Novel SCN5A Frameshift Mutation in Brugada Syndrome Associated With Complex Arrhythmic Phenotype

• Published in: Frontiers in genetics Vol. 10; p. 547
• Main Authors: Micaglio, Emanuele, Monasky, Michelle M, Ciconte, Giuseppe, Vicedomini, Gabriele, Conti, Manuel, Mecarocci, Valerio, Giannelli, Luigi, Giordano, Federica, Pollina, Alberto, Saviano, Massimo, Pozzi, Paolo R, Di Resta, Chiara, Benedetti, Sara, Ferrari, Maurizio, Santinelli, Vincenzo, Pappone, Carlo
• Format: Journal Article
• Language: English
• Published: Switzerland Frontiers Media S.A 06-06-2019
• Subjects: Brugada syndrome; genetic testing; Genetics; mutation; SCN5A; sodium channel; sudden cardiac death; mutation; atrial fibrillation; Brugada syndrome; sodium channel; arrhythmia; genetic testing; SCN5A; sudden cardiac death
• ISSN: 1664-8021; 1664-8021
• DOI: 10.3389/fgene.2019.00547

In this case report, we characterize a novel inherited frameshift mutation c.4700_4701del (p.Phe1567Cysfs
221) in a single copy of the
gene and its association with Brugada syndrome (BrS). The proband experienced a life-threatening ventricular arrhythmia successfully treated with DC-shock and he also suffered from supraventricular tachycardia. Ajmaline test confirmed the BrS diagnosis. No other mutation nor low frequency variants in the other 23 analyzed genes were detected. The same mutation was found in the father and sister, who were both diagnosed with BrS. We hypothesize that this mutation could be responsible for BrS and potentially linked to supraventricular tachycardias. Further studies are needed to confirm this observation and to assess the clinical relevance of this mutation, in terms of risk-stratification.