Advanced cardiovascular imaging in Williams syndrome: Abnormalities, usefulness, and strategy for use.
Extracardiac arterial stenoses are not uncommon in Williams syndrome (WS); however, data on the utility of advanced cardiovascular imaging (CVI) to assess these stenoses are lacking. We retrospectively reviewed the frequency, indication, and diagnostic outcomes of CVI modalities performed in patients with WS evaluated at a single institution between 2001 and 2014. Data were collected and analyzed from 34 patients (56% female) who underwent CVI during the study period. The median age was 10 years (range 1.8-33 years). Excluding echocardiograms, 78 CVI studies "advanced" were performed in the 34 patients (mean 2.3 studies/patient). The most common advanced CVI was renal ultrasound with Doppler (29/34, 85%), followed by computed tomographic angiography (13/34, 38%) and magnetic resonance angiography in (9/34, 26%). Abnormalities were detected in 62% of patients (21/34). For the 20 patients in whom advanced CVI were performed for defined clinical indications, the rate of abnormalities were 73, 70, 57, and 100% when performed for anatomic delineation (15 patients), hypertension (10 patients), bruits (7 patients), and/or decreased peripheral pulses (2 patients), respectively. Advanced CVI in patients with WS reveals abnormalities in the majority of cases, and physical exam findings frequently indicate abnormalities on advanced CVI.
Department of Genetic Counseling, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Jordan A
JA
Hills
Department of Pediatrics, Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Yuri A
YA
Zarate
Department of Genetic Counseling, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Noelle R
NR
Danylchuk
Department of Genetic Counseling, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Tiffany
T
Lepard
Division of Academic Affairs, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Jean Chi-Jen
JC
Chen
Department of Pediatrics, Section of Pediatric Cardiology, University of Arkansas for Medical Sciences, Little Rock, Arkansas.
Ronnie Thomas
RT
Collins
D000293:Adolescent; D000328:Adult; D018376:Cardiovascular Abnormalities / Q000000981:diagnostic imaging* / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D004452:Echocardiography; D005260:Female; D006801:Humans; D007223:Infant; D018810:Magnetic Resonance Angiography / Q000379:methods*; D008297:Male; D018980:Williams Syndrome / Q000000981:diagnostic imaging* / Q000503:physiopathology
Williams syndrome; arterial stenosis; cardiovascular imaging