Brugada syndrome in Thailand: Three decades of progress

Veerakul, Gumpanart; Khongphatthanayothin, Apichai; Nademanee, Koonlawee

doi:10.1016/j.hroo.2022.08.011

Cited by 4 publications

(3 citation statements)

References 39 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…BrS is several times more prevalent in East, and especially Southeast, Asia compared to regions of predominantly European ancestry. After its initial description 1992 9 , it was subsequently recognised as the major cause of sudden unexplained death syndrome in Thailand, a condition causing sudden nocturnal death in young men and traditionally locally known as “ Lai Tai ” 10,11 . The high rate of BrS in Southeast Asia is not due to an increased prevalence of ultra-rare loss-of-function SCN5A coding variants; indeed a relatively lower diagnostic yield is observed compared to European ancestry cases (∼5% vs 20%) 2,12 .…”

Section: Mainmentioning

confidence: 99%

A rare non-coding enhancer variant inSCN5Acontributes to the high prevalence of Brugada syndrome in Thailand

Walsh,

Mauleekoonphairoj,

Mengarelli

et al. 2023

Preprint

Self Cite

View full text Add to dashboard Cite

Brugada syndrome (BrS) is a cardiac arrhythmia disorder that causes sudden death in young adults. Rare genetic variants in theSCN5Agene, encoding the Nav1.5 sodium channel, and common non-coding variants at this locus, are robustly associated with the condition. BrS is particularly prevalent in Southeast Asia but the underlying ancestry-specific factors remain largely unknown. Here, we performed genome sequencing of BrS probands from Thailand and population-matched controls and identified a rare non-coding variant in anSCN5Aintronic enhancer that is highly enriched in BrS cases (3.9% in cases, odds ratio 20.2-45.2) and predicted to disrupt a Mef2 transcription factor binding site. Heterozygous introduction of the enhancer variant in human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) caused significantly reducedSCN5Aexpression from the variant-containing allele and a 30% reduction in Nav1.5-mediated sodium-current density compared to isogenic controls. This is the first example of a validated rare non-coding variant at theSCN5Alocus and partly explains the increased prevalence of BrS in this geographic region.

show abstract

Section: Mainmentioning

confidence: 99%

A rare non-coding enhancer variant inSCN5Acontributes to the high prevalence of Brugada syndrome in Thailand

Walsh,

Mauleekoonphairoj,

Mengarelli

et al. 2023

Preprint

Self Cite

View full text Add to dashboard Cite

show abstract

“…However, the most important element of therapy is the implantation of the ICD, which is performed in patients with a documented history of cardiac arrest. However, this procedure is also performed if the patient has a history of inducible ventricular fibrillation during programmed pacing, documented ventricular tachyarrhythmias accompanied by faintness and type 1 ST-segment elevations on the patient's ECG [13] [14].…”

Section: Treatmentmentioning

confidence: 99%

Concise compilation of the most clinically relevant current knowledge on Brugada Syndrome

KŁAKOWICZ

KUC

KUŁAKOWSKA

et al. 2023

J Educ Health Sport

View full text Add to dashboard Cite

Brugada syndrome (BrS) is a rare disease in which arrhythmogenic changes occur in patients without any structural heart pathology. Its most dangerous complication is sudden cardiac arrest, which most often occurs around the 3rd and 4th decade of life of patients. In a similar period of time (20 - 40 years of age), the first clinical manifestations of the disease also most often occur, although this can happen even sooner in the case of a malignant form of the disease. Brugada syndrome is significantly (about 8 times) more frequently diagnosed in men, and the main factors that strongly worsen its prognosis are incidents of syncope noted in the patient's history and observed spontaneous changes in ECG studies [1][2].

show abstract

“…Region-specific arrhythmias: Veerakul et al 5 trace the history of Brugada syndrome from its initial recognition in Southeast Asians to the evolution of genetic etiology, development of diagnostic criteria, and management. They provide details of the initial randomized trial of β-blockers vs ICD, which revolutionized the management of this syndrome.…”

mentioning

confidence: 99%

Special issue on electrophysiology and arrhythmia management around the globe: Challenges and opportunities explored

Srivatsa

2022

Heart Rhythm O2

View full text Add to dashboard Cite

Brugada syndrome in Thailand: Three decades of progress

Cited by 4 publications

References 39 publications

A rare non-coding enhancer variant inSCN5Acontributes to the high prevalence of Brugada syndrome in Thailand

A rare non-coding enhancer variant inSCN5Acontributes to the high prevalence of Brugada syndrome in Thailand

Concise compilation of the most clinically relevant current knowledge on Brugada Syndrome

Special issue on electrophysiology and arrhythmia management around the globe: Challenges and opportunities explored

Contact Info

Product

Resources

About