Premature coronary artery disease associated with a disruptive mutation in the estrogen receptor gene in a man.
BACKGROUND
While estrogens protect against coronary artery disease in women, it is unclear whether they influence cardiovascular function in men. The present report describes coronary vascular abnormalities and the lipoprotein profile of a male patient with estrogen insensitivity caused by a disruptive mutation in the estrogen-receptor gene.


RESULTS
Stress thallium scintigraphy, echocardiography, and electron-beam computed tomography (CT) scanning of the coronary arteries and detailed lipoprotein analysis were performed. Electron-beam CT scanning of the coronary arteries showed calcium in the left anterior descending artery. Lipoprotein analysis showed relatively low levels of total (130 mg/dL), LDL (97 mg/dL), and HDL (34 mg/dL) cholesterol; apolipoprotein A-I (91.7 mg/dL); and lipoprotein(a) (4.1 nmol/L), but normal levels of triglycerides (97 mg/dL) and pre-beta-1-HDL cholesterol (61 microg/mL).


CONCLUSIONS
The absence of functional estrogen receptors may be a novel risk factor for coronary artery disease in men.
Sudhir
K
K
Department of Medicine, University of California, San Francisco 94143-0124, USA. sudhir@cardio.ucsf.edu
Chou
T M
TM
Chatterjee
K
K
Smith
E P
EP
Williams
T C
TC
Kane
J P
JP
Malloy
M J
MJ
Korach
K S
KS
Rubanyi
G M
GM
D000328:Adult; D003327:Coronary Disease / Q000175:diagnosis / Q000235:genetics*; D004452:Echocardiography; D005080:Exercise Test; D006801:Humans; D008074:Lipoproteins / Q000097:blood; D008297:Male; D009154:Mutation / Q000502:physiology*; D011960:Receptors, Estrogen / Q000235:genetics*; D015899:Tomography, Emission-Computed, Single-Photon; D014057:Tomography, X-Ray Computed
D008074:Lipoproteins; D011960:Receptors, Estrogen