Catecholaminergic polymorphic ventricular tachycardia: Difference between revisions

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===Implantable cardioverter-defibrillator===
===Implantable cardioverter-defibrillator===
[[Implantable cardioverter-defibrillator]]s are used to prevent [[Sudden cardiac death|sudden death]].
*[[ICD]] should be used with pharmacologic therapy.<ref name="RostonJones2018">{{cite journal|last1=Roston|first1=Thomas M.|last2=Jones|first2=Karolina|last3=Hawkins|first3=Nathaniel M.|last4=Bos|first4=J. Martijn|last5=Schwartz|first5=Peter J.|last6=Perry|first6=Frances|last7=Ackerman|first7=Michael J.|last8=Laksman|first8=Zachary W.M.|last9=Kaul|first9=Padma|last10=Lieve|first10=Krystien V.V.|last11=Atallah|first11=Joseph|last12=Krahn|first12=Andrew D.|last13=Sanatani|first13=Shubhayan|title=Implantable cardioverter-defibrillator use in catecholaminergic polymorphic ventricular tachycardia: A systematic review|journal=Heart Rhythm|volume=15|issue=12|year=2018|pages=1791–1799|issn=15475271|doi=10.1016/j.hrthm.2018.06.046}}</ref>
*Indications:<ref name="PrioriBlomström-Lundqvist2015">{{cite journal|last1=Priori|first1=Silvia G.|last2=Blomström-Lundqvist|first2=Carina|last3=Mazzanti|first3=Andrea|last4=Blom|first4=Nico|last5=Borggrefe|first5=Martin|last6=Camm|first6=John|last7=Elliott|first7=Perry Mark|last8=Fitzsimons|first8=Donna|last9=Hatala|first9=Robert|last10=Hindricks|first10=Gerhard|last11=Kirchhof|first11=Paulus|last12=Kjeldsen|first12=Keld|last13=Kuck|first13=Karl-Heinz|last14=Hernandez-Madrid|first14=Antonio|last15=Nikolaou|first15=Nikolaos|last16=Norekvål|first16=Tone M.|last17=Spaulding|first17=Christian|last18=Van Veldhuisen|first18=Dirk J.|title=2015 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death|journal=European Heart Journal|volume=36|issue=41|year=2015|pages=2793–2867|issn=0195-668X|doi=10.1093/eurheartj/ehv316}}</ref>
**Patients who are at high risk of [[cardiac arrest]]
**Patients who have survived a [[sudden cardiac arrest]]
**Patients who have experienced [[syncope]] or sustained [[VT]] despite optimal medical therapy and left [[cardiac]] [[sympathetic]] [[denervation]]. [].
*[[Implantable cardioverter-defibrillator]] may have harmful pro-[[arrhythmia|arrhythmic]] effects in some patients, since painful shocks can increase [[catecholamine]] release and trigger further [[arrhythmias]] and triggering [[VT]] storm, leading to a malignant cycle of shocks that may even culminate in [[death]].  
*To reduce the risk of inappropriate shocks, it is important to program [[ICD]] with long delays before shock delivery and high cut-off rates for heart rate recognition; and always administer [[beta blockers]] concurrently.<ref name="Al-KhatibStevenson2018">{{cite journal|last1=Al-Khatib|first1=Sana M.|last2=Stevenson|first2=William G.|last3=Ackerman|first3=Michael J.|last4=Bryant|first4=William J.|last5=Callans|first5=David J.|last6=Curtis|first6=Anne B.|last7=Deal|first7=Barbara J.|last8=Dickfeld|first8=Timm|last9=Field|first9=Michael E.|last10=Fonarow|first10=Gregg C.|last11=Gillis|first11=Anne M.|last12=Granger|first12=Christopher B.|last13=Hammill|first13=Stephen C.|last14=Hlatky|first14=Mark A.|last15=Joglar|first15=José A.|last16=Kay|first16=G. Neal|last17=Matlock|first17=Daniel D.|last18=Myerburg|first18=Robert J.|last19=Page|first19=Richard L.|title=2017 AHA/ACC/HRS Guideline for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death|journal=Journal of the American College of Cardiology|volume=72|issue=14|year=2018|pages=e91–e220|issn=07351097|doi=10.1016/j.jacc.2017.10.054}}</ref>


===Sympathectomy===
===Sympathectomy===
Line 315: Line 321:
***[[Pneumothorax]]   
***[[Pneumothorax]]   
*In spite of the side-effects and complications, the procedure was safe and satisfactory among the vast majority of patients.
*In spite of the side-effects and complications, the procedure was safe and satisfactory among the vast majority of patients.
===Surgery===


===Prevention===
===Prevention===

Revision as of 08:33, 22 July 2020

Ventricular tachycardia Microchapters

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Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Ventricular Tachycardia from other Disorders

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study of Choice

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

Chest X Ray

Echocardiography

Cardiac MRI

Other Diagnostic Tests

Treatment

Medical Therapy

Electrical Cardioversion

Ablation

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mounika Reddy Vadiyala, M.B.B.S.[2]

Synonyms and keywords: CPVT, bidirectional tachycardia induced by catecholamines, catecholamine-induced polymorphic ventricular tachycardia, familial polymorphic ventricular tachycardia, FPVT, polymorphic ventricular tachycardia.

Overview

Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) is a rare inherited arrhythmogenic disorder characterized by syncopal attacks, ventricular arrhythmias, and even sudden cardiac death, mostly in young patients. It is caused by mutations in calcium handling proteins such as RyR2 and CASQ2 within the sarcoplasmic reticulum, which results in ventricular arrhythmias in the setting of a high adrenergic tone such as during physical exercise or strong emotions. There are no associated structural abnormalities of the heart.

Historical Perspective

Classification

Type OMIM Gene Protein Mode of inheritance Locus
CPVT1 604772 RyR2 Ryanodine receptor 2 Autosomal dominant 1q42.1-q43
CPVT2 611938 CASQ2 Calsequestrin 2 Autosomal recessive 1p13.3-p11
CPVT3 614021 Unknown - Autosomal recessive 7p14–p22
CPVT4 614916 CALM1 Calmodulin 1 Autosomal dominant 14q32.11
CPVT5 615441 TRDN Triadin Autosomal recessive 6q22.31

Pathophysiology

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:

The genes encoding cardiac ryanodine-calcium release channel RyR2 or, infrequently, cardiac calsequestrin CASQ2 are thus involved in the release of calcium from the sarcoplasmic reticulum and mutations therein result in inappropriate calcium leak from the sarcoplasmic reticulum.[5][10][11] 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.[12][13]

Other genes that have been associated with CPVT are:

More recently, two other genes have been reported to cause CPVT-like phenotype (phenocopy):[18][19]

Differentiating Catecholaminergic polymorphic ventricular tachycardia from other Diseases

Catecholaminergic polymorphic ventricular tachycardia must be differentiated from other diseases that cause syncope, ventricular tachycardia, and sudden cardiac death, such as:

Epidemiology and Demographics

  • The prevalence of catecholaminergic polymorphic ventricular tachycardia is estimated to be 1 per 10,000 individuals. Although the true prevalence is unknown.[20]

Age

  • Catecholaminergic polymorphic ventricular tachycardia onset is more commonly observed during childhood and adolescence with the mean age of onset of symptoms between age 7 and 12 years.[4][21][7]
  • CPVT has also been reported in adults with onset as late as the fourth decade.[22]

Gender

  • CPVT affects males and females equally;[23] although males are more likely to present at an earlier age (in childhood or adolescence), while females are more likely to present at an older age (20 years, mean).[4]

Race

  • There is no racial predilection for CPVT.

Risk factors

The possible risk factors in the development of catecholaminergic polymorphic ventricular tachycardia (CPVT) are:

  • Physical activity such as exercise,
  • Stress,
  • Young age,
  • Family history of syncope or sudden death, and
  • Family history of CPVT

Screening

Natural History, Complications, Prognosis

Natural History

Complications

Prognosis

  • Prognosis is generally poor, and the 10-year mortality of patients with CPVT is approximately 40%.[22]
  • Studies show that there is a correlation between the age of the first syncope and the severity of the disease, with a worse prognosis in the case of early occurrence.[3]
  • If left untreated, patients with CPVT have a mortality rate of 30% before age 40.[4][23]

Diagnosis

Diagnostic Criteria

The diagnosis of CPVT is made when at least one of the following four diagnostic criteria are met:[27][28]

  1. CPVT is diagnosed in the presence of a structurally normal heart, normal ECG, and unexplained exercise or catecholamine-induced bidirectional VT, polymorphic ventricular premature beats or VT in individuals <40 years of age.
  2. CPVT is diagnosed in patients (index case or family member) who have a pathogenic mutation.
  3. CPVT is diagnosed in family members of a CPVT index case with a normal heart who manifest exercise-induced premature ventricular contractions or bidirectional/ polymorphic VT.
  4. CPVT can be diagnosed in the presence of a structurally normal heart and coronary arteries, normal ECG, and unexplained exercise or catecholamine-induced bidirectional VT, polymorphic ventricular premature beats or VT in individuals >40 years of age.

Symptoms

Laboratory findings

Electrocardiogram

Exercise Stress Testing


 
 
 
 
 
 
 
 
Exercise stress testing
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Increase in sinus rhythm
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Monomorphic premature ventricular contractions (PVCs)
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Polymorphic PVC Bigeminy
 
 
 
 
 
 
 
 
 
 
 
Bidirectional PVC Bigeminy
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Polymorphic VT
 
 
 
 
 
 
 
 
 
 
 
Bidirectional VT


Epinephrine Infusion

Holter monitoring

Imaging

Genetic testing

Treatment

  • The therapeutic approach to CPVT includes changes in lifestyle, medical therapy, left ventricular sympathetic denervation, and the use of implantable cardioverter-defibrillators.

Medical therapy

Medications to treat CPVT include beta blockers, flecainide and verapamil.

Beta-blockers

Verampil

Flecainide

Implantable cardioverter-defibrillator

Sympathectomy

Prevention

ACC/AHA/ESC 2006 Guidelines for Management of Patients With Ventricular Arrhythmias and the Prevention of Sudden Cardiac Death (DO NOT EDIT) [58]

Class I
"1. Beta blockers are indicated for patients who are clinically diagnosed with CPVT on the basis of the presence of spontaneous or documented stress-induced ventricular arrhythmias. (Level of Evidence: C)"
"2. Implantation of an ICD with use of beta blockers is indicated for patients with CPVT who are survivors of cardiac arrest and who have reasonable expectation of survival with a good functional status for more than 1 y. (Level of Evidence: C)"
Class IIa
"1. Beta blockers can be effective in patients without clinical manifestations when the diagnosis of CPVT is established during childhood based on genetic analysis. (Level of Evidence: C)"
"2. Implantation of an ICD with the use of beta blockers can be effective for affected patients with CPVT with syncope and/or documented sustained VT while receiving beta blockers and who have reasonable expectation of survival with a good functional status for more than 1 y. (Level of Evidence: C)"
Class IIb
"1. Beta blockers may be considered for patients with CPVT who were genetically diagnosed in adulthood and never manifested clinical symptoms of tachyarrhythmias. (Level of Evidence: C)"

References

  1. Reid, D S; Tynan, M; Braidwood, L; Fitzgerald, G R (1975). "Bidirectional tachycardia in a child. A study using His bundle electrography". Heart. 37 (3): 339–344. doi:10.1136/hrt.37.3.339. ISSN 1355-6037.
  2. 2.0 2.1 2.2 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)
  3. 3.0 3.1 3.2 3.3 3.4 3.5 3.6 3.7 3.8 Leenhardt, Antoine; Lucet, Vincent; Denjoy, Isabelle; Grau, Francis; Ngoc, Dien Do; Coumel, Philippe (1995). "Catecholaminergic Polymorphic Ventricular Tachycardia in Children". Circulation. 91 (5): 1512–1519. doi:10.1161/01.CIR.91.5.1512. ISSN 0009-7322.
  4. 4.0 4.1 4.2 4.3 4.4 4.5 4.6 4.7 4.8 Priori, Silvia G.; Napolitano, Carlo; Memmi, Mirella; Colombi, Barbara; Drago, Fabrizio; Gasparini, Maurizio; DeSimone, Luciano; Coltorti, Fernando; Bloise, Raffaella; Keegan, Roberto; Cruz Filho, Fernando E.S.; Vignati, Gabriele; Benatar, Abraham; DeLogu, Angelica (2002). "Clinical and Molecular Characterization of Patients With Catecholaminergic Polymorphic Ventricular Tachycardia". Circulation. 106 (1): 69–74. doi:10.1161/01.CIR.0000020013.73106.D8. ISSN 0009-7322.
  5. 5.0 5.1 5.2 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.
  6. Liu, Nian; Colombi, Barbara; Memmi, Mirella; Zissimopoulos, Spyros; Rizzi, Nicoletta; Negri, Sara; Imbriani, Marcello; Napolitano, Carlo; Lai, F. Anthony; Priori, Silvia G. (2006). "Arrhythmogenesis in Catecholaminergic Polymorphic Ventricular Tachycardia". Circulation Research. 99 (3): 292–298. doi:10.1161/01.RES.0000235869.50747.e1. ISSN 0009-7330.
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  11. 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.
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Electrocardiography