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.
Division of Cardiology, Kobe National Hospital, Japan.
M
M
Kawata
T
T
Mizutani
M
M
Shimizu
K
K
Takenaka
S
S
Kobayashi
T
T
Okada
Y
Y
Miyamoto
K
K
Kanazawa
H
H
Akita
M
M
Yokoyama
D000368:Aged; D000369:Aged, 80 and over; D000787:Angina Pectoris / Q000201:enzymology / Q000209:etiology* / Q000276:immunology; D017023:Coronary Angiography; D003329:Coronary Vasospasm / Q000201:enzymology / Q000209:etiology* / Q000276:immunology; D004252:DNA Mutational Analysis; D004562:Electrocardiography; D005192:Family Health; D005260:Female; D006680:HLA Antigens / Q000032:analysis*; D006650:Histocompatibility Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D019001:Nitric Oxide Synthase / Q000235:genetics*; D052250:Nitric Oxide Synthase Type III; D010375:Pedigree; D017354:Point Mutation
D006680:HLA Antigens; C496314:NOS3 protein, human; D019001:Nitric Oxide Synthase; D052250:Nitric Oxide Synthase Type III