SCN5A missense variants (p.Ala572Asp and p.His558Arg) were identified as potential genetic triggers for ventricular arrhythmias in a family with bileaflet mitral valve prolapse.
Case Report (n=5)
Are SCN5A variants associated with life-threatening arrhythmias in familial bileaflet mitral valve prolapse?
SCN5A mutations may be a potential genetic cause of electric instability leading to ventricular arrhythmias in familial MVP cases with syncope or SCD history.
Mitral valve prolapse (MVP) is a common valvular heart defect with variable outcomes. Several studies reported MVP as an underestimated cause of life-threatening arrhythmias and sudden cardiac death (SCD), mostly in young adult women. Herein, we report a clinical and genetic investigation of a family with bileaflet MVP and a history of syncopes and resuscitated sudden cardiac death. Using family based whole exome sequencing, we identified two missense variants in the SCN5A gene. A rare variant SCN5A:p.Ala572Asp and the well-known functional SCN5A:p.His558Arg polymorphism. Both variants are shared between the mother and her daughter with a history of resuscitated SCD and syncopes, respectively. The second daughter with prodromal MVP as well as her healthy father and sister carried only the SCN5A:p.His558Arg polymorphism. Our study is highly suggestive of the contribution of SCN5A mutations as the potential genetic cause of the electric instability leading to ventricular arrhythmias in familial MVP cases with syncope and/or SCD history.
Jaouadi et al. (Mon,) conducted a case report in Familial Bileaflet Mitral Valve Prolapse (n=5). SCN5A variants was evaluated on Identification of genetic variants. SCN5A missense variants (p.Ala572Asp and p.His558Arg) were identified as potential genetic triggers for ventricular arrhythmias in a family with bileaflet mitral valve prolapse.