title: A de novo novel cardiac ryanodine mutation (Ser4155Tyr) associated with catecholaminergic polymorphic ventricular tachycardia.
abstract: 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.
authors.affiliation: First Cardiology Department, AHEPA University Hospital, Aristotle University of Thessaloniki, Greece; Royal Brompton Hospital and Harefield NHS Trust, London, United Kingdom.
authors.forename: Lilian
authors.initials: L
authors.lastname: Mantziari
authors.forename: Vassilios
authors.initials: V
authors.lastname: Vassilikos
authors.forename: Aris
authors.initials: A
authors.lastname: Anastasakis
authors.forename: Xanthippi
authors.initials: X
authors.lastname: Kotsaka
authors.forename: Stelios
authors.initials: S
authors.lastname: Paraskevaidis
authors.forename: Ioannis H
authors.initials: IH
authors.lastname: Styliadis
authors.forename: David
authors.initials: D
authors.lastname: Luria
mesh_terms: D000293:Adolescent; D000889:Anti-Arrhythmia Agents / Q000627:therapeutic use; D017147:Defibrillators, Implantable; D005260:Female; D005424:Flecainide / Q000627:therapeutic use; D005500:Follow-Up Studies; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D008790:Metoprolol / Q000627:therapeutic use; D020125:Mutation, Missense / Q000235:genetics*; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D013575:Syncope / Q000150:complications / Q000235:genetics* / Q000628:therapy; D017180:Tachycardia, Ventricular / Q000150:complications / Q000235:genetics* / Q000628:therapy; D016896:Treatment Outcome; D000098850:Polymorphic Catecholaminergic Ventricular Tachycardia
chemical_list: D000889:Anti-Arrhythmia Agents; D019837:Ryanodine Receptor Calcium Release Channel; D008790:Metoprolol; D005424:Flecainide
keywords: basic, electrophysiology-cardiac arrest/sudden death; clinical; clinical, electrophysiology-ventricular tachycardia; clinical, implantable devices-ventricular tachycardia/fibrillation; clinical, pediatrics-implantable devices; molecular biology/genetics