Cardiovascular findings, and clinical course, in patients with Williams syndrome

Abstract

Aims: We investigated the incidence and outcome of cardiac malformations in 53 patients with Williams syndrome. Methods and results:The mean age, and period of follow-up, were 3.6 and 5.3 years, with standard deviations of 4.0 and 5.6 years, respectively. Of the patients, 45 (85%) had cardiovascular anomalies, often combined. Males presented earlier than females, at the ages of 2.1 years, with standard deviation of 2.8 years, as opposed to 4.5 years, with standard deviation of 4.2 years (p < 0.01). Supravalvar aortic stenosis occurred in 32 patients (71%), pulmonary arterial stenosis in 17 (38%), and mitral valvar prolapse in 12 (27%), 9 of these having regurgitant valves. Pulmonary valvar stenosis, ventricular septal defect, coarctation of the aorta, persistent patency of the arterial duct, hypertrophic cardiomyopathy, and subaortic stenosis all occurred less frequently. In 21 patients (47%), 24 surgical or catheter interventions had been made, most often for repair of supravalvar aortic stenosis, undertaken on 16 occasions with just one recurrence, and in 4 along with surgery to the mitral valve. Other lesions requiring intervention were pulmonary valvar stenosis, pulmonary arterial stenosis, coarctation of the aorta, and subaortic stenosis. We lost 3 patients (7%), with severe supravalvar aortic stenosis and moderate or severe mitral regurgitation, 2 early and one late after surgery. Conclusion: The most frequent cardiovascular anomalies in Williams syndrome were supravalvar aortic stenosis, pulmonary arterial stenosis, and mitral valvar prolapse, which occurred more frequently in our patients than previously observed. Patients with left ventricular pressure and volume overload were at greater risk.

Successful Reconstructive Surgery for Isolated Mitral Insufficiency Associated with Williams Syndrome: Report of a Case

“…[3][4][5][6] Bruno et al reported two cases of mitral valve repair and two cases of mitral valve replacement for severe supravalvular aortic stenosis, 3 and Maisuls et al reported two cases of mitral valve replacement, combined with aortic surgery. 6 However, in these cases severe supravalvular aortic stenosis might have aggravated the mitral competence.…”

“…5 Although the mechanism of mitral valve prolapse in WS is unclear, histopathological fi ndings of excised mitral tissue have revealed myxomatous degeneration. 3,5,6 This suggests that defi cient elastin may also contribute to the myxomatous change of the mitral valve as a phenotype of connective tissue ab normalities. 7 Therefore, progressive degeneration of the valve and chordae might result in mitral insuffi ciency.…”

“…1,2 The surgical treatment of these vascular deformities is well documented; however, isolated mitral valve insuffi ciency without these manifestations of vasculopathy is unusual. [3][4][5] Moreover, mitral pathology requiring operative correction is extremely rare and an appropriate reconstructive procedure for patients with WS has not been reported. We describe the successful reconstructive treatment of a patient with isolated mitral insuffi ciency and sustained atrial fi brillation in the setting of WS.…”

The role of dental evaluation and cephalometric analysis in the diagnosis of Williams–Beuren syndrome

“…Cephalometric analysis of soft tissues can be used after 3-5 years of age, after facial soft-tissue structures are developed and stable. Early diagnosis is a key component in the successful management of WS since some of the associated conditions, such as aortic stenosis, require early treatment [3,5]. Also, infant dental care, nutrition counseling and restorative care are extremely important for maximizing the quality of life for patients with WS [14].…”

“…The syndrome is caused by a submicroscopic deletion in chromosome 7 implicating the 7q11.23 region (elastin gene) [4]. Early diagnosis of the syndrome is important since many of its features require treatment, and the prognosis can be dramatically improved by early recognition and appropriate management [5]. However, this developmental disorder is well known to be clinically heterogeneous, making diagnosis difficult if based solely on the clinical picture [6].…”