scholarly journals Clinical Characteristics, Genetic Findings and Arrhythmic Outcomes of Patients with Catecholaminergic Polymorphic Ventricular Tachycardia from China

2021 ◽  
Author(s):  
Sharen Lee ◽  
Justin Leung ◽  
Jiandong Zhou ◽  
Kamalan Jeevaratnam ◽  
Ishan Lakhani ◽  
...  
Keyword(s):  
Ventricular Tachycardia ◽  
Clinical Characteristics ◽  
Beta Blockers ◽  
Case Reports ◽  
Meta Analysis ◽  
Case Series ◽  
Catecholaminergic Polymorphic Ventricular Tachycardia ◽  
Systemic Review ◽  
Polymorphic Ventricular Tachycardia ◽  
Old Patients

Introduction: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare cardiac ion channelopathy. The aim of this study is to examine the genetic basis and identify predictive factors for arrhythmic outcomes of CPVT patients from China. Methods: PubMed and MedRxiv were systematically searched for case reports or case series reporting on CPVT patients from China. Clinical characteristics, genetic findings and primary outcome of spontaneous ventricular tachycardia/ventricular fibrillation (VT/VF) were analyzed. Results: A total of 56 (median presentation age=9 [6-13] years old) patients were included. All patients except for one presented at or before 19 years of age. Fifty-three patients (94.6%) were initially symptomatic. PVCs were present in 40 out of 45 patients (88.9%) and VT in 51 out of 56 patients (91.1%). Genetic tests were performed in 50 patients (89.3%). RyR2, CASQ2 and TERCL mutations were found in 32 (57.1%), 11 (19.6%) and one (0.02%) patients, respectively. Fifty patients were treated with beta-blockers, eight patients received flecainide, four patients received amiodarone, two received verapamil and one received propafenone. Sympathectomy (n=10) and implantable-cardioverter defibrillator implantation (n=7) were performed. On follow-up, 17 patients developed incident VT/VF. Conclusion: This is the first systemic review and meta-analysis of CPVT patients from China. Most patients had symptoms on initial presentation, and around a third had VT as the presenting complaint. RyR2 mutation accounts for more than half of the CPVT cases, followed by CASQ2 and TERCL mutations. Some of these mutations have not been hitherto reported outside of China. Most patients received β-blocker therapy. Around 18% had sympathectomy and 13% had ICDs implanted.

scholarly journals Clinical Characteristics, Genetic Findings and Arrhythmic Outcomes of Patients with Catecholaminergic Polymorphic Ventricular Tachycardia from China

2021 ◽  
Author(s):  
Sharen Lee ◽  
Justin Leung ◽  
Jiandong Zhou ◽  
Kamalan Jeevaratnam ◽  
Ishan Lakhani ◽  
...  
Keyword(s):  
Ventricular Tachycardia ◽  
Clinical Characteristics ◽  
Beta Blockers ◽  
Case Reports ◽  
Meta Analysis ◽  
Case Series ◽  
Catecholaminergic Polymorphic Ventricular Tachycardia ◽  
Systemic Review ◽  
Polymorphic Ventricular Tachycardia ◽  
Old Patients

Introduction: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare cardiac ion channelopathy. The aim of this study is to examine the genetic basis and identify predictive factors for arrhythmic outcomes of CPVT patients from China. Methods: PubMed and MedRxiv were systematically searched for case reports or case series reporting on CPVT patients from China. Clinical characteristics, genetic findings and primary outcome of spontaneous ventricular tachycardia/ventricular fibrillation (VT/VF) were analyzed. Results: A total of 56 (median presentation age=9 [6-13] years old) patients were included. All patients except for one presented at or before 19 years of age. Fifty-three patients (94.6%) were initially symptomatic. PVCs were present in 40 out of 45 patients (88.9%) and VT in 51 out of 56 patients (91.1%). Genetic tests were performed in 50 patients (89.3%). RyR2, CASQ2 and TERCL mutations were found in 32 (57.1%), 11 (19.6%) and one (0.02%) patients, respectively. Fifty patients were treated with beta-blockers, eight patients received flecainide, four patients received amiodarone, two received verapamil and one received propafenone. Sympathectomy (n=10) and implantable-cardioverter defibrillator implantation (n=7) were performed. On follow-up, 17 patients developed incident VT/VF. Conclusion: This is the first systemic review and meta-analysis of CPVT patients from China. Most patients had symptoms on initial presentation, and around a third had VT as the presenting complaint. RyR2 mutation accounts for more than half of the CPVT cases, followed by CASQ2 and TERCL mutations. Some of these mutations have not been hitherto reported outside of China. Most patients received β-blocker therapy. Around 18% had sympathectomy and 13% had ICDs implanted.

Abstract 9815: Nadolol Seems to Be Superior to Selective Beta Blockers in Patients With Catecholaminergic Polymorphic Ventricular Tachycardia: Is a Smaller Arrhythmic Window Part of the Explanation?

Circulation ◽  
2015 ◽  
Vol 132 (suppl_3) ◽  
Author(s):  
Ida Skrinde Leren ◽  
Jørg Saberniak ◽  
Eman Majid ◽  
Trine F Haland ◽  
Thor Edvardsen ◽  
...  
Keyword(s):  
Heart Rate ◽  
Ventricular Tachycardia ◽  
Beta Blockers ◽  
Maximum Tolerated Dose ◽  
Catecholaminergic Polymorphic Ventricular Tachycardia ◽  
Polymorphic Ventricular Tachycardia ◽  
Maximum Heart Rate ◽  
Exercise Tests ◽  
Severe Arrhythmia ◽  
First Choice

Introduction: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inheritable arrhythmogenic disease, and typically presents as syncope or sudden cardiac death during exercise. Beta blockers are first choice therapy but little is known about antiarrhythmic effects of different beta blockers in CPVT. Nadolol has shown superior antiarrhythmic effect in other cardiomyopathies. Hypothesis: We hypothesized that nadolol is superior to selective beta blockers in arrhythmia protection in CPVT patients. Methods: We included 34 CPVT patients (age 34±19 yrs, 44% female, 88% RYR2 mutation positive). We serially performed 2 bicycle exercise tests in each patient; 1)>6 weeks on maximum tolerated dose of selective beta blockers. 2)>6 weeks on maximum tolerated dose of nadolol. We recorded resting and maximum heart rate (HR), HR at first arrhythmia and the most severe arrhythmia occurring. Arrhythmic window was defined as the difference between maximum HR and HR at first arrhythmia. Severity of arrhythmias was scored as arrhythmic score: no arrhythmias (0point), single ventricular extra systoles (1point), bigemini (2points), couplets (3points) and nonsustained VT (4points). Results: Resting HR was similar on nadolol and selective beta blockers (54±10bpm vs. 56±14bpm, p=0.50), while maximum heart rate was lower on nadolol (122±21bpm vs. 139±24bpm, p<0.01). First arrhythmias occurred at similar HR at both exercise tests (113±21bpm vs. 113±19bpm, p=1.0). Consequently, arrhythmic window was smaller during nadolol treatment (17±10bpm vs. 32±26bpm, p=0.03) (Figure) and also the arrhythmic score was lower than on selective beta blockers (1.1±1.2 vs. 2.4±0.9, p<0.01). Conclusion: Arrhythmic score was lower on nadolol compared to selective beta blockers. Also, arrhythmic window, representing the span of heart rates where arrhythmias may occur and progress in severity, was smaller. This suggests that nadolol should be the beta blocker of choice in CPVT patients.

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.

scholarly journals Challenging indication of cardioverter defibrillator implantation after sudden cardiac arrest in the very young. A case series of catecholaminergic polymorphic ventricular tachycardia secondary to De novo calmodulin p. Asn98Ser mutations

2021 ◽  
Author(s):  
Alice Maltret ◽  
Fatima Azzahrae Benaich ◽  
John Rendu ◽  
Véronique Fressart ◽  
Nathalie Roux-Buisson ◽  
...  
Keyword(s):  
Cardiac Arrest ◽  
Ventricular Tachycardia ◽  
De Novo ◽  
Sudden Cardiac Arrest ◽  
Case Series ◽  
Catecholaminergic Polymorphic Ventricular Tachycardia ◽  
Polymorphic Ventricular Tachycardia ◽  
Icd Implantation ◽  
Loop Recorder ◽  
Cardioverter Defibrillator

Abstract Background Calmodulopathie is an emerging group of primary electrical disease with various, severe and early onset phenotype. Sudden cardiac arrest/death can be the first symptom and current medical management seams insufficient to prevent recurrences. Cardioverter defibrillator implantation (ICD) in the young is challenging and can be harmful. Case Summary We report the management of 2 very young boys (aged 3.5 and 5.5 years old) who survived a sudden cardiac arrest (SCA) due to calmodulin mutation responsible of a catecholaminergic polymorphic ventricular tachycardia phenotype. In both case, SCA had an adrenergic trigger. Despite SCA, ICD implantation was denied by the parents. After thorough discussion with the family, the patients were managed with solely betablocker treatment and loop recorder implantation. At last follow-up of 30 and 23 months respectively, there were no recurrence of any cardiac event. Discussion The benefits of ICD implantation at a very young age must be weighed against the risk complication. In the youngest, whom recreative activities are under constant supervision, the decision, jointly made with the parents, could be to postpone ICD.

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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