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

Abstract

Isolated mitral insufficiency requiring surgical correction is extremely rare in Williams syndrome (WS). We report the case of a 25-year-old man with WS, who suffered congestive heart failure caused by severe mitral insufficiency and atrial fibrillation. We found extensive anterior leaflet prolapse, but no other cardiovascular disorders such as supra-aortic or pulmonary arterial stenosis. He underwent successful radical valve repair with a concomitant Cox-maze procedure. This reconstructive procedure was appropriate and effective surgical treatment for isolated mitral valve disease associated with WS.

Successful mitral valve repair for isolated mitral regurgitation in a child with Williams syndrome

“…2,5,8 Regarding the pathogenesis of MV prolapse or MR in Williams syndrome, it has been speculated that a defect in the elastin gene might contribute to the myxomatous degeneration and abnormal collagen synthesis in the MV. 5,6 Of note, our patient showed rapid MR progression from mild to severe during the 4 years of follow-up interval. Although severe MR necessitating surgical intervention is extremely rare in Williams syndrome, judicious follow-up of patients with MV prolapse or MR may be beneficial in determining the optimal timing of surgical intervention, if it is deemed necessary.…”

“…Pathologic examinations of excised regurgitant MV in Williams syndrome revealed myxomatous degeneration and increased collagen fibers of the leaflet tissue . Regarding the pathogenesis of MV prolapse or MR in Williams syndrome, it has been speculated that a defect in the elastin gene might contribute to the myxomatous degeneration and abnormal collagen synthesis in the MV …”

“…In the largest series of Williams syndrome, only one out of 270 patients (0.4%) showed severe MR. 1 Isolated severe MR without other cardiovascular abnormalities such as supravalvar aortic stenosis is even rarer, and to our knowledge, only five surgical cases have been reported to date. [3][4][5][6][7] Among these, two were children (14-and 15-year old) who underwent MV repair. 3,4 One of the mechanisms that caused MR in our patient was prolapse of the anterior leaflet, which was consistent with previous reports of isolated MR in Williams syndrome.…”

“…3,4 One of the mechanisms that caused MR in our patient was prolapse of the anterior leaflet, which was consistent with previous reports of isolated MR in Williams syndrome. [4][5][6] In addition, the posterior leaflet was…”