Key result
Nonsyndromic supravalvar aortic stenosis was associated with lower freedom from surgical and catheter interventions compared to Williams-Beuren syndrome (HR 1.62; 95% CI 1.02-2.56; P=0.04).
Why the study?
Elastin insufficiency causes recurrent vascular stenoses, but cardiovascular disease outcomes had not been compared between patients with Williams-Beuren syndrome and those with nonsyndromic supravalvar aortic stenosis.
Does a diagnosis of nonsyndromic SVAS compared to WBS predict a higher need for cardiovascular interventions in patients with elastin arteriopathy?
Cohort (n=123)
No
Does a diagnosis of nonsyndromic SVAS compared to WBS predict a higher need for cardiovascular interventions in patients with elastin arteriopathy?
Hazard Ratio: 1.62 (95% CI 1.02–2.56)
p-value: p=0.04
Patients with nonsyndromic SVAS require earlier and more frequent cardiovascular interventions compared to those with Williams-Beuren syndrome, providing important prognostic information for affected families.
May inform family counseling on intervention risk in nonsyndromic SVAS; leaves open etiology-specific management trials.
Background: Elastin insufficiency causes recurrent vascular stenoses. Hemizygous deletion of the elastin gene ( ELN ) causes Williams-Beuren syndrome (WBS), while single nucleotide variants in ELN cause nonsyndromic supravalvar aortic stenosis (SVAS). Our objective was to compare cardiovascular disease outcomes in patients with WBS and nonsyndromic SVAS. Methods: Patients (81 WBS, 42 nonsyndromic SVAS) with cardiovascular disease were included in this retrospective single center study. Freedom from surgical and catheter interventions and reinterventions was compared. Vascular tissue from 8 patients and 6 controls was analyzed for arterial wall architecture. Results: Patients with nonsyndromic SVAS presented at a younger age (median 0.3 [0.4–0.7] years) compared with patients with WBS (1.3 [0.2–3.0] years) and had lower freedom from surgical/catheter interventions compared with patients with WBS, with median event-free survival 1.1 (0.3–5.9) versus 4.7 (2.4–13.3) years, respectively (hazard ratio, 1.62 [95% CI, 1.02–2.56]; P =0.04). Patients with nonsyndromic SVAS also had a lower freedom from reinterventions ( P =0.054 by log-rank test). This was related in part to a higher frequency of primary and reinterventions for concomitant valvar aortic stenosis. Histology revealed abnormal intimal and medial thickening, disorganized and fragmented elastic fibers, reduced smooth muscle calponin expression, and increased macrophage marker, CD68, expression in the arterial walls in patients with WBS and nonsyndromic SVAS compared with controls. Conclusions: Patients with nonsyndromic SVAS require early and more frequent vascular and valvular interventions and reinterventions, in particular for concomitant valvar aortic stenosis compared with patients with WBS. This provides important prognostic information to guide counseling of affected families with cardiovascular disease and may guide primary intervention strategies based on predicted risk of restenosis.
No takes yet. Share an insight, caveat, or question.
Min et al. (2020) conducted a cohort in Elastin Arteriopathy (n=123). Nonsyndromic supravalvar aortic stenosis vs. Williams-Beuren syndrome was evaluated on Freedom from surgical and catheter interventions (HR 1.62, 95% CI 1.02-2.56, p=0.04). Nonsyndromic supravalvar aortic stenosis was associated with lower freedom from surgical and catheter interventions compared to Williams-Beuren syndrome (HR 1.62; 95% CI 1.02-2.56; P=0.04).
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: