A young girl with vasospastic angina associated with mutation in endothelial nitric oxide synthase gene--a case report.

ABSTRACT

A 13-year-old girl was successfully recuperated from cardiopulmonary arrest shortly after running 80 m in a competition. The electrocardiogram, echocardiogram and 123I-MIBG myocardial scintigraphic imaging indicated myocardial ischemia in the anteroseptal wall of the left ventricle. Coronary angiography during the recovery phase revealed no stenotic lesions, and spasms of the left anterior descending artery and the left circumflex artery could be provoked by acetylcholine. The endothelial nitric oxide synthase gene abnormality associated with coronary spasms was examined. The patient had the T-786 --> C, A-922 --> G, and T-1468 --> A mutations in the 5'-flanking region on one allele of the endothelial nitric oxide synthase gene. To the authors' knowledge, she represents the first case of life-threatening coronary spasms in childhood associated with mutations in the endothelial nitric oxide synthase gene.