ArticleCardiology research and practice2025
Unlocking the Secrets of Andersen-Tawil Syndrome: The Role of Next-Generation Sequencing in a Family With Long QT Syndrome.
Article in Cardiology research and practice, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Background: Andersen-Tawil syndrome (ATS) is a rare inheritable potassium channelopathy, accompanied by ventricular arrhythmias due to long QT intervals, muscle weakness, and dysmorphic features. Next-generation sequencing can identify the genetic causes of the phenotype. Methods: Whole-exome sequencing (WES) was performed on a 12-year-old girl with long QT syndrome and dysmorphic features. Sanger sequencing was subsequently used to confirm the variant and perform segregation analysis in the proband and all available family members. Results: WES identified a novel homozygous likely pathogenic missense variant (chr17, c.G598A, p.V200M; hg19; NM_017755.5) in Conclusions: We propose that patients with dysmorphic skeletal findings and cardiac arrhythmias be evaluated via NGS for possible genetic variants.
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