scholarly journals B-PO05-021 REPEATABILITY OF VENTRICULAR ARRHYTHMIA CHARACTERISTICS DURING EXERCISE STRESS TESTING IN PATIENTS WITH CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA

Heart Rhythm ◽  
2021 ◽  
Vol 18 (8) ◽  
pp. S379-S380
Author(s):  
Puck Peltenburg ◽  
Sanjeev NJ. Pultoo ◽  
Krystien V.V. Lieve ◽  
Sally-Ann Barker Clur ◽  
Nico A. Blom ◽  
...  
Keyword(s):  
Ventricular Tachycardia ◽  
Ventricular Arrhythmia ◽  
Stress Testing ◽  
Catecholaminergic Polymorphic Ventricular Tachycardia ◽  
Exercise Stress ◽  
Polymorphic Ventricular Tachycardia ◽  
Exercise Stress Testing

scholarly journals A Homozygous CASQ2 Mutation in a Japanese Patient with Catecholaminergic Polymorphic Ventricular Tachycardia

2019 ◽  
Vol 2019 ◽  
pp. 1-3
Author(s):  
Taishi Fujisawa ◽  
Yoshiyasu Aizawa ◽  
Yoshinori Katsumata ◽  
Akihiro Udo ◽  
Shogo Ito ◽  
...  
Keyword(s):  
Ventricular Tachycardia ◽  
Japanese Patient ◽  
Stress Testing ◽  
Catecholaminergic Polymorphic Ventricular Tachycardia ◽  
Exercise Stress ◽  
Polymorphic Ventricular Tachycardia ◽  
Ventricular Ectopy ◽  
Recessive Form ◽  
History Of ◽  
Structural Disease

A 62-year-old female had suffered from recurrent syncopal episodes triggered by physical and emotional stress since childhood. She had no family history of sudden death. An intensive examination could not detect any structural disease, and exercise stress testing provoked polymorphic ventricular ectopy followed by polymorphic ventricular tachycardia accompanied with syncope leading to a diagnosis of catecholaminergic polymorphic ventricular tachycardia (CPVT). A genetic analysis with a next generation sequencer identified a homozygous W361X mutation in the CASQ2 gene. Careful history taking disclosed that her parents had a consanguineous marriage. Here we present a Japanese patient with a recessive form of CPVT.

scholarly journals Human RyR2 (Ryanodine Receptor 2) Loss-of-Function Mutations

2021 ◽  
Vol 14 (9) ◽  
Author(s):  
Yanhui Li ◽  
Jinhong Wei ◽  
Wenting Guo ◽  
Bo Sun ◽  
John Paul Estillore ◽  
...  
Keyword(s):  
Ventricular Tachycardia ◽  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Stress Testing ◽  
Functional Characterization ◽  
Catecholaminergic Polymorphic Ventricular Tachycardia ◽  
Exercise Stress ◽  
Polymorphic Ventricular Tachycardia ◽  
Loss Of Function

Background: The overall objective of the present study is to extend our understanding of the clinical phenotype and underlying mechanism of a newly discovered cardiac arrhythmia syndrome through a multicenter study. Gain-of-function mutations in the cardiac Ca 2+ release channel (RyR2 [ryanodine receptor 2]) cause catecholaminergic polymorphic ventricular tachycardia, whereas loss-of-function RyR2 mutations are linked to a new cardiac arrhythmia disorder termed Ca 2+ -release deficiency syndrome (CRDS). Catecholaminergic polymorphic ventricular tachycardia is an inherited arrhythmia disorder characterized by stress-induced bidirectional and polymorphic ventricular tachyarrhythmias and is routinely diagnosed by using exercise stress testing. Conversely, RyR2-CRDS is characterized by ventricular arrhythmias and sudden cardiac death but a negative exercise stress testing for catecholaminergic polymorphic ventricular tachycardia. There are currently no clinical diagnostic tests for CRDS and affected patients may manifest with sudden cardiac death as their first symptom. In the absence of effective clinical diagnostic tools, in vitro functional characterization of associated RyR2 mutations provides an alternative means to identify potential cases of CRDS. Methods: We searched for patients presenting with phenotypes compatible with CRDS that have RyR2 mutations and performed in vitro functional characterization. Results: We found that 3 novel (G570D, R4147K, and A4203V) and 2 previously reported (M4109R and A4204V) RyR2 mutations associated with CRDS phenotypes markedly reduced caffeine-induced Ca 2+ release and store overload-induced Ca 2+ release. We also characterized 2 additional loss-of-function RyR2 mutations previously reported (Q3925E and L4769S) that are located in the central and channel pore-forming domains critical for Ca 2+ activation and channel gating. Q3925E was identified through postmortem genetic testing in an individual who died suddenly, while L4769S is a variant of uncertain significance reported in ClinVar, suggesting that RyR2 CRDS may be under detected. Conclusions: These findings provide further support for the existence of an emerging RyR2 loss-of-function associated arrhythmia syndrome (CRDS) and shed new insights into the disease mechanism.

Monogenic and oligogenic cardiovascular diseases: genetics of arrhythmias—catecholaminergic polymorphic ventricular tachycardia

ESC CardioMed ◽  
2018 ◽  
pp. 683-685
Author(s):  
Peter J. Schwartz ◽  
Lia Crotti
Keyword(s):  
Ventricular Tachycardia ◽  
Beta Blockers ◽  
Stress Test ◽  
Exercise Stress Test ◽  
Catecholaminergic Polymorphic Ventricular Tachycardia ◽  
Exercise Stress ◽  
Polymorphic Ventricular Tachycardia ◽  
Cascade Screening ◽  
Icd Implantation ◽  
Symptomatic Diagnosis

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited disorder associated with syncope and sudden death manifesting in the young during sympathetic activation. The electrocardiogram is normal and the heart is structurally normal. The diagnosis is usually made with an exercise stress test that shows a typical pattern of onset and offset of adrenergically induced ventricular arrhythmias. Molecular screening of RyR2, the major CPVT gene, is recommended whenever the suspicion of CPVT is high. If a disease-causing mutation is identified, cascade screening allows pre-symptomatic diagnosis among family members. All affected subjects should be treated with beta blockers (nadolol or propranolol). Preliminary data support the association of beta blockers with flecainide. After a cardiac arrest, an implantable cardioverter defibrillator (ICD) should be implanted, but it is accompanied by a disquietingly high incidence of adverse effects. After syncope on beta blocker therapy, left cardiac sympathetic denervation is most effective, preserves quality of life, and does not preclude a subsequent ICD implantation.

Abbreviated rapid onset exercise stress testing for the exposure of ventricular arrhythmia

1980 ◽  
Vol 45 (2) ◽  
pp. 420 ◽  
Author(s):  
Thomas B. Graboys ◽  
Arno Schoeneberger ◽  
Regis A. DeSilva ◽  
Virginia Towne ◽  
Bernard Lown
Keyword(s):  
Ventricular Arrhythmia ◽  
Stress Testing ◽  
Rapid Onset ◽  
Exercise Stress ◽  
Exercise Stress Testing

Monogenic and oligogenic cardiovascular diseases: genetics of arrhythmias—catecholaminergic polymorphic ventricular tachycardia

2018 ◽  
Author(s):  
Peter J. Schwartz ◽  
Lia Crotti
Keyword(s):  
Ventricular Tachycardia ◽  
Beta Blockers ◽  
Stress Test ◽  
Exercise Stress Test ◽  
Catecholaminergic Polymorphic Ventricular Tachycardia ◽  
Exercise Stress ◽  
Polymorphic Ventricular Tachycardia ◽  
Cascade Screening ◽  
Icd Implantation ◽  
Symptomatic Diagnosis

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited disorder associated with syncope and sudden death manifesting in the young during sympathetic activation. The electrocardiogram is normal and the heart is structurally normal. The diagnosis is usually made with an exercise stress test that shows a typical pattern of onset and offset of adrenergically induced ventricular arrhythmias. Molecular screening of RyR2, the major CPVT gene, is recommended whenever the suspicion of CPVT is high. If a disease-causing mutation is identified, cascade screening allows pre-symptomatic diagnosis among family members. All affected subjects should be treated with beta blockers (nadolol or propranolol). Preliminary data support the association of beta blockers with flecainide. After a cardiac arrest, an implantable cardioverter defibrillator (ICD) should be implanted, but it is accompanied by a disquietingly high incidence of adverse effects. After syncope on beta blocker therapy, left cardiac sympathetic denervation is most effective, preserves quality of life, and does not preclude a subsequent ICD implantation.

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