Williams syndrome is a congenital multisystem disease. Cardiovascular abnormality caused by elastin deficiency is the main cause of morbidity and mortality in Williams syndrome patients. Recent studies have found that 80% of Williams syndrome patients have cardiovascular abnormalities, most of which are arterial stenosis, especially the aortic valve stenosis and pulmonary artery stenosis. Operation is the main method to treat the stenosis of the artery, and the results of the operation on the aortic valve stenosis in most centers are good, but the effect of transcatheter intervention is still not obvious, pulmonary artery reconstruction has a good effect on the treatment of peripheral pulmonary artery stenosis. Advances in genetic diagnosis, surgical techniques and treatment regimens are expected to significantly improve cardiovascular outcomes in these patients. This article reviews the latest research progress of Williams syndrome combined with cardiovascular disease.
ObjectiveTo analyze the effects of cardiovascular surgery on Williams syndrome (WS).MethodsThe clinical data of 68 WS patients undergoing cardiovascular surgery in the Department of Cardiac Surgery, Guangdong Provincial People's Hospital from January 2010 to January 2020 were retrospectively analyzed. There were 48 males and 20 females with a median age of 2.8 years ranging from 3 months to 33 years. Except one patient undergoing the coarctation repair, the rest 67 patients underwent surgical interventions to correct supravalvular aortic stenosis (SAVS) and pulmonary artery stenosis with hypothermic cardiopulmonary bypass, concommitant with 3 patients of relief of left ventricular outflow tract obstruction, 2 patients of relief of right ventricular outflow tract obstruction, 2 patients of mitral valvuloplasty, 3 patients of ventricular septal defect repair and 1 patient of arterial catheter ligation.ResultsTwo (2.9%) patients died of sudden cardiac arrest on the next day after surgery. One (1.5%) patient died of cardiac insufficiency due to severe aortic arch stenosis 3 years after surgery. The effect of SAVS was satisfactory. Two (2.9%) patients progressed to moderate aortic valvular regurgitation during postoperative follow-up. A total of 5 (7.4%) patients were re-intervened after operation for arch stenosis or pulmonary stenosis.ConclusionWS patients should be diagnosed early, followed up and assessed for cardiovascular system diseases, and timely surgical treatment has a good clinical effect.