P6581Association of neuro-psycho-behavioral troubles to catecholaminergic polymorphic ventricular tachycardia: a more severe arrhythmic phenotype?

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
L Placide ◽  
F Sacher ◽  
P Maury ◽  
V Probst ◽  
J L Pasquie
Keyword(s):  
Cardiac Arrest ◽  
Ventricular Tachycardia ◽  
Symptom Onset ◽  
Catecholaminergic Polymorphic Ventricular Tachycardia ◽  
Polymorphic Ventricular Tachycardia ◽  
Cardiac Events ◽  
Icd Implantation ◽  
Familial History ◽  
Time To Diagnosis ◽  
History Of

Abstract Catecholaminergic polymorphic ventricular tachycardia (CPVT) is defined by bidirectional or polymorphic ventricular tachycardia during adrenergic situations and is associated to a poor long-term prognosis. Clinical cases suggest an association between epilepsy and/or neuro-psycho-behavioral troubles (NPBT) to cardiac channelopathies. Methods This is a retrospective observational study based on case analysis from the INTEGRALIS database of the referral center for inherited cardiac arrythmias in Nantes. Epidemiological and clinical-biological features of the population have been studied. Patients with Presence or Absence of NPBT were compared. Results:From 8306 pts in the whole database, 533 presented with VT and 71 pts were diagnosed with CPVT and genotyped. Symptom onset occurred at a medium age of 17.1±13.5 years. Median LVEF was 65% (IQR 9,8%) and median corrected QT interval (QTc) was 399 ms (IQR 27 ms). 77.5% of pts had fainting and/or syncopes, and there were 28.2% patients with a history of cardiac arrest. Time to diagnosis was below1 year for 44.2% of symptomatic pts. Symptoms occurred during exertion for 42.3% of pts including swimming. The prevalence of NPBT was 23,9%. 74% of NPBT were convulsive seizures, 21% psycho-behavioral troubles and 5% epilepsy proved by EEG. Median age of symptom onset was younger in the group “NPBT” (12.2±4 yo vs 19.2±15.5 yo). The rate of patients with symptoms during exertion was higher in the group “NPBT” (29.4 vs 7.4% P=0.031). A mutation in the gene of Ryanodine receptor-2 was found in 64.8% of pts. Comparisons patients w/wo NPBT NPBT (N=17) Without NPBT (N=54) Familial history of Sudden death 7/17 (41.2%) 24/54 (44.4%) NS Familial history of CPVT 5/17 (29.4%) 29/54 (53.7%) NS Medium age of symptom onset (yo) 12.1±4 19.2±15.5 P=0.021 Time to diagnosis <1 year 4/17 (23.5%) 16/54 (27.8%) NS Malaises and/or syncopes 17/17 (100%) 38/54 (70.4%) P=0.035 Cardiac arrest 9/17 (52.9%) 11/54 (20.4%) P=0.025 ICD Implantation 6/17 (35.3%) 12/54 (22.2%) NS Supraventricular arrhythmias 3/17 (17.7%) 6/54 (11.1%) NS Antiepileptic treatment 5/17 (29.4%) 2/54 (3.7%) P=0.009 Conclusion NPBT appears to be associated to a younger age of symptom onset and a higher rate of serious cardiac events particularly during swimming. This study will serve as preliminary data for further clinical and experimental protocols.

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.

Abstract 910: Catecholaminergic Polymorphic Ventricular Tachycardia: Genetics, Natural History and Response to Therapy

Circulation ◽  
2007 ◽  
Vol 116 (suppl_16) ◽  
Author(s):  
Tom Rossenbacker ◽  
Raffaela Bloise ◽  
Luciana De Giuli ◽  
Emilia V Raytcheva-Buono ◽  
Juliane Theilade ◽  
...  
Keyword(s):  
Cardiac Arrest ◽  
Ventricular Tachycardia ◽  
Age At Onset ◽  
Response To Therapy ◽  
Catecholaminergic Polymorphic Ventricular Tachycardia ◽  
Polymorphic Ventricular Tachycardia ◽  
Compound Heterozygous ◽  
Mutation Carriers ◽  
History Of ◽  
Β Blockers

Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an arrhythmo-genic cardiac disease predisposing affected individuals to sudden cardiac death (SCD). Methods and Results: Here we provide data on the largest CPVT population thus far described. The study population consisted of 177 patients (64% female) of 93 families. All 93 probands (pbs) were screened for RYR2 mutations: 54 (58%) pbs carried a heterozygous RYR2 mutation, 1 pb a compound heterozygous RYR2 mutation and 3 pbs a homozygous (1), compound heterozygous (1) or heterozygous (1) CASQ2 mutation. One KCNJ2 mutation (T305I) was detected in a total of 15 pbs. In family members, another 40 RYR2 mutation carriers were identified. Only 29 of 95 gene carriers were phenotypically silent, therefore the penetrance of a RYR2 mutation was 69%. Of note, female sex was predominant among CPVT probands without a RYR2 mutation. Before the initiation of any treatment related to CPVT, 77 of 93 (83%) pbs experienced a cardiac e vent. Mean age of first event was 12±9 years. Neither sex nor the presence/absence of a RYR2 mutation was associated with a higher risk of developing events or with a younger age at onset of symptoms. Before therapy, 70% and 40% of 177 patients remained free of cardiac arrest and SCD before therapy by age 20 and 40 years, respectively. A history of juvenile SCD (<40 yrs) was present in 36% of families: the mean age of the lethal event was 18±9 yrs. One-hundred CPVT patients were initiated on β-blockers. On top, 41 patients were implanted with an ICD. During a mean follow-up time of 4.5±3 years, 28% of patients experienced a syncope (n=11), cardiac arrest (n=5) or appropriate ICD shock (n=12). Neither sex nor genotype was associated with a worse response to therapy. Conclusions: In this largest CPVT population reported so far, the presence/absence of a RYR2 mutation wasn’t associated with different clinical characteristics or response to therapy as compared to non-mutation carriers. CPVT remains a highly malignant disease with only a moderate response to β-blockers.

scholarly journals Clinical features and antiarrhythmic therapy in patients with catecholaminergic polymorphic ventricular tachycardia

2021 ◽  
Vol 28 (4) ◽  
pp. 62-69
Author(s):  
V. V. Bereznitskaya ◽  
E. K. Kulbachinskaya ◽  
M. A. Shkolnikova
Keyword(s):  
Ventricular Tachycardia ◽  
Beta Blocker ◽  
Diagnostic Methods ◽  
Antiarrhythmic Therapy ◽  
Catecholaminergic Polymorphic Ventricular Tachycardia ◽  
Polymorphic Ventricular Tachycardia ◽  
Supraventricular Arrhythmias ◽  
Cardiac Events ◽  
Icd Implantation ◽  
High Prevalence

Aims. To evaluate the long-term efficacy of antiarrhythmic therapy in patients with catecholaminergic polymorphic ventricular tachycardia (CPVT).Methods. CPVT was diagnosed in 11 patients between the ages of 3-12 years with a minimum follow-up of 10 years. The data analyzed was obtained from existing medical records that included symptoms, family screenings, treadmill tests, electrocardiography, echocardiography, implanted cardioverter-defibrillator data (ICD), and medical treatments.Results. Cardiac events were registered in 75% of patients on beta-blocker therapy. Supraventricular arrhythmias such as atrial and atrioventicular nodal tachycardia, atrial fibrillation and atrial flutter were detected using various ECG diagnostic methods in all patients, which is significantly higher than reported in similar studies. A combination of anti-arrhythmic therapy and beta-blocker treatment reduced the number of cardiac events by 50% as compared to only beta-blocker treatment.Conclusion. Multiple supraventricular arrhythmias have a high prevalence in patients with CPVT and can trigger ventricular arrhythmia. Combined antiarrhythmic therapy is effective because it prevents cardiac events in patients with CPVT. Combined antiarrhythmic therapy improves the prognosis of patients with CPVT and may help to avoid or postpone ICD implantation.

Advances in the diagnosis and treatment of catecholaminergic polymorphic ventricular tachycardia

2017 ◽  
Vol 27 (S1) ◽  
pp. S49-S56 ◽  
Author(s):  
Thomas M. Roston ◽  
Taylor C. Cunningham ◽  
Shubhayan Sanatani
Keyword(s):  
Cardiac Arrest ◽  
Ventricular Tachycardia ◽  
Ryanodine Receptor ◽  
Calcium Release ◽  
Catecholaminergic Polymorphic Ventricular Tachycardia ◽  
Polymorphic Ventricular Tachycardia ◽  
Electrical Storm ◽  
Implantable Cardioverter Defibrillators ◽  
Cardiac Events ◽  
Β Blockers

AbstractSince the sentinel description of exercise-triggered ventricular arrhythmias in 21 children, our recognition and understanding of catecholaminergic polymorphic ventricular tachycardia has improved substantially. A variety of treatments are now available, but reaching a diagnosis before cardiac arrest remains a challenge. Most cases are related to variants in the gene encoding for ryanodine receptor-2 (RyR2), which mediates calcium-induced calcium release. Up to half of cases remain genetically elusive. The condition is presently incurable, but one basic intervention, the universal administration of β-blockers, has improved survival. In the past, implantable cardioverter-defibrillators (ICDs) were frequently implanted, especially in those with a history of cardiac arrest. Treatment limitations include under-dosing and poor compliance with β-blockers, and potentially lethal ICD-related electrical storm. Newer therapies include flecainide and sympathetic ganglionectomy. Limited data have suggested that genotype may predict phenotype in catecholaminergic polymorphic ventricular tachycardia, including a higher risk of life-threatening cardiac events in subjects with variants in the C-terminus of ryanodine receptor-2 (RyR2). At present, international efforts are underway to better understand this condition through large prospective registries. The recent publication of gene therapy in an animal model of the recessive form of the disease highlights the importance of improving our understanding of the genetic underpinnings of the disease.

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.

Catecholaminergic Polymorphic Ventricular Tachycardia: Challenges During Resuscitation and Post–Cardiac Arrest Care

2020 ◽  
Vol 58 (4) ◽  
pp. 677-681
Author(s):  
Valeria Carinci ◽  
Lorenzo Gamberini ◽  
Carlo Coniglio ◽  
Gianni Casella ◽  
Giovanni Gordini ◽  
...  
Keyword(s):  
Cardiac Arrest ◽  
Ventricular Tachycardia ◽  
Catecholaminergic Polymorphic Ventricular Tachycardia ◽  
Polymorphic Ventricular Tachycardia

An International Multi-Center Cohort Study on β-blockers for the Treatment of Symptomatic Children with Catecholaminergic Polymorphic Ventricular Tachycardia

Circulation ◽  
2021 ◽  
Author(s):  
Puck J Peltenburg ◽  
Dania Kallas ◽  
Johan M. Bos ◽  
Krystien V. V. Lieve ◽  
Sonia Franciosi ◽  
...  
Keyword(s):  
Cardiac Arrest ◽  
Ventricular Tachycardia ◽  
Primary Outcome ◽  
Cox Regression ◽  
Sudden Cardiac Arrest ◽  
Interquartile Range ◽  
Catecholaminergic Polymorphic Ventricular Tachycardia ◽  
Polymorphic Ventricular Tachycardia ◽  
Secondary Outcome ◽  
First Occurrence

Background: Symptomatic children with catecholaminergic polymorphic ventricular tachycardia (CPVT) are at risk for recurrent arrhythmic events. Beta-blockers (BBs) decrease this risk, but studies comparing individual BBs in sizeable cohorts are lacking. We aimed to assess the association between risk for arrhythmic events and type of BB in a large cohort of symptomatic children with CPVT. Methods: From two international registries of patients with CPVT, RYR2 variant-carrying symptomatic children (defined as syncope or sudden cardiac arrest prior to BB initiation and age at start of BB therapy <18 years), treated with a BB were included. Cox-regression analyses with time-dependent covariates for BB and potential confounders were used to assess the hazard ratio (HR). The primary outcome was the first occurrence of sudden cardiac death, sudden cardiac arrest, appropriate implantable cardioverter-defibrillator shock, or syncope. The secondary outcome was the first occurrence of any of the primary outcomes except syncope. Results: We included 329 patients (median age at diagnosis 12 [interquartile range, 7-15] years, 35% females). Ninety-nine (30.1%) patients experienced the primary and 74 (22.5%) experienced the secondary outcome during a median follow-up of 6.7 [interquartile range, 2.8-12.5] years. Two-hundred sixteen patients (66.0%) used a non-selective BB (predominantly nadolol [n=140] or propranolol [n=70]) and 111 (33.7%) used a β1-selective BB (predominantly atenolol [n=51], metoprolol [n=33], or bisoprolol [n=19]) as initial BB. Baseline characteristics did not differ. The HR for both the primary and secondary outcomes were higher for β1-selective compared with non-selective BBs (HR, 2.04 95% CI, 1.31-3.17; and HR, 1.99; 95% CI, 1.20-3.30, respectively). When assessed separately, the HR for the primary outcome was higher for atenolol (HR, 2.68; 95% CI, 1.44-4.99), bisoprolol (HR, 3.24; 95% CI, 1.47-7.18), and metoprolol (HR, 2.18; 95% CI, 1.08-4.40) compared with nadolol, but did not differ from propranolol. The HR of the secondary outcome was only higher in atenolol compared with nadolol (HR, 2.68; 95% CI, 1.30-5.55). Conclusions: B1-selective BBs were associated with a significantly higher risk for arrhythmic events in symptomatic children with CPVT compared with non-selective BBs, specifically nadolol. Nadolol, or propranolol if nadolol is unavailable, should be the preferred BB for treating symptomatic children with CPVT.

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