Update of Diagnosis and Management of Inherited Cardiac Arrhythmias

Shimizu, Wataru

doi:10.1253/circj.cj-13-1217

Cited by 46 publications

(41 citation statements)

References 50 publications

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“…Despite this fact, such mutations account for only about 20% of clinical BrS. Overall, mutations in SCN5A and other causal genes 4 occur in just one third of all cases of BrS, suggesting that other genetic factors are yet to be identified.…”

Section: Discussionmentioning

confidence: 99%

“…4 Among them, the SCN5A gene accounts for the vast majority of cases.In 2009, Kapplinger et al 5 reported that 300 distinct SCN5A mutations were detected in 438 (21%) of 2111 unrelated, clinically diagnosed patients with BrS, with the mutation detection yield ranging from 11% to 28% across the 9 testing centers. Mutations in calcium channel genes, including CACNA1C (Cav1.2, BrS3), CACNB2b (Cav b2b, BrS4), and CACNA2D1 (Cav a2δ1, BrS9), have been found in ≈12%…”

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confidence: 99%

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Common Variant Near HEY2 Has a Protective Effect on Ventricular Fibrillation Occurrence in Brugada Syndrome by Regulating the Repolarization Current

Nakano

Ochi

Onohara

et al. 2016

Circ: Arrhythmia and Electrophysiology

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B rugada syndrome (BrS) is characterized by right precordial ST elevation, susceptibility to ventricular arrhythmias, and sudden cardiac death.1,2 Because the SCN5A gene, which codes for cardiac voltage-gated sodium channels, was reported to be a causative gene of BrS, 3 many other susceptibility genes have been identified. 4 Among them, the SCN5A gene accounts for the vast majority of cases.In 2009, Kapplinger et al 5 reported that 300 distinct SCN5A mutations were detected in 438 (21%) of 2111 unrelated, clinically diagnosed patients with BrS, with the mutation detection yield ranging from 11% to 28% across the 9 testing centers. Mutations in calcium channel genes, including CACNA1C (Cav1.2, BrS3), CACNB2b (Cav b2b, BrS4), and CACNA2D1 (Cav a2δ1, BrS9), have been found in ≈12%© 2016 American Heart Association, Inc. ; odds ratio, 1.7, respectively). Interestingly, the HEY2 risk allele C was less frequent in BrS patients with ventricular fibrillation than in those without (59% versus 74%; P=4.1×10 ). The HEY2 mRNA expression level in the right ventricular specimens from patients with BrS (n=20) was significantly lower in patients with CC genotype than the other genotypes (P=0.04). Additionally, during 63±28 months follow-up periods after implantable cardioverter defibrillator implantation (n=90), Kaplan-Meier event-free survival curves revealed that the cumulative rate of ventricular fibrillation events was significantly lower in cases with HEY2 CC genotype (P=0.04). Conclusions-Our findings suggest that HEY2 CC genotype may be a favorable prognostic marker for BrS, protectively acting to prevent ventricular fibrillation presumably by regulating the repolarization current. (Circ Arrhythm Electrophysiol. 2016;9:e003436. Circ Arrhythm Electrophysiol

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Common Variant Near HEY2 Has a Protective Effect on Ventricular Fibrillation Occurrence in Brugada Syndrome by Regulating the Repolarization Current

Nakano

Ochi

Onohara

et al. 2016

Circ: Arrhythmia and Electrophysiology

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“…7 In LQT3 patients, β-blockers are less effective than in LQT1 or LQT2 patients. 8 In addition, administration of a β-blocker to a patient with combined LQT3 and BrS should be avoided because treatment with a β-blocker is known to worsen the symptoms and sometimes induce ventricular fibrillation in patients with BrS. 9 For the treatment of LQT3 in isolation, class Ib antiarrhythmic drugs such as mexiletine are recommended.…”

Section: Scn5a Mutations Associated With Overlap Phenotype Of Long Qtmentioning

confidence: 99%

<i>SCN5A </i>Mutations Associated With Overlap Phenotype of Long QT Syndrome Type 3 and Brugada Syndrome

Nakaya

2014

Circ J

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“…16 Syncope is also a common occurrence. The prevalence of syncope was reported at 1-2% in the general population.…”

Section: Discussionmentioning

confidence: 99%

J-Wave in Patients With Syncope

Chiba

Minoura

Onishi

et al. 2015

Circ J

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2216CHIBA Y et al. Circulation JournalOfficial Journal of the Japanese Circulation Society http://www. j-circ.or.jpIn this study we evaluated the clinical significance of syncope and J-wave. Although it has been reported that syncope is a sign of sudden cardiac death (SCD) in patients with J-wave, 9 the management of syncope in patients with J-wave remains controversial.To our knowledge, there are few studies on the prevalence of J-wave in patients with syncope. To evaluate the possibility that syncope in patients with/without J-wave is caused by NMRS, we investigated whether head-up tilt test (HUT), a useful tool for diagnosing NMRS, can provide further insights into the relationship between syncope and J-wave.We therefore determined the prevalence of J-wave in patients with syncope in order to clarify the association between NMRS and J-wave. Methods SubjectsThree hundred and twenty-six consecutive patients with syncope who presented to the Department of Cardiology, Showa he presence of J-wave, also known as early repolarization (ER), is a common finding on electrocardiogram (ECG) that is seen in 1-10% of the general population, 1,2 especially in young people. J-wave is characterized by a positive deflection at the terminal of the QRS complex or notching/slurring at the terminal of the QRS complex on ECG. Its potential arrhythmogenicity, more recently, has been reported in clinical and experimental studies. 3-5 Fatal arrhythmia, however, is not commonly seen in patients with J-wave. 6 Editorial p 2110Syncope is also a common occurrence in 1-5% of the general population. 7,8 Neurally mediated reflex syncope (NMRS) is a most frequent cause of syncope. Cardiovascular event and life-threatening arrhythmia are also causes of syncope or cardiac arrest. These are important risk factors for mortality, but clinical diagnosis in some patients with syncope is difficult in the primary care setting. Fatal arrhythmia is not commonly seen in patients with syncope. Background: Syncope is a common occurrence. The presence of J-wave, also known as early repolarization, on electrocardiogram is often seen in the general population, but the relationship between syncope and J-wave is unclear.

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Update of Diagnosis and Management of Inherited Cardiac Arrhythmias

Cited by 46 publications

References 50 publications

Common Variant Near HEY2 Has a Protective Effect on Ventricular Fibrillation Occurrence in Brugada Syndrome by Regulating the Repolarization Current

Common Variant Near HEY2 Has a Protective Effect on Ventricular Fibrillation Occurrence in Brugada Syndrome by Regulating the Repolarization Current

<i>SCN5A </i>Mutations Associated With Overlap Phenotype of Long QT Syndrome Type 3 and Brugada Syndrome

J-Wave in Patients With Syncope

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