Catecholaminergic polymorphic ventricular tachycardia differential diagnosis: Difference between revisions

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==Differentiating Catecholaminergic polymorphic ventricular tachycardia from other Diseases==
==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:
Catecholaminergic polymorphic ventricular tachycardia must be differentiated from other diseases that cause [[syncope]], [[ventricular tachycardia]], and [[sudden cardiac death]], such as:<ref>{{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK1289/|title=Catecholaminergic Polymorphic Ventricular Tachycardia - GeneReviews® - NCBI Bookshelf |format= |work= |accessdate=}}<ref/><ref name="YlänenPoutanen2010">{{cite journal|last1=Ylänen|first1=Kaisa|last2=Poutanen|first2=Tuija|last3=Hiippala|first3=Anita|last4=Swan|first4=Heikki|last5=Korppi|first5=Matti|title=Catecholaminergic polymorphic ventricular tachycardia|journal=European Journal of Pediatrics|volume=169|issue=5|year=2010|pages=535–542|issn=0340-6199|doi=10.1007/s00431-010-1154-2}}</ref>
*[[Arrhythmogenic right ventricular dysplasia]]
*[[Arrhythmogenic right ventricular dysplasia]]
*Short-coupled [[ventricular tachycardia]] (SC-[[torsade de pointes]] [TdP])
*Short-coupled [[ventricular tachycardia]] (SC-[[torsade de pointes]] [TdP])
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===Differentiating Catecholaminergic polymorphic ventricular tachycardia from other diseases on the basis of [[syncope]], [[sudden cardiac death]], and [[ventricular tachycardia]]===
===Differentiating Catecholaminergic polymorphic ventricular tachycardia from other diseases on the basis of [[syncope]], [[sudden cardiac death]], and [[ventricular tachycardia]]===


On the basis [[syncope]], [[sudden cardiac death]], and [[ventricular tachycardia]], Catecholaminergic polymorphic ventricular tachycardia must be differentiated from [[Arrhythmogenic right ventricular dysplasia]], Short-coupled [[ventricular tachycardia]] (SC-[[torsade de pointes]] [[TdP]]), [[Long QT syndrome]], [[Andersen-Tawil syndrome]] and [[Brugada syndrome]].<ref>{{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK1289/ |title=Catecholaminergic Polymorphic Ventricular Tachycardia - GeneReviews® - NCBI Bookshelf |format= |work= |accessdate=}}<ref/>
On the basis [[syncope]], [[sudden cardiac death]], and [[ventricular tachycardia]], Catecholaminergic polymorphic ventricular tachycardia must be differentiated from [[Arrhythmogenic right ventricular dysplasia]], Short-coupled [[ventricular tachycardia]] (SC-[[torsade de pointes]] [[TdP]]), [[Long QT syndrome]], [[Andersen-Tawil syndrome]] and [[Brugada syndrome]].


{| class="wikitable sortable"
{| class="wikitable sortable"
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! style="background: #4479BA; color: #FFFFFF; text-align: center;" |'''ECG during exercise or stress'''
! style="background: #4479BA; color: #FFFFFF; text-align: center;" |'''ECG during exercise or stress'''
|-
|-
|[[Catecholaminergic polymorphic ventricular tachycardia]]
| style="background: #DCDCDC; padding: 5px; text-align: center;"|[[Catecholaminergic polymorphic ventricular tachycardia]]
|[[Mutation]]s in [[Ryanodine receptor 2|RYR2]] and [[Calsequestrin|CASQ2]] [[gene|genes]]
| style="background: #F5F5F5; padding: 5px;" |[[Mutation]]s in [[Ryanodine receptor 2|RYR2]] and [[Calsequestrin|CASQ2]] [[gene|genes]]
|Symptoms are exercise or emotion related
|style="background: #F5F5F5; padding: 5px;" |Symptoms are exercise or emotion related


* [[Syncope]]
* [[Syncope]]
* [[Sudden cardiac death]]
* [[Sudden cardiac death]]
* [[Ventricular tachycardia]]
* [[Ventricular tachycardia]]
|
|style="background: #F5F5F5; padding: 5px;" |
* [[Sinus bradycardia]],
* [[Sinus bradycardia]],
* Prominent [[U wave|U-waves]], and  
* Prominent [[U wave|U-waves]], and  
* [[Supraventricular arrhythmias]]  
* [[Supraventricular arrhythmias]]  
|
|style="background: #F5F5F5; padding: 5px;" |
* Monomorphic [[PVC]]s
* Monomorphic [[PVC]]s
* Polymorphic or bidirectional [[PVC]]s with [[bigeminal rhythm|bigeminy]]
* Polymorphic or bidirectional [[PVC]]s with [[bigeminal rhythm|bigeminy]]
* Polymorphic [[VT]]
* Polymorphic [[VT]]
* Bidirectional [[VT]]
* Bidirectional [[VT]]
| -
| style="background: #F5F5F5; padding: 5px;" | -
|-
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Arrhythmogenic right ventricular dysplasia]]
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Arrhythmogenic right ventricular dysplasia]]
| style="background: #F5F5F5; padding: 5px;" |Usually caused by [[mutations]] in [[genes]] encoding for [[desmosomal proteins]].<ref name="BassoCorrado2009">{{cite journal|last1=Basso|first1=Cristina|last2=Corrado|first2=Domenico|last3=Marcus|first3=Frank I|last4=Nava|first4=Andrea|last5=Thiene|first5=Gaetano|title=Arrhythmogenic right ventricular cardiomyopathy|journal=The Lancet|volume=373|issue=9671|year=2009|pages=1289–1300|issn=01406736|doi=10.1016/S0140-6736(09)60256-7}}</ref>
| style="background: #F5F5F5; padding: 5px;" |Usually caused by [[mutations]] in [[genes]]<br>encoding for [[desmosomal proteins]].
| style="background: #F5F5F5; padding: 5px;" |Symptoms are usually exercise-related
| style="background: #F5F5F5; padding: 5px;" |Symptoms are usually exercise-related


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* [[Right bundle branch bloc]]k.
* [[Right bundle branch bloc]]k.
| style="background: #F5F5F5; padding: 5px;" |[[Left bundle branch block]] pattern during [[tachycardia]]
| style="background: #F5F5F5; padding: 5px;" |[[Left bundle branch block]] pattern during [[tachycardia]]
| style="background: #F5F5F5; padding: 5px;" |It primarily affects the right [[ventricle]] (RV). Changes seen are:<ref name="HundleyBluemke2010">{{cite journal|last1=Hundley|first1=W. Gregory|last2=Bluemke|first2=David A.|last3=Finn|first3=J. Paul|last4=Flamm|first4=Scott D.|last5=Fogel|first5=Mark A.|last6=Friedrich|first6=Matthias G.|last7=Ho|first7=Vincent B.|last8=Jerosch-Herold|first8=Michael|last9=Kramer|first9=Christopher M.|last10=Manning|first10=Warren J.|last11=Patel|first11=Manesh|last12=Pohost|first12=Gerald M.|last13=Stillman|first13=Arthur E.|last14=White|first14=Richard D.|last15=Woodard|first15=Pamela K.|title=ACCF/ACR/AHA/NASCI/SCMR 2010 Expert Consensus Document on Cardiovascular Magnetic Resonance|journal=Circulation|volume=121|issue=22|year=2010|pages=2462–2508|issn=0009-7322|doi=10.1161/CIR.0b013e3181d44a8f}}</ref>
| style="background: #F5F5F5; padding: 5px;" |It primarily affects the right [[ventricle]] (RV). Changes seen are:


* Fatty infiltration of the RV free wall
* Fatty infiltration of the RV free wall
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| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Short QT syndrome]]
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Short QT syndrome]]
| style="background: #F5F5F5; padding: 5px;" |
| style="background: #F5F5F5; padding: 5px;" |
* [[Mutations]] in KCNH 2 gene for SQTS 1, KCNQ 1 for SQT 2, KCNJ 2 gene for SQTS 3, CACNA1C for SQTS 4, and CACNB2b for SQTS 5  
* [[Mutations]] in KCNH 2 gene for SQTS 1,<br>KCNQ 1 for SQT 2, KCNJ 2 gene for SQTS 3,<br>CACNA1C for SQTS 4, and CACNB2b for SQTS 5  
* [[Hypercalcemia]]
* [[Hypercalcemia]]
* [[Digoxin]]
* [[Digoxin]]
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|-
|-
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Long QT syndrome]]
| style="background: #DCDCDC; padding: 5px; text-align: center;" |[[Long QT syndrome]]
| style="background: #F5F5F5; padding: 5px;" |[[Mutations]] in [[genes]] encoding for [[sodium]] and [[potassium]] [[ion channels]] in the [[heart]].
| style="background: #F5F5F5; padding: 5px;" |[[Mutations]] in [[genes]] encoding for [[sodium]]<br>and [[potassium]] [[ion channels]] in the [[heart]].
| style="background: #F5F5F5; padding: 5px;" |Symptoms are triggered by exercise, stress, certain drugs, etc  
| style="background: #F5F5F5; padding: 5px;" |Symptoms are triggered by exercise, stress, certain drugs, etc  


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(SC-[[torsade de pointes]] [[TdP]])
(SC-[[torsade de pointes]] [[TdP]])
| style="background: #F5F5F5; padding: 5px;" |Unknown
| style="background: #F5F5F5; padding: 5px;" |Unknown
| style="background: #F5F5F5; padding: 5px;" |Symptoms are not related to adrenergic stimuli,{{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK1289/ |title=Catecholaminergic Polymorphic Ventricular Tachycardia - GeneReviews® - NCBI Bookshelf |format= |work= |accessdate=}}
| style="background: #F5F5F5; padding: 5px;" |Symptoms are not related to adrenergic stimuli,
 
* [[Syncope]]
* [[Syncope]]
* [[Sudden cardiac death]]
* [[Sudden cardiac death]]

Latest revision as of 09:40, 30 July 2020

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

Overview

Catecholaminergic polymorphic ventricular tachycardia must be differentiated from Arrhythmogenic right ventricular dysplasia, Short-coupled ventricular tachycardia (SC-torsade de pointes [TdP]), Long QT syndrome and Andersen-Tawil syndrome.

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:

Differentiating Catecholaminergic polymorphic ventricular tachycardia from other diseases on the basis of syncope, sudden cardiac death, and ventricular tachycardia

On the basis syncope, sudden cardiac death, and ventricular tachycardia, Catecholaminergic polymorphic ventricular tachycardia must be differentiated from Arrhythmogenic right ventricular dysplasia, Short-coupled ventricular tachycardia (SC-torsade de pointes TdP), Long QT syndrome, Andersen-Tawil syndrome and Brugada syndrome.

Diseases Cause Clinical manifestations ECG Structural abnormalities
ECG during rest ECG during exercise or stress
Catecholaminergic polymorphic ventricular tachycardia Mutations in RYR2 and CASQ2 genes Symptoms are exercise or emotion related -
Arrhythmogenic right ventricular dysplasia Usually caused by mutations in genes
encoding for desmosomal proteins.
Symptoms are usually exercise-related

Symptoms and signs related to right ventricular failure may also be seen.

Left bundle branch block pattern during tachycardia It primarily affects the right ventricle (RV). Changes seen are:
  • Fatty infiltration of the RV free wall
  • Thinning of the RV myocardium
  • RV Dilation and Regional Wall Motion Abnormalities
Short QT syndrome Symptoms are not exercise-related or triggered

Physical examination is normal.

- -
Long QT syndrome Mutations in genes encoding for sodium
and potassium ion channels in the heart.
Symptoms are triggered by exercise, stress, certain drugs, etc
  • Prolongation of the QTc interval (>460 ms)
  • Abnormal T-wave morphology
  • Prolongation of the QTc interval (>460 ms)
  • Abnormal T-wave morphology
-
Andersen-Tawil syndrome Mutation in KCNJ2 gene. Symptoms are not related to adrenergic activation

Other significant findings include:

- -
Brugada syndrome Mutation in SCN5A gene. Symptoms occur predominantly during sleep or at rest

Other findings:

- -
Short-coupled ventricular tachycardia

(SC-torsade de pointes TdP)

Unknown Symptoms are not related to adrenergic stimuli, - -

References

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