A novel de novo missense mutation (Ser4155Tyr) in the ryanodine receptor gene was identified as a cause of CPVT in a 14-year-old girl, who was successfully managed with an ICD, beta-blockers, and flecainide.
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Inappropriate shocks from sinus tachycardia caution ICD programming in CPVT; case report leaves optimal strategies and generalizability open.
We describe the case of a 14-year-old girl with a history of syncopal episodes triggered by stress or exercise. Catecholaminergic polymorphic ventricular tachycardia was diagnosed with the aid of an implantable loop recorder. The genetic testing of the patient and her family revealed a de novo novel missense mutation (Ser4155Tyr) in the exon 90 of the ryanodine receptor gene. This mutation affects a highly conserved residue (S4155) and results to replacement of serine (S) with tyrosine (Y) leading to change in physical and chemical properties. The girl was treated with an implantable defibrillator, metoprolol and flecainide. Over 1 year of follow-up she had no recurrence of ventricular tachycardia.
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Mantziari et al. (2013) studied this question.
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