CADENA ULLAURI, SANTIAGO ANDRESANTIAGO ANDRECADENA ULLAURIGUEVARA RAMIREZ, ALEXANDRA PATRICIAALEXANDRA PATRICIAGUEVARA RAMIREZRita Ibarra-CastilloJosé Luis Laso-BayasRUIZ POZO, VIVIANA ALEJANDRAVIVIANA ALEJANDRARUIZ POZOPAZ CRUZ, ELUIS ANDRESELUIS ANDRESPAZ CRUZTAMAYO TRUJILLO, VICTOR RAFAELVICTOR RAFAELTAMAYO TRUJILLOSIMANCAS RACINES, DANIEL ALEJANDRODANIEL ALEJANDROSIMANCAS RACINESZAMBRANO ESPINOSA, ANA KARINAANA KARINAZAMBRANO ESPINOSA2024-10-292024-10-292024-07-2710.1186/s12872-024-04049-whttps://cris.ute.edu.ec/handle/123456789/213<jats:title>Abstract</jats:title><jats:sec> <jats:title>Background</jats:title> <jats:p>Ion channels, vital transmembrane protein complexes, regulate ion movement within cells. Germline variants in channel-encoding genes lead to channelopathies. The sodium channels in cardiac cells exhibit a structure of an alpha subunit and one to two beta subunits. The alpha subunit, encoded by the <jats:italic>SCN5A</jats:italic> gene, comprises four domains.</jats:p> </jats:sec><jats:sec> <jats:title>Case presentation</jats:title> <jats:p>A fifteen-year-old Ecuadorian female with atrial flutter and abnormal sinus rhythm with no familial history of cardiovascular disease underwent NGS with the TruSight Cardio kit (Illumina). A likely pathogenic <jats:italic>SCN5A</jats:italic> gene variant (NM_188056.2:c.2677 C &gt; Tp. Arg893Cys) was identified, associated with arrhythmias, long QT, atrial fibrillation, and Brugada syndrome. Ancestral analysis revealed a predominant European component (43.9%), followed by Native American (35.7%) and African (20.4%) components.</jats:p> </jats:sec><jats:sec> <jats:title>Conclusions</jats:title> <jats:p>The participant presents atrial flutter and conduction disorders, despite lacking typical cardiovascular risk factors. The proband carries a <jats:italic>SCN5A</jats:italic> variant that has not been previously reported in Latin America and may be associated to her phenotype. The documented arginine-to-cysteine substitution at position 893 in the protein is crucial for various cellular functions. The subject’s mixed genetic composition highlights potential genetic contributors to atrial flutter, emphasizing the need for comprehensive genetic studies, particularly in mixed populations like Ecuadorians. This case underscores the importance of genetic analysis for personalized treatment and the significance of studying diverse genetic backgrounds in understanding cardiovascular diseases.</jats:p> </jats:sec>text::journal::journal article