title: A novel mutation (Arg169Gln) of the cardiac ryanodine receptor gene causing exercise-induced bidirectional ventricular tachycardia.
abstract: An 18-year-old woman presented with exercise induced sudden collapse. Series of cardiac work up revealed no structural cardiac abnormalities. Bidirectional ventricular tachycardia occurred during a treadmill exercise test. Under the impression of catecholaminergic polymorphic ventricular tachycardia, we screened the cardiac ryanodine receptor gene for mutation. We identified a novel heterozygous mutation at the 169th amino acid (Arg169Gln). This amino acid is highly conserved among many species and this mutation was not present in 50 normal control subjects. This patient was treated with a beta-block with good response.
authors.forename: Chia-Hsiang
authors.initials: CH
authors.lastname: Hsueh
authors.forename: Yi-Chun
authors.initials: YC
authors.lastname: Weng
authors.forename: Chao-Yu
authors.initials: CY
authors.lastname: Chen
authors.forename: Tin-Kwang
authors.initials: TK
authors.lastname: Lin
authors.forename: Yen-Hung
authors.initials: YH
authors.lastname: Lin
authors.forename: Ling-Ping
authors.initials: LP
authors.lastname: Lai
authors.forename: Jiunn-Lee
authors.initials: JL
authors.lastname: Lin
mesh_terms: D000293:Adolescent; D001120:Arginine / Q000235:genetics; D015444:Exercise / Q000502:physiology; D005260:Female; D005973:Glutamine / Q000235:genetics; D006801:Humans; D020125:Mutation, Missense; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D017180:Tachycardia, Ventricular / Q000235:genetics*
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel; D005973:Glutamine; D001120:Arginine