A De Novo Novel Cardiac Ryanodine Mutation (Ser4155Tyr) Associated with Catecholaminergic Polymorphic Ventricular Tachycardia
| Autor: | Stelios Paraskevaidis, Xanthippi Kotsaka, Aris Anastasakis, Vassilios Vassilikos, Lilian Mantziari, Ioannis H. Styliadis, David Luria |
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| Rok vydání: | 2013 |
| Předmět: |
medicine.medical_specialty
Ryanodine receptor business.industry General Medicine Implantable defibrillator Catecholaminergic polymorphic ventricular tachycardia medicine.disease Ventricular tachycardia Endocrinology Physiology (medical) Internal medicine medicine Cardiology Implantable loop recorder Missense mutation cardiovascular diseases Cardiology and Cardiovascular Medicine business Flecainide medicine.drug Metoprolol |
| Zdroj: | Annals of Noninvasive Electrocardiology. 18:571-576 |
| ISSN: | 1082-720X |
| DOI: | 10.1111/anec.12089 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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