Evaluation of coronary artery abnormalities in Williams syndrome patients using myocardial perfusion scintigraphy and CT angiography.
BACKGROUND
Sudden death risk in Williams syndrome (WS) patients has been shown to be 25-100 times higher than in the general population. This study aims to detect coronary artery anomalies and myocardial perfusion defects in WS patients using noninvasive diagnostic methods.


METHODS
This study features 38 patients diagnosed with WS. In addition to physical examination, electrocardiography, and echocardiography, computed tomography (CT) angiography and rest/dipyridamole stress technetium-99m sestamibi ((99m)Tc-sestamibi) single photon emission computed tomography (SPECT) myocardial perfusion scintigraphy (MPS) were performed.


RESULTS
Twenty-one (55%) patients were male; 17 (45%) were female. The average patient age was 12 ± 5 years (2.5-26 years); the average follow-up period was 7.2 ± 4.2 years (6 months-18 years). Cardiovascular abnormalities were found in 89% of patients, the most common one being supravalvar aortic stenosis (SVAS). CT angiography revealed coronary anomalies in 10 (26%) patients, the most common ones being ectasia of the left main coronary artery and proximal right coronary artery as well as myocardial bridging. SVAS was present in 80% of patients with coronary artery anomalies. (99m)Tc-sestamibi SPECT MPS revealed findings possibly consistent with myocardial ischemia in 29% of patients, and ischemia in 7 out of 10 patients (70%) with coronary anomalies shown on CT angiography (p = 0.03).


CONCLUSIONS
Coronary artery abnormalities are relatively common in WS patients and are often accompanied by SVAS. CT angiography and dipyridamole (99m)Tc-sestamibi SPECT MPS seem to be less invasive methods of detecting coronary artery anomalies and myocardial perfusion defects in WS patients.
Department of Pediatric Cardiology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
Yakup
Y
Ergul
Kemal
K
Nisli
Hulya
H
Kayserili
Birsen
B
Karaman
Seher
S
Basaran
Memduh
M
Dursun
Ebru
E
Yilmaz
Nurhan
N
Ergul
Seher Nilgun
SN
Unal
Aygun
A
Dindar
D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D016009:Chi-Square Distribution; D002648:Child; D002675:Child, Preschool; D017023:Coronary Angiography / Q000379:methods*; D003326:Coronary Circulation; D003330:Coronary Vessel Anomalies / Q000150:complications / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000503:physiopathology; D003430:Cross-Sectional Studies; D018618:Echocardiography, Doppler, Color; D004562:Electrocardiography; D005260:Female; D006801:Humans; D008297:Male; D061330:Multidetector Computed Tomography; D055414:Myocardial Perfusion Imaging / Q000379:methods*; D011237:Predictive Value of Tests; D011379:Prognosis; D019275:Radiopharmaceuticals; D017256:Technetium Tc 99m Sestamibi; D013997:Time Factors; D015899:Tomography, Emission-Computed, Single-Photon; D014421:Turkey; D018980:Williams Syndrome / Q000150:complications*; D055815:Young Adult
D019275:Radiopharmaceuticals; D017256:Technetium Tc 99m Sestamibi