Advanced cardiovascular imaging in Williams syndrome: Abnormalities, usefulness, and strategy for use

Abstract

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.

Cardiovascular findings in Williams–Beuren Syndrome: Experience of a single center with 127 cases

“…Cardiovascular complications are deemed to be the major cause of sudden death in patients with WBS (Hills et al, 2017; Wessel et al, 2004). In this study, there were no cases of sudden death, however, 22% of patients had to undergo interventions for various cardiovascular abnormalities, a similar frequency to ones previously reported (Collins et al, 2010; Collins II et al, 2017).…”

“…Other cardiac anomalies associated with WBS are mitral valve prolapse, aorta coarctation, bicuspid aortic valve, and hypoplasia of the aorta (Pober, 2010;Yuan, 2017). Cardiac anomalies in WBS can occur as single or multiple defects (Scheiber et al, 2006), and the cardiovascular-associated mortality risk and the risk of sudden death is 25-100 times higher than that of the general population, being cardiovascular disease the main cause of morbidity and mortality in WBS (Hills et al, 2017). Guidelines for children with WBS were last published in 2020, and with regards to cardiovascular assessment, it is recommended an evaluation by a cardiologist upon diagnosis, including echocardiography, a baseline renal ultrasound, and screening for hypertension complemented by follow-up with routine peripheral pulse measurements and careful auscultation of the chest and abdomen.…”

MRI detection of occult venous anomalies in a patient with Williams syndrome: a case report

“…Advanced imaging studies are helpful to assess the entire vascular tree and in detecting subclinical arterial stenosis in more distal vessels. 5 At our institution, we have a comprehensive Williams syndrome clinic and routinely perform MRI of the entire arterial system if there is evidence of significant arterial stenosis or systemic hypertension. This allows us to assess the area of interest and potentially detect subclinical arterial stenosis within the distal vasculature.…”

Williams syndrome

“…Renal artery stenosis occurs in 7%‐58% of patients with Williams syndrome and may be a significant factor in the development of systemic hypertension . Advanced cardiovascular imaging with renal ultrasound and Doppler, CT angiography or MRI angiography are recommended to detect abnormalities of the arterial tree …”

“…15 Advanced cardiovascular imaging with renal ultrasound and Doppler, CT angiography or MRI angiography are recommended to detect abnormalities of the arterial tree. 16 The best available data on the risk of sudden death in Williams syndrome comes from the University of Gottingen, Germany where a specialized clinic has been caring for patients with Williams syndrome from the whole of Germany, many of them diagnosed by Dr Alois J. Beuren. In 2004, Wessel and colleagues reported on this unique population of 293 Williams syndrome patients, between the ages of 2 months and 55 years, which had been followed from between 1 month and 38 years, amounting to 5190 patient years.…”