A novel mutation (Arg169Gln) of the cardiac ryanodine receptor gene causing exercise-induced bidirectional ventricular tachycardia.
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.
Hsueh
Chia-Hsiang
CH
Weng
Yi-Chun
YC
Chen
Chao-Yu
CY
Lin
Tin-Kwang
TK
Lin
Yen-Hung
YH
Lai
Ling-Ping
LP
Lin
Jiunn-Lee
JL
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*
D019837:Ryanodine Receptor Calcium Release Channel; D005973:Glutamine; D001120:Arginine