Clinical and genetic profile of catecholaminergic polymorphic ventricular tachycardia in Hong Kong Chinese children

Yu, T C; Liu, A Py; Lun, Kin‐Shing; Chung, Benjamin; Yung, TC

doi:10.12809/hkmj154653

Cited by 3 publications

(3 citation statements)

References 17 publications

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“…After the exclusion of duplicated articles found in both databases, 1079 articles were included for the initial screening by reviewing the title and abstracts, where 25 articles were found to be eligible for the full text assessment. After the elimination of articles that fell under the exclusion criteria, did not meet the inclusion criteria, and articles that described overlapping cohorts [ 30 , 32 , 38 , 39 ], a total of 58 unique cases with a definite diagnosis of CPVT from eight cities in China from 15 studies were included [ 12 , 31 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 ]. All articles were critically appraised according to the Joanna Briggs Institute Critical Appraisal Checklist and were considered to be suitable for inclusion.…”

Section: Resultsmentioning

confidence: 99%

Clinical Characteristics, Genetic Findings and Arrhythmic Outcomes of Patients with Catecholaminergic Polymorphic Ventricular Tachycardia from China: A Systematic Review

Leung¹,

Lee²,

Zhou

et al. 2022

Life

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Introduction: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited cardiac ion channelopathy. The present study aims to examine the clinical characteristics, genetic basis, and arrhythmic outcomes of CPVT patients from China to elucidate the difference between CPVT patients in Asia and Western countries. Methods: PubMed and Embase were systematically searched for case reports or series reporting on CPVT patients from China until 19 February 2022 using the keyword: “Catecholaminergic Polymorphic Ventricular Tachycardia” or “CPVT”, with the location limited to: “China” or “Hong Kong” or “Macau” in Embase, with no language or publication-type restriction. Articles that did not state a definite diagnosis of CPVT and articles with duplicate cases found in larger cohorts were excluded. All the included publications in this review were critically appraised based on the Joanna Briggs Institute Critical Appraisal Checklist. Clinical characteristics, genetic findings, and the primary outcome of spontaneous ventricular tachycardia/ventricular fibrillation (VT/VF) were analyzed. Results: A total of 58 unique cases from 15 studies (median presentation age: 8 (5.0–11.8) years old) were included. All patients, except one, presented at or before 19 years of age. There were 56 patients (96.6%) who were initially symptomatic. Premature ventricular complexes (PVCs) were present in 44 out of 51 patients (86.3%) and VT in 52 out of 58 patients (89.7%). Genetic tests were performed on 54 patients (93.1%) with a yield of 87%. RyR2, CASQ2, TERCL, and SCN10A mutations were found in 35 (71.4%), 12 (24.5%), 1 (0.02%) patient, and 1 patient (0.02%), respectively. There were 54 patients who were treated with beta-blockers, 8 received flecainide, 5 received amiodarone, 2 received verapamil and 2 received propafenone. Sympathectomy (n = 10), implantable cardioverter-defibrillator implantation (n = 8) and ablation (n = 1) were performed. On follow-up, 13 patients developed VT/VF. Conclusion: This was the first systematic review of CPVT patients from China. Most patients had symptoms on initial presentation, with syncope as the presenting complaint. RyR2 mutation accounts for more than half of the CPVT cases, followed by CASQ2, TERCL and SCN10A mutations.

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Section: Resultsmentioning

confidence: 99%

Clinical Characteristics, Genetic Findings and Arrhythmic Outcomes of Patients with Catecholaminergic Polymorphic Ventricular Tachycardia from China: A Systematic Review

Leung¹,

Lee²,

Zhou

et al. 2022

Life

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“…All patients with a diagnosis of cardiac channelopathy and primary cardiomyopathy over the past 15 years (January 2007-December 2021) have undergone either target gene panel testing using Sanger sequencing/multiplex-ligation dependent probe amplification (MLPA)/next generation sequencing or WES in Department of Paediatric Cardiology, Queen Mary Hospital, Hong Kong as previously reported (2,3,5). The service was subsequently relocated to Hong Kong Children's Hospital.…”

Section: Patient Recruitment and Clinical Data Collectionmentioning

confidence: 99%

“…As the sole tertiary paediatric cardiology center in Hong Kong, all cases of advanced inherited cardiovascular conditions are referred to and managed in our center. Our experience in the management using precision medicine has been reported, including long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), SCN5A mutation and cardiomyopathy (2)(3)(4)(5). This study aims to share our initial experience in utilizing WGS to unravel the molecular etiology in a 15-year cohort of paediatric cardiomyopathy and cardiac channelopathy.…”

mentioning

confidence: 99%

Whole genome sequencing in paediatric channelopathy and cardiomyopathy

Kwok,

Kwong,

Shi

et al. 2024

Front. Cardiovasc. Med.

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BackgroundPrecision medicine in paediatric cardiac channelopathy and cardiomyopathy has a rapid advancement over the past years. Compared to conventional gene panel and exome-based testing, whole genome sequencing (WGS) offers additional coverage at the promoter, intronic regions and the mitochondrial genome. However, the data on use of WGS to evaluate the genetic cause of these cardiovascular conditions in children and adolescents are limited.MethodsIn a tertiary paediatric cardiology center, we recruited all patients diagnosed with cardiac channelopathy and cardiomyopathy between the ages of 0 and 18 years old, who had negative genetic findings with prior gene panel or exome-based testing. After genetic counselling, blood samples were collected from the subjects and both their parents for WGS analysis.ResultsA total of 31 patients (11 cardiac channelopathy and 20 cardiomyopathy) were recruited. Four intronic splice-site variants were identified in three cardiomyopathy patients, which were not identified in previous whole exome sequencing. These included a pathogenic variant in TAFAZZIN:c.284+5G>A (Barth syndrome), a variant of unknown significance (VUS) in MYBPC3:c.1224-80G>A and 2 compound heterozygous LP variants in LTZR1 (LTZR1:c.1943-256C>T and LZTR1:c1261-3C>G) in a patient with clinical features of RASopathy. There was an additional diagnostic yield of 1.94% using WGS for identification of intronic variants, on top of conventional gene testing.ConclusionWGS plays a role in identifying additional intronic splice-site variants in paediatric patients with isolated cardiomyopathy. With the demonstrated low extra yield of WGS albeit its ability to provide potential clinically important information, WGS should be considered in selected paediatric cases of cardiac channelopathy and cardiomyopathy in a cost-effective manner.

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Pooled Analysis of Complications with Transvenous ICD Compared to Subcutaneous ICD in Patients with Catecholaminergic Polymorphic Ventricular Arrhythmia

Eckert

El‐Battrawy

Veith

et al. 2022

JPM

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Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is associated with arrhythmic events which may lead to sudden cardiac death (SCD). A leading therapy for CPVT besides medical treatment with beta-blockers is the use of an implantable cardioverter-defibrillator (ICD). For this paper we compared data from a pooled analysis to get further evidence about the complications of transvenous and subcutaneous ICDs. Methods: We gathered data from a search of PubMed, Web of Science, Cochrane Library and Cinahl. For our analysis, we chose 30 studies with a total number of 784 patients. We compared the data regarding complications caused by different ICD device types. Results: During a mean follow up of 38.9 months for the patients with ICD implantation (n = 337), data showed a complication rate of 101 (30%). A total of 330 (98%) of them received a transvenous-ICD (T-ICD) and 7 (2%) a subcutaneous-ICD (S-ICD). A total of 97 (29.4%) of the T-ICD patients and 4 (57.1%) of the S-ICD patients had at least one complication. Of the 234 complications that occurred in T-ICD patients 152 (65%) were inappropriate shocks due to supraventricular arrhythmias, T/R-wave oversensing or electrode defect, 26 (11.1%) lead fracture/failure, 1 (0.4%) electrode defect, 46 were (19.7%) events of electrical storms, 1 (0.4%) thromboembolic event, 2 (0.8%) cases of endocarditis and 6 (2.6%) infections of the ICD-pocket. Ten (100%) of the complications for the four patients with the S-ICD were an event of an inappropriate shock due to supraventricular arrhythmias, T/R-wave oversensing or electrode defect. Conclusion: Subcutaneous ICDs (S-ICD) show a certain advantage over T-ICDs regarding lead-related complications. Nevertheless, they still show problems with inappropriate shocks and other ICD related complications. Therefore, a case-by-case decision is advised, but the continuous improvement of S-ICD might make it an overall advantageous therapy option in the future.

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Clinical and genetic profile of catecholaminergic polymorphic ventricular tachycardia in Hong Kong Chinese children

Cited by 3 publications

References 17 publications

Clinical Characteristics, Genetic Findings and Arrhythmic Outcomes of Patients with Catecholaminergic Polymorphic Ventricular Tachycardia from China: A Systematic Review

Clinical Characteristics, Genetic Findings and Arrhythmic Outcomes of Patients with Catecholaminergic Polymorphic Ventricular Tachycardia from China: A Systematic Review

Whole genome sequencing in paediatric channelopathy and cardiomyopathy

Pooled Analysis of Complications with Transvenous ICD Compared to Subcutaneous ICD in Patients with Catecholaminergic Polymorphic Ventricular Arrhythmia

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