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

Naoto Fukuda1, Singo Kurokawa, Kayo Maeda

  • 1Department of Internal Medicine and Cardiology, Kitasato University School of Medicine, Sagamihara, Japan. nfukuda@med.kitasato-u.ac.jp

Angiology
|April 8, 2003
PubMed

Insights

A young girl experienced cardiac arrest after exercise due to coronary artery spasms. Genetic mutations in endothelial nitric oxide synthase were identified as a potential cause, marking a first in childhood cases.

Area of Science:

  • Cardiology
  • Genetics
  • Pediatrics

Background:

  • Coronary artery spasms can lead to serious cardiac events.
  • Genetic factors are increasingly recognized in cardiovascular diseases.

Observation:

  • A 13-year-old female presented with cardiopulmonary arrest post-exercise.
  • Diagnostic imaging revealed myocardial ischemia.
  • Coronary angiography showed no stenotic lesions but provoked spasms.

Findings:

  • Acetylcholine provocation confirmed spasms in the left anterior descending and left circumflex arteries.
  • Genetic analysis identified mutations (T-786C, A-922G, T-1468A) in the endothelial nitric oxide synthase gene's 5'-flanking region.
  • This is the first reported case of life-threatening coronary spasms in childhood linked to endothelial nitric oxide synthase gene mutations.

Implications:

  • Highlights a potential genetic predisposition to coronary artery spasms in children.
  • Suggests the importance of genetic screening for endothelial nitric oxide synthase gene abnormalities in pediatric patients with unexplained cardiac events.
  • Advances understanding of the role of endothelial dysfunction in exercise-induced cardiac arrest in adolescents.

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