ArticleJournal of cardiovascular development and disease2022
Genetic Profile and Clinical Characteristics of Brugada Syndrome in the Chinese Population.
Article in Journal of cardiovascular development and disease, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed, 3 citations in OpenAlex.
- Functional Characterization of the SCN5A p.D372H Variant Associated with Brugada Syndrome.Biomedicines · 2026Article
- SpliceTransformer predicts tissue-specific splicing linked to human diseases.Nature communications · 2024Article
- A representative case of quinidine's therapeutic effect on Brugada syndrome and the negative impact of the lack of availability in some countries, with a brief note on the lack of benefit of cilostazol.HeartRhythm case reports · 2024Article
- Genetic background and clinical phenotype in a Vietnamese cohort with Brugada syndrome: A whole exome sequencing study.JRSM cardiovascular diseaseArticle
Corrections and comments
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Authors and funding
20 authors at 1 institution in 1 country.
Funding
Abstract
backgroundBrugada syndrome (BrS) is an inheritable arrhythmia syndrome that can lead to sudden cardiac death in patients while the heart structure is normal. However, the genetic background of more than 65% of BrS probands remains unclear.
objectivesThe purpose of this study is to report the variant spectrum in a Chinese cohort with suspected BrS and to analyze their distinct clinical and electrocardiographic features.
methodsPatients with suspected BrS from Tongji Hospital between 2008 and 2021 were analyzed retrospectively.
resultsA total of 79 probands were included in this study. Patients with type 1 BrS electrocardiogram (ECG) had a prolonged QRS duration compared to patients with type 2/3 BrS ECG. Of them, 59 probands underwent genetic testing. Twenty-five patients (42.37%) showed abnormal genetic testing results, and eight of them (13.56%) carried pathogenic/likely pathogenic (P/LP) mutations. Mutation carriers presented much more prominent depolarization and repolarization abnormalities than non-carriers, including a prolonged P-wave duration, QRS duration, QTc interval, decreased QRS amplitude, and deviation of the electrocardiographic axes (T-wave axis and R-wave axis). Furthermore, our study identified four novel P/LP mutations: Q3508X in
conclusionsOur study showed the variant spectrum of a suspected Chinese BrS cohort, and we identified four novel P/LP mutations in
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