Commentary: It's a long road ahead

Central MessagePediatric surgical correction of Williams–Beuren syndrome–associated supravalvular aortic stenosis is not a definitive treatment. It is a long road to adulthood, and long-term follow-up is necessary.See Article page 79. Pediatric surgical correction of Williams–Beuren syndrome–associated supravalvular aortic stenosis is not a definitive treatment. It is a long road to adulthood, and long-term follow-up is necessary. See Article page 79. Williams–Beuren syndrome is a genetic abnormality caused by the deletion of multiple genes from the region q11.23 of chromosome 7. This impacts on multiple organ systems. Importantly, the gene ELN coding for elastin is deleted, which results in a lack of elastin. This is then associated with connective tissue abnormalities and cardiovascular disease, such as supravalvular aortic stenosis (SVAS) and supravalvular pulmonary stenosis. Patients with SVAS are often treated surgically during childhood. Various techniques exist, but commonly a patch angioplasty of the aortic root, sinotubular junction and ascending aorta is performed. SVAS can have a variable presentation and evolution. Type I presents as a discrete form and type II often presents as a more diffuse form that also involves the aortic arch. The exact incidence of the discreet and diffuse forms of the disease is unknown. It is important to note that aortic valve pathology may be present in approximately one half of patients with SVAS. Various studies have reported the need for reoperation after surgical repair of SVAS during childhood in a range of 0% to 32%. The most common indication for late reintervention appears to be the treatment of progressive aortic valve disease.1Deo S.V. Burkhart H.M. Dearani J.A. Schaff H.V. Supravalvar aortic stenosis: current surgical approaches and outcomes.Expert Rev Cardiovasc Ther. 2013; 11: 879-890Crossref PubMed Scopus (8) Google Scholar In the paper “Late Reoperation After Proximal Repair of Supravalvar Stenosis for Diffuse Form of Williams-Beuren Syndrome,” Katahira and colleagues2Katahira S. Sugimura Y. Lichtenberg A. Akhyari P. Late reoperation after proximal repair of supravalvar stenosis for diffuse form of Williams-Beuren syndrome.J Thorac Cardiovasc Surg Tech. 2020; 3: 79-81Google Scholar describe the case of a patient presenting at a relatively advanced age with aortic valve disease, recurrence of supravalvular aortic stenosis, and proximal arch obstruction. The authors describe their technique for replacement of the diseased aortic valve, the stenotic ascending aorta, and proximal aortic arch. A video summarizing and illustrating the procedure quite effectively is included in the report. This report demonstrates the complexity of SVAS associated with Williams–Beuren syndrome. We often hope to provide definitive treatments with repair of SVAS in the childhood period. However, reports like this are clear evidence that the natural history of genetic diseases such as Williams–Beuren syndrome is not entirely understood nor predictable. Consequently, the optimal treatment remains unknown. As congenital cardiac surgeons treating our young patients, we often hope for complete cures, but temporary treatments are what we truly offer. Undoubtedly, it's a long road ahead for children with Williams–Beuren syndrome. Late reoperation after proximal repair of supravalvular stenosis for diffuse form of Williams–Beuren syndromeJTCVS TechniquesVol. 3PreviewWilliams–Beuren syndrome is associated with various pathologies caused by a genetic mutation affecting elastin genes on chromosome 7. Elastin is a protein that plays an important role in cardiovascular tissues and is often associated with supravalvular aortic stenosis (SVAS). In this case, a mid-aged patient with previous valvuloplasty and aortic root enlargement using the Doty technique in the childhood presented with severe combined aortic valve disease and panaortic stenosis beginning at the proximal ascending aorta and further complicated by a proximal stenosis of the brachiocephalic artery. Full-Text PDF Open Access

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