ArticleArquivos brasileiros de cardiologia2017
Compound Heterozygous SCN5A Mutations in a Toddler - Are they Associated with a More Severe Phenotype?
Article in Arquivos brasileiros de cardiologia, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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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
10 citing papers in PubMed, 13 citations in OpenAlex.
- Multiscale computational analysis reveals enhanced allosteric modulation of Nav1.5 by dual binding of dapagliflozin and ertugliflozin.Scientific reports · 2025Article
- Clinical presentation and outcomes of patients with biallelicHeart rhythm O2 · 2025Article
- Review
- Clinical Spectrum ofGenes · 2021Article
- Distinct Features of Probands With Early Repolarization and Brugada Syndromes Carrying SCN5A Pathogenic Variants.Journal of the American College of Cardiology · 2021Article
- Life-Threatening Ventricular Arrhythmia Induced by Atrial Tachycardia in a Child with an SCN5A Mutation.Arquivos brasileiros de cardiologia · 2021Article
- Genetic Complexity of Sinoatrial Node Dysfunction.Frontiers in genetics · 2021Review
- Update on Genetic Basis of Brugada Syndrome: Monogenic, Polygenic or Oligogenic?International journal of molecular sciences · 2020Review
- Compound HeterozygousFrontiers in cardiovascular medicine · 2020Article
- NovelFrontiers in genetics · 2019Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Compound heterozygosity has been described in inherited arrhythmias, and usually associated with a more severe phenotype. Reports of this occurrence in Brugada syndrome patients are still rare. We report a study of genotype-phenotype correlation after the identification of new variants by genetic testing. We describe the case of an affected child with a combination of two different likely pathogenic SCN5A variants, presenting sinus node dysfunction, flutter and atrial fibrillation, prolonged HV interval, spontaneous type 1 Brugada pattern in the prepubescent age and familiar history of sudden death.
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