Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A

Zhu, Yao‐Bin; Zhang, Jian-Hui; Ji, Youngmi; Hu, Yanan; Wang, Hanlu; Ruan, Dan-Dan; Meng, Xiao-Rong; Lin, Xin-Fu; Luo, Jie‐Wei; Chen, Wei

doi:10.1155/2022/9716045

Cited by 3 publications

(5 citation statements)

References 47 publications

(50 reference statements)

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“…According to a study conducted by Zhu et al, BrS, also known as unexplainable sudden death syndrome, is the primary cause of sudden death in young people and affects as many as four to 10 individuals per 10,000 in the general population. The findings from this epidemiological study indicate that BrS is responsible for SCD in nearly 50% of young individuals in South Asia who have nonstructural heart disease [18]. The syndrome is likely to be the cause of 4% of all SCD cases and 20% of SCD patients who do not have structural heart disease.…”

Section: Complications and Risk Stratificationmentioning

confidence: 75%

“…Aborted SCD, syncope, seizures, and nocturnal agonal breathing are among the symptomatic manifestations. Malignant syncope can increase the risk of SCD in people who have spontaneous type one Brugada waves [18]. The risk of SCD is approximately four times higher in persons with a history of syncope than in those with no history of syncope.…”

Section: Complications and Risk Stratificationmentioning

confidence: 99%

“…The risk of SCD is approximately four times higher in persons with a history of syncope than in those with no history of syncope. In contrast, the clinical course of asymptomatic people with spontaneous type one Brugada waves is typically benign [18]. People without symptoms should have their family history reviewed.…”

Section: Complications and Risk Stratificationmentioning

confidence: 99%

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Unmasking a Silent Killer and Understanding Sudden Cardiac Death in Brugada Syndrome: A Traditional Review

Moturu¹,

Bhuchakra²,

Bodar³

et al. 2023

Cureus

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Brugada syndrome (BrS) is an intricate and heterogeneous genetic disorder that engenders a formidable risk of life-threatening ventricular arrhythmias (VAs). While initially regarded as an electrophysiological aberration, emergent studies have illuminated the presence of underlying structural anomalies in select BrS cases. Although mutations in the SCN5A gene encoding the α-subunit of the cardiac sodium channel were originally identified as a primary causative factor; they account for only a fraction of the syndrome's multifaceted complexity pointing at genetic heterogeneity as a contributing factor. Remarkably, BrS has been linked to a higher incidence of fatal arrhythmic incidents and sudden cardiac death (SCD) with about 4% of SCD cases thought to be caused by BrS. Patients who spontaneously exhibit type one Brugada ECGs are more likely to experience cardiac events, emphasizing the importance of early risk stratification. To aid in risk stratification, the Shanghai score; a multifactorial risk stratification scoring system that incorporates ECG, clinical history, family history, and genetic test results; is utilized to identify those most susceptible to SCD. Beyond single ECGs, evaluation of arrhythmic findings from 24-hour Holter monitoring, ECG variables, electrophysiologic study (EPS) status in the temporal domain, and EPS data collected over time are all critical factors in risk classification. Among management options avoidance of triggers, early risk stratification, and implantation of an Implantable Cardioverter-Defibrillator (ICD) are recommended for asymptomatic patients. For symptomatic patients, pharmacotherapy and ICD implantation are available, with the latter being a highly effective choice for treating and preventing lethal arrhythmias in BrS.

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Section: Complications and Risk Stratificationmentioning

confidence: 75%

Section: Complications and Risk Stratificationmentioning

confidence: 99%

Section: Complications and Risk Stratificationmentioning

confidence: 99%

See 1 more Smart Citation

Unmasking a Silent Killer and Understanding Sudden Cardiac Death in Brugada Syndrome: A Traditional Review

Moturu¹,

Bhuchakra²,

Bodar³

et al. 2023

Cureus

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“…Other mutations in sodium, potassium and calcium channels are responsible for the pathogenesis of BrS in 5% of cases. Besides, even in the known cases with mutations of SCN5A, incomplete penetrance and variable expressivity lead to diverse phenotypes in family members with the same mutations [7,8]. A recent study has demonstrated that mutations in the cholesterol-and fibrosis-related genes caused more severe phenotypes in patients with mutations of ion channels [8].…”

Section: Discussionmentioning

confidence: 99%

Cascade screening can be life-saving: a family with multiple cases of brugada syndrome and sudden cardiac death

et al. 2023

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Brugada syndrome (BrS) may cause a spectrum of symptoms from asymptomatic patients to those who experience cardiac arrest and sudden cardiac death. The diagnosis is confirmed after observation of type I Brugada pattern on the electrocardiogram. Following the diagnosis, risk stratification can help select therapeutic options. Cascade screening should be started to find other family members with BrS. We present a 41-year-old woman diagnosed with BrS, and cascade screening of her relatives unveiled a pedigree of BrS among their family.

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“…Unexpectedly, during initial evaluation, our proband experienced SCA and earlier syncopal episode during physical activity, which is more typical for arrhythmogenic right ventricular cardiomyopathy (ARVC) [42]. However, it should be noted that there were cases of SCA (VF while running [43]) or sudden death (SCN5A mutation carrier [44]) of patients with BrS during or after exercise described. As previously reported by us in detail, the presented patients highlight how challenging the determination of the etiology and management of syncopal and/or presyncopal episodes [45,46] can be, and that unusual triggers, such as physical exercise, may also contribute to SCD among patients with BrS.…”

Section: Characteristics Of the Patientsmentioning

confidence: 98%

Twelve-Lead ECG, Holter Monitoring Parameters, and Genetic Testing in Brugada Syndrome: Insights from Analysis of Multigenerational Family with a History of Sudden Cardiac Arrest during Physical Activity

Matusik,

Bijak,

Kaźnica-Wiatr

et al. 2023

JCM

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Brugada syndrome (BrS) is an arrhythmogenic disorder increasing the risk of syncopal episodes and sudden cardiac death. BrS usually runs through families with reduced penetrance and variable expression. We analyzed the multigenerational family of a patient who died after sudden cardiac arrest with post-mortem diagnosis of BrS. We analyzed clinical history, comprehensive arrhythmic risk, genetic findings, and additional tests, including electrocardiogram (ECG), detailed 24-hour Holter ECG results, and standard echocardiography findings, and followed up the patients in the ambulatory clinic. We analyzed a pedigree of 33 members of four generations of the family (19 male and 14 female patients). In this family, we identified 7 patients with BrS (median Modified Shanghai Score and Sieira model: 4.5 (4–6) and 1 (0–4) points, respectively), including both parents of the deceased patient, and 8 relatives with negative sodium channel blocker drug challenge test. Genetic testing revealed a novel mutation in sodium voltage-gated channel alpha subunit 5 (SCN5A) c.941A>G, (p.Tyr314Cys) inherited from the father of the proband. Patients with BrS were characterized by longer P-wave duration (120 (102–155) vs. 92.5 (88–110) ms, p = 0.013) and longer PR intervals (211.3 ±26.3 vs. 161.6 ± 18.9 ms, p = 0.001), along with more frequent positive aVR sign, but did not differ in terms of QRS duration or T-wave characteristics in resting ECGs. BrS patients were characterized by lower mean, minimal, and maximal (for all p ≤ 0.01) heart rates obtained from Holter ECG monitoring, while there was no difference in arrhythmias among investigated patients. Moreover, visual diurnal variability of ST segment changes and fragmented QRS complexes were observed in patients with BrS in Holter ECG monitoring. There were no major arrhythmic events during median follow-up of 68.7 months of alive BrS patients. These results suggest ECG features which may be associated with a diagnosis of BrS and indicate a novel SCN5A variant in BrS patients. Twelve-lead Holter ECG monitoring, with modified precordial leads placement, may be useful in BrS diagnostics and risk stratification in personalized medicine.

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Analysis of a Family with Brugada Syndrome and Sudden Cardiac Death Caused by a Novel Mutation of SCN5A

Cited by 3 publications

References 47 publications

Unmasking a Silent Killer and Understanding Sudden Cardiac Death in Brugada Syndrome: A Traditional Review

Unmasking a Silent Killer and Understanding Sudden Cardiac Death in Brugada Syndrome: A Traditional Review

Cascade screening can be life-saving: a family with multiple cases of brugada syndrome and sudden cardiac death

Twelve-Lead ECG, Holter Monitoring Parameters, and Genetic Testing in Brugada Syndrome: Insights from Analysis of Multigenerational Family with a History of Sudden Cardiac Arrest during Physical Activity

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