricular Tachycardia Maps to Chromosome 7p14-p22|journal=Journal of Cardiovascular Electrophysiology|volume=18|issue=10|year=2007|pages=1060–1066|issn=1045-3873|doi=10.1111/j.1540-8167.2007.00913.x}}</ref> | ||
***This novel [[phenotype]] is highly malignant form of [[CPVT]], characterized by exercise-induced [[ventricular arrhythmia]] and a minor exercise-induced [[QT-prolongation]]. | ***This novel [[phenotype]] is highly malignant form of [[CPVT]], characterized by exercise-induced [[ventricular arrhythmia]] and a minor exercise-induced [[QT-prolongation]]. | ||
**'''[[Calmodulin 1|CALM1]]''' | **'''[[Calmodulin 1|CALM1]]''' | ||
***[[Mutations]] in [[Calmodulin 1]] gene [[Calmodulin 1|CALM1]] accounts for [[CPVT]] 4, for approximately <1% of the [[CPVT]] cases. | ***[[Mutations]] in [[Calmodulin 1]] gene [[Calmodulin 1|CALM1]] accounts for [[CPVT]] 4, for approximately <1% of the [[CPVT]] cases. | ||
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***The [[chromosome]] involved is located on 14q32 with an [[autosomal dominant]] pattern of [[inheritance]]. | ***The [[chromosome]] involved is located on 14q32 with an [[autosomal dominant]] pattern of [[inheritance]]. | ||
***[[Calmodulin 1|Calmodulin]] is a [[calcium]]-binding protein that stabilizes [[Ryanodine receptor|RYR2]] and controls its opening during [[diastole]].<ref name="NyegaardOvergaard2012">{{cite journal|last1=Nyegaard|first1=Mette|last2=Overgaard|first2=Michael T.|last3=Søndergaard|first3=Mads T.|last4=Vranas|first4=Marta|last5=Behr|first5=Elijah R.|last6=Hildebrandt|first6=Lasse L.|last7=Lund|first7=Jacob|last8=Hedley|first8=Paula L.|last9=Camm|first9=A. John|last10=Wettrell|first10=Göran|last11=Fosdal|first11=Inger|last12=Christiansen|first12=Michael|last13=Børglum|first13=Anders D.|title=Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death|journal=The American Journal of Human Genetics|volume=91|issue=4|year=2012|pages=703–712|issn=00029297|doi=10.1016/j.ajhg.2012.08.015}}</ref> | ***[[Calmodulin 1|Calmodulin]] is a [[calcium]]-binding protein that stabilizes [[Ryanodine receptor|RYR2]] and controls its opening during [[diastole]].<ref name="NyegaardOvergaard2012">{{cite journal|last1=Nyegaard|first1=Mette|last2=Overgaard|first2=Michael T.|last3=Søndergaard|first3=Mads T.|last4=Vranas|first4=Marta|last5=Behr|first5=Elijah R.|last6=Hildebrandt|first6=Lasse L.|last7=Lund|first7=Jacob|last8=Hedley|first8=Paula L.|last9=Camm|first9=A. John|last10=Wettrell|first10=Göran|last11=Fosdal|first11=Inger|last12=Christiansen|first12=Michael|last13=Børglum|first13=Anders D.|title=Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death|journal=The American Journal of Human Genetics|volume=91|issue=4|year=2012|pages=703–712|issn=00029297|doi=10.1016/j.ajhg.2012.08.015}}</ref> | ||
**'''[[TRDN]]''': | **'''[[TRDN]]''': | ||
***[[Mutations]] in [[Triadin]] gene [[TRDN]] accounts for [[CPVT]] 5, for approximately 1-2% of the CPVT cases.<ref name="Roux-BuissonCacheux2012">{{cite journal|last1=Roux-Buisson|first1=Nathalie|last2=Cacheux|first2=Marine|last3=Fourest-Lieuvin|first3=Anne|last4=Fauconnier|first4=Jeremy|last5=Brocard|first5=Julie|last6=Denjoy|first6=Isabelle|last7=Durand|first7=Philippe|last8=Guicheney|first8=Pascale|last9=Kyndt|first9=Florence|last10=Leenhardt|first10=Antoine|last11=Le Marec|first11=Hervé|last12=Lucet|first12=Vincent|last13=Mabo|first13=Philippe|last14=Probst|first14=Vincent|last15=Monnier|first15=Nicole|last16=Ray|first16=Pierre F.|last17=Santoni|first17=Elodie|last18=Trémeaux|first18=Pauline|last19=Lacampagne|first19=Alain|last20=Fauré|first20=Julien|last21=Lunardi|first21=Joël|last22=Marty|first22=Isabelle|title=Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human|journal=Human Molecular Genetics|volume=21|issue=12|year=2012|pages=2759–2767|issn=0964-6906|doi=10.1093/hmg/dds104}}</ref> | ***[[Mutations]] in [[Triadin]] gene [[TRDN]] accounts for [[CPVT]] 5, for approximately 1-2% of the CPVT cases.<ref name="Roux-BuissonCacheux2012">{{cite journal|last1=Roux-Buisson|first1=Nathalie|last2=Cacheux|first2=Marine|last3=Fourest-Lieuvin|first3=Anne|last4=Fauconnier|first4=Jeremy|last5=Brocard|first5=Julie|last6=Denjoy|first6=Isabelle|last7=Durand|first7=Philippe|last8=Guicheney|first8=Pascale|last9=Kyndt|first9=Florence|last10=Leenhardt|first10=Antoine|last11=Le Marec|first11=Hervé|last12=Lucet|first12=Vincent|last13=Mabo|first13=Philippe|last14=Probst|first14=Vincent|last15=Monnier|first15=Nicole|last16=Ray|first16=Pierre F.|last17=Santoni|first17=Elodie|last18=Trémeaux|first18=Pauline|last19=Lacampagne|first19=Alain|last20=Fauré|first20=Julien|last21=Lunardi|first21=Joël|last22=Marty|first22=Isabelle|title=Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human|journal=Human Molecular Genetics|volume=21|issue=12|year=2012|pages=2759–2767|issn=0964-6906|doi=10.1093/hmg/dds104}}</ref> |
Revision as of 06:29, 23 July 2020
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
The exact pathogenesis of [disease name] is not fully understood.
OR
It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
OR
[Pathogen name] is usually transmitted via the [transmission route] route to the human host.
OR
Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
OR
[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
OR
The progression to [disease name] usually involves the [molecular pathway].
OR
The pathophysiology of [disease/malignancy] depends on the histological subtype.
Pathophysiology
Physiology
The normal physiology of [name of process] can be understood as follows:
Pathogenesis
- CPVT is primarily due to the voltage-gated ion channel mutation which intermittently causes the heart to develop polymorphic ventricular tachycardia in response to the natural release of catecholamines.
- The genes encoding cardiac ryanodine-calcium release channel RyR2 or, infrequently, cardiac calsequestrin CASQ2 are involved in the release of calcium from the sarcoplasmic reticulum.
- Mutations in the genes encoding cardiac ryanodine-calcium release channel RyR2 or cardiac calsequestrin CASQ2 or other related genes, therein result in inappropriate calcium leak from the sarcoplasmic reticulum during electrical diastole, with a subsequent increase in the cytosolic calcium concentration.[1][2][3]
- The cytosolic calcium overload activates the sodium-calcium exchanger, leading to a transient inward current, and delayed after-depolarizations that in turn can lead to triggered arrhythmias, particularly under conditions of high β-adrenergic tone.[4][5]
Genetics
- Catecholaminergic polymorphic VT may have both autosomal dominant and autosomal recessive pattern of inheritance. The following genes are associated with CPVT:
- RYR2:
- Mutations in cardiac ryanodine receptor gene RyR2 accounts for CPVT 1, and majority of the cases (approximately 50-65%).[6][7]
- Genetic linkage studies revealed the disease-causing locus with an autosomal dominant inheritance pattern on chromosome 1q42–q43.[8]
- RyR2 is involved in intracellular calcium homeostasis and in the excitation-contraction coupling of the heart.
- Mutations in RYR2 cause uncontrolled calcium leakage from the sarcoplasmic reticulum during electrical diastole, with a subsequent increase in the cytosolic calcium concentration.[1][6]
- CASQ2:
- Mutations in cardiac calsequestrin gene CASQ2 accounts for CPVT 2, for approximately 2–5% of the CPVT cases.[9]
- The chromosome involved is located on 1p13.3-p11 with an autosomal recessive pattern of inheritance.
- CASQ2 is a Ca2+ buffering protein within the sarcoplasmic reticulum that plays a role in the control of calcium release from the sarcoplasmic reticulum to the cytosol.
- RYR2:
- Other genes that have been associated with CPVT are:
- Unknown:
- CPVT 3 has been linked to chromosome 7p14–p22 with an autosomal recessive pattern of inheritance.[10]
- This novel phenotype is highly malignant form of CPVT, characterized by exercise-induced ventricular arrhythmia and a minor exercise-induced QT-prolongation.
- CALM1
- Mutations in Calmodulin 1 gene CALM1 accounts for CPVT 4, for approximately <1% of the CPVT cases.
- Mutation in the CALM1 gene was first identified in a Swedish family with a history of exercise-induced ventricular arrhythmias, syncope, and sudden death.[11]
- The chromosome involved is located on 14q32 with an autosomal dominant pattern of inheritance.
- Calmodulin is a calcium-binding protein that stabilizes RYR2 and controls its opening during diastole.[11]
- TRDN:
- Mutations in Triadin gene TRDN accounts for CPVT 5, for approximately 1-2% of the CPVT cases.[12]
- Mutations in the gene encoding Triadin (TRDN) were identified in the probands of 2 families in whom mutations for RYR2 and CASQ2 were not identified.[12]
- The chromosome involved is located on 6q22 with an autosomal recessive pattern of inheritance.
- Triadin is a protein within the sarcoplasmic reticulum, physically and functionally related to the ryanodine receptor that plays a role in the control of calcium release from the sarcoplasmic reticulum to the cytosol.
- TRDN mutations impair FKBP12.6–RYR2 interaction, thus destabilizing the RyR2 channel opening,[13] or by a reduction of CASQ2 protein levels.[12], thus affecting calcium release and resulting in a calcium leak during diastole similar to that observed for RyR2 mutants.
- Unknown:
- More recently, two other genes have been reported to cause CPVT-like phenotype (phenocopy):[14][15]
- KCNJ2- encoding for Inward-rectifier potassium ion channel - autosomal dominant - 17q24.3
- ANKB- encoding for ankyrin B, a cytoskeletal protein - autosomal dominant - 4q25
Associated Conditions
Conditions associated with [disease name] include:
- [Condition 1]
- [Condition 2]
- [Condition 3]
Gross Pathology
On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
Microscopic Pathology
On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
References
- ↑ 1.0 1.1 Jiang, D.; Xiao, B.; Yang, D.; Wang, R.; Choi, P.; Zhang, L.; Cheng, H.; Chen, S. R. W. (2004). "RyR2 mutations linked to ventricular tachycardia and sudden death reduce the threshold for store-overload-induced Ca2+ release (SOICR)". Proceedings of the National Academy of Sciences. 101 (35): 13062–13067. doi:10.1073/pnas.0402388101. ISSN 0027-8424.
- ↑ di Barletta, Marina Raffaele; Viatchenko-Karpinski, Serge; Nori, Alessandra; Memmi, Mirella; Terentyev, Dmitry; Turcato, Federica; Valle, Giorgia; Rizzi, Nicoletta; Napolitano, Carlo; Gyorke, Sandor; Volpe, Pompeo; Priori, Silvia G. (2006). "Clinical Phenotype and Functional Characterization of
CASQ2
Mutations Associated With Catecholaminergic Polymorphic Ventricular Tachycardia". Circulation. 114 (10): 1012–1019. doi:10.1161/CIRCULATIONAHA.106.623793. ISSN 0009-7322. line feed character in
|title=
at position 54 (help) - ↑ Lehnart, Stephan E.; Wehrens, Xander H.T.; Laitinen, Päivi J.; Reiken, Steven R.; Deng, Shi-Xiang; Cheng, Zhenzhuang; Landry, Donald W.; Kontula, Kimmo; Swan, Heikki; Marks, Andrew R. (2004). "Sudden Death in Familial Polymorphic Ventricular Tachycardia Associated With Calcium Release Channel (Ryanodine Receptor) Leak". Circulation. 109 (25): 3208–3214. doi:10.1161/01.CIR.0000132472.98675.EC. ISSN 0009-7322.
- ↑ Cerrone, Marina; Noujaim, Sami F.; Tolkacheva, Elena G.; Talkachou, Arkadzi; O’Connell, Ryan; Berenfeld, Omer; Anumonwo, Justus; Pandit, Sandeep V.; Vikstrom, Karen; Napolitano, Carlo; Priori, Silvia G.; Jalife, José (2007). "Arrhythmogenic Mechanisms in a Mouse Model of Catecholaminergic Polymorphic Ventricular Tachycardia". Circulation Research. 101 (10): 1039–1048. doi:10.1161/CIRCRESAHA.107.148064. ISSN 0009-7330.
- ↑ Knollmann, B. C. (2006). "Casq2 deletion causes sarcoplasmic reticulum volume increase, premature Ca2+ release, and catecholaminergic polymorphic ventricular tachycardia". Journal of Clinical Investigation. doi:10.1172/JCI29128. ISSN 0021-9738.
- ↑ 6.0 6.1 Priori, Silvia G.; Napolitano, Carlo; Tiso, Natascia; Memmi, Mirella; Vignati, Gabriele; Bloise, Raffaella; Sorrentino, Vincenzo; Danieli, Gian Antonio (2001). "Mutations in the Cardiac Ryanodine Receptor Gene (
hRyR2
) Underlie Catecholaminergic Polymorphic Ventricular Tachycardia". Circulation. 103 (2): 196–200. doi:10.1161/01.CIR.103.2.196. ISSN 0009-7322. line feed character in
|title=
at position 51 (help) - ↑ Ackerman, M. J.; Priori, S. G.; Willems, S.; Berul, C.; Brugada, R.; Calkins, H.; Camm, A. J.; Ellinor, P. T.; Gollob, M.; Hamilton, R.; Hershberger, R. E.; Judge, D. P.; Le Marec, H.; McKenna, W. J.; Schulze-Bahr, E.; Semsarian, C.; Towbin, J. A.; Watkins, H.; Wilde, A.; Wolpert, C.; Zipes, D. P. (2011). "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. 13 (8): 1077–1109. doi:10.1093/europace/eur245. ISSN 1099-5129.
- ↑ Swan, Heikki; Piippo, Kirsi; Viitasalo, Matti; Heikkilä, Päivi; Paavonen, Timo; Kainulainen, Katariina; Kere, Juha; Keto, Pekka; Kontula, Kimmo; Toivonen, Lauri (1999). "Arrhythmic disorder mapped to chromosome 1q42–q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts". Journal of the American College of Cardiology. 34 (7): 2035–2042. doi:10.1016/S0735-1097(99)00461-1. ISSN 0735-1097.
- ↑ Lahat, Hadas; Pras, Elon; Olender, Tsviya; Avidan, Nili; Ben-Asher, Edna; Man, Orna; Levy-Nissenbaum, Etgar; Khoury, Asad; Lorber, Avraham; Goldman, Boleslaw; Lancet, Doron; Eldar, Michael (2001). "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". The American Journal of Human Genetics. 69 (6): 1378–1384. doi:10.1086/324565. ISSN 0002-9297.
- ↑ Bhuiyan, Zahurul A.; Hamdan, Mohamed A.; Shamsi, Eman T.A.; Postma, Alex V.; Mannens, Marcel M.A.M.; Wilde, Arthur A. M.; Al-Gazali, Lihadh (2007). "A Novel Early Onset Lethal Form of Catecholaminergic Polymorphic Ventricular Tachycardia Maps to Chromosome 7p14-p22". Journal of Cardiovascular Electrophysiology. 18 (10): 1060–1066. doi:10.1111/j.1540-8167.2007.00913.x. ISSN 1045-3873.
- ↑ 11.0 11.1 Nyegaard, Mette; Overgaard, Michael T.; Søndergaard, Mads T.; Vranas, Marta; Behr, Elijah R.; Hildebrandt, Lasse L.; Lund, Jacob; Hedley, Paula L.; Camm, A. John; Wettrell, Göran; Fosdal, Inger; Christiansen, Michael; Børglum, Anders D. (2012). "Mutations in Calmodulin Cause Ventricular Tachycardia and Sudden Cardiac Death". The American Journal of Human Genetics. 91 (4): 703–712. doi:10.1016/j.ajhg.2012.08.015. ISSN 0002-9297.
- ↑ 12.0 12.1 12.2 Roux-Buisson, Nathalie; Cacheux, Marine; Fourest-Lieuvin, Anne; Fauconnier, Jeremy; Brocard, Julie; Denjoy, Isabelle; Durand, Philippe; Guicheney, Pascale; Kyndt, Florence; Leenhardt, Antoine; Le Marec, Hervé; Lucet, Vincent; Mabo, Philippe; Probst, Vincent; Monnier, Nicole; Ray, Pierre F.; Santoni, Elodie; Trémeaux, Pauline; Lacampagne, Alain; Fauré, Julien; Lunardi, Joël; Marty, Isabelle (2012). "Absence of triadin, a protein of the calcium release complex, is responsible for cardiac arrhythmia with sudden death in human". Human Molecular Genetics. 21 (12): 2759–2767. doi:10.1093/hmg/dds104. ISSN 0964-6906.
- ↑ "Catecholaminergic Polymorphic Ventricular Tachycardia - GeneReviews® - NCBI Bookshelf".
- ↑ Tristani-Firouzi, Martin; Jensen, Judy L.; Donaldson, Matthew R.; Sansone, Valeria; Meola, Giovanni; Hahn, Angelika; Bendahhou, Said; Kwiecinski, Hubert; Fidzianska, Anna; Plaster, Nikki; Fu, Ying-Hui; Ptacek, Louis J.; Tawil, Rabi (2002). "Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)". Journal of Clinical Investigation. 110 (3): 381–388. doi:10.1172/JCI15183. ISSN 0021-9738.
- ↑ Mohler, Peter J.; Splawski, Igor; Napolitano, Carlo; Bottelli, Georgia; Sharpe, Leah; Timothy, Katherine; Priori, Silvia G.; Keating, Mark T.; Bennett, Vann (2004). "A cardiac arrhythmia syndrome caused by loss of ankyrin-B function". Proceedings of the National Academy of Sciences. 101 (24): 9137–9142. doi:10.1073/pnas.0402546101. ISSN 0027-8424.