scholarly journals Clinical characteristics of three Czech families with catecholaminergic polymorphic ventricular tachycardia and pilot results of RyR2 gene mutation analysis

Cor et Vasa ◽  
2010 ◽  
Vol 52 (1-2) ◽  
pp. 39-42 ◽  
Author(s):  
Tomáš Novotný ◽  
Peter Kubuš ◽  
Pavel Vít ◽  
Alena Floriánová ◽  
Irena Dohnalová ◽  
...  
Keyword(s):  
Ventricular Tachycardia ◽  
Gene Mutation ◽  
Mutation Analysis ◽  
Clinical Characteristics ◽  
Catecholaminergic Polymorphic Ventricular Tachycardia ◽  
Polymorphic Ventricular Tachycardia ◽  
Gene Mutation Analysis

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 and Gene Mutation Analysis of the Chinese Han Population with Gitelman Syndrome: 3 Case Reports and a Literature Review

2020 ◽  
Vol 2020 ◽  
pp. 1-6
Author(s):  
Xueting Li ◽  
Ruofei Chen ◽  
Mingwei Chen
Keyword(s):  
Gene Mutation ◽  
Mutation Analysis ◽  
Clinical Characteristics ◽  
Clinical Phenotype ◽  
Gene Mutations ◽  
Gitelman Syndrome ◽  
Chinese Patients ◽  
Compound Heterozygous ◽  
Homozygous Mutation ◽  
Gene Mutation Analysis

The present study reported clinical characteristics and the results of gene mutation analysis of 3 Chinese patients with Gitelman syndrome (GS). Three patients manifested with normal blood pressure, recurrent hypokalemia, and metabolic alkalosis. Only case 2 had obvious hypomagnesemia. Gene sequencing showed a compound heterozygous mutation in SCL12A3 in case 1 and a homozygous mutation in SCL12A3 in case 2. Heterozygous mutations in SCL12A3 and CLCNKB were found in case 3. Then, the literature was reviewed. The keyword “Gitelman syndrome” was inputted into the PubMed, Wanfang Database, and CNK to search all Chinese patients with GS diagnosed by gene mutations and to extract complete clinical data from December 1998 to 2018. Finally, a total of 124 cases of GS were included. No significant differences in the levels of serum potassium and magnesium were observed among the different gene mutations, and the serum magnesium levels in adults were lower than those of the juvenile. GS with reduced blood magnesium had a serious clinical phenotype. Therefore, GS had a diverse phenotype, and its final diagnosis required genetic profiling. The relationship of gene mutation and clinical phenotype needed further study.

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.

Clinical Characteristics and ALB Gene Mutation Analysis of Korean Patients with Bisalbuminemia

2010 ◽  
Vol 30 (3) ◽  
pp. 307-011 ◽  
Author(s):  
Yong-Hyun Kim ◽  
Yong-Wha Lee ◽  
Byung Ryul Jeon ◽  
You Kyoung Lee ◽  
Hee Bong Shin ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Mutation Analysis ◽  
Clinical Characteristics ◽  
Korean Patients ◽  
Gene Mutation Analysis
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