Endothelial nitric oxide synthase gene mutation and human leukocyte antigen analyzed in three cases of familial vasospastic angina pectoris.

A 50-year-old woman with rest angina underwent cardiac catheterization; coronary angiography in the presence of acetylcholine revealed 99% coronary spasm of the proximal left anterior descending artery. The patient's 82-year-old mother was also admitted to hospital with rest angina. Her Holter electrocardiogram showed ST-segment elevation during the attack at rest and coronary angiography showed 99% spasm of the right coronary artery and 90% spasm of the left coronary artery. Both women complained of chest pain during the spasm, which was accompanied by ST-segment depression. The 62-year-old brother of the original patient was also found to have coronary spasm of the left coronary artery. Human leukocyte antigen was analyzed in the 2 women: A2, B51, CW1, DR8 and DQ1 were common factors. A Glu298Asp point mutation of the endothelial nitric oxide synthase gene was investigated in both parents, their 2 daughters and 2 sons, but was not detected in the 3 patients, and was detected only in the 90-year-old father who did not suffer from angina. Nor was the T-786-C mutation found in the 3 cases. Other causes of familial spasm need to be elucidated.