A Clinical Case of Catecholaminergic Polymorphic Ventricular Tachycardia: The Clinical Suspicious and the Need of Genetics

Cardiology ◽  
2017 ◽  
Vol 138 (2) ◽  
pp. 69-72 ◽  
Author(s):  
Annamaria Del Franco ◽  
Francesca Gualandi ◽  
Michele Malagù ◽  
Alessandra Ferlini ◽  
Dang Xiao ◽  
...  
Keyword(s):  
Ventricular Tachycardia ◽  
Clinical Case ◽  
Current Knowledge ◽  
Correct Diagnosis ◽  
Structural Heart Disease ◽  
Catecholaminergic Polymorphic Ventricular Tachycardia ◽  
Polymorphic Ventricular Tachycardia ◽  
Strenuous Exercise ◽  
History Of ◽  
Cardiac Channelopathy

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a very rare genetic cardiac channelopathy, which has not been sufficiently studied yet. The first clinical manifestation has been described during the first decade of life, linked to strenuous exercise or acute emotion. The absence of structural heart disease and a family history of possible arrhythmogenic disorder generally guide the diagnosis towards a potential channelopathy. The opportunity to perform an extensive genetic analysis allows physicians to make the correct diagnosis and to optimize clinical management. The identification of more CPVT cases could affirm what we already know and primarily implement the current knowledge.

scholarly journals Catecholaminergic polymorphic ventricular tachycardia complicated by dilated cardiomyopathy: a case report

2020 ◽  
Author(s):  
Granitz Christina ◽  
Jirak Peter ◽  
Strohmer Bernhard ◽  
Pölzl Gerhard
Keyword(s):  
Heart Failure ◽  
Ventricular Tachycardia ◽  
Dilated Cardiomyopathy ◽  
Sinus Bradycardia ◽  
Clinical Care ◽  
Structural Heart Disease ◽  
Catecholaminergic Polymorphic Ventricular Tachycardia ◽  
Polymorphic Ventricular Tachycardia ◽  
Myocardial Inflammation ◽  
As Stress

Abstract Background  Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a severe genetic arrhythmogenic disorder characterized by adrenergically induced ventricular tachycardia manifesting as stress-induced syncope and sudden cardiac death. While CPVT is not associated with dilated cardiomyopathy (DCM) in most cases, the combination of both disease entities poses a major diagnostic and therapeutic challenge. Case summary  We present the case of a young woman with CPVT. The clinical course since childhood was characterized by repetitive episodes of exercise-induced ventricular arrhythmias and a brady-tachy syndrome due to rapid paroxysmal atrial fibrillation and sinus bradycardia. Medical treatment included propranolol and flecainide until echocardiography showed a dilated left ventricle with severely depressed ejection fraction when the patient was 32 years old. Cardiac magnetic resonance imaging revealed non-specific late gadolinium enhancement. Myocardial inflammation, however, was excluded by subsequent endomyocardial biopsy. Genetic analysis confirmed a mutation in the cardiac ryanodine receptor but no pathogenetic variant associated with DCM. Guideline-directed medical therapy for HFrEF was limited due to symptomatic hypotension. Over the next months, the patient developed progressive heart failure symptoms that were finally managed by heart transplantation. Discussion  Management in patients with CPVT and DCM is challenging, as Class I antiarrhythmic drugs are not recommended in structural heart disease and prophylactic internal cardioverter-defibrillator implantation without adjuvant antiarrhythmic therapy can be detrimental. Regular echocardiographic screening for DCM is recommendable in patients with CPVT. A multidisciplinary team of heart failure specialists, electrophysiologists, geneticists, and imaging specialists is needed to collaborate in the delivery of clinical care.

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 The Role of Flecainide in the Management of Catecholaminergic Polymorphic Ventricular Tachycardia

2016 ◽  
Vol 5 (1) ◽  
pp. 45 ◽  
Author(s):  
Krystien VV Lieve ◽  
◽  
Arthur A Wilde ◽  
Christian van der Werf ◽  
◽  
...  
Keyword(s):  
Heart Disease ◽  
Ventricular Tachycardia ◽  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Structural Heart Disease ◽  
Current Data ◽  
Catecholaminergic Polymorphic Ventricular Tachycardia ◽  
Polymorphic Ventricular Tachycardia ◽  
Β Blockers

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare but severe genetic cardiac arrhythmia disorder, with symptoms including syncope and sudden cardiac death due to polymorphic VT or ventricular fibrillation typically triggered by exercise or emotions in the absence of structural heart disease. The cornerstone of medical therapy for CPVT is β -blockers. However, recently flecainide has been added to the therapeutic arsenal for CPVT. In this review we summarise current data on the efficacy and role of flecainide in the treatment of CPVT.

The Role of Flecainide in the Management of Catecholaminergic Polymorphic Ventricular Tachycardia

2016 ◽  
pp. 1a
Author(s):  
Krystien VV Lieve ◽  
Arthur A Wilde ◽  
Christian van der Werf ◽  
◽  
◽  
...  
Keyword(s):  
Heart Disease ◽  
Ventricular Tachycardia ◽  
Sudden Cardiac Death ◽  
Cardiac Death ◽  
Structural Heart Disease ◽  
Current Data ◽  
Catecholaminergic Polymorphic Ventricular Tachycardia ◽  
Polymorphic Ventricular Tachycardia ◽  
Β Blockers

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare but severe genetic cardiac arrhythmia disorder, with symptoms including syncope and sudden cardiac death due to polymorphic VT or ventricular fibrillation typically triggered by exercise or emotions in the absence of structural heart disease. The cornerstone of medical therapy for CPVT is β -blockers. However, recently flecainide has been added to the therapeutic arsenal for CPVT. In this review we summarise current data on the efficacy and role of flecainide in the treatment of CPVT.

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.

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.

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