Cardiovascular findings in Williams–Beuren Syndrome: Experience of a single center with 127 cases

Abstract

Williams-Beuren syndrome (WBS) is a rare, microdeletion syndrome characterized by facial dysmorphisms, intellectual disability, a friendly personality, cardiovascular and other abnormalities. Cardiovascular defects (CVD) are among the most prevalent characteristics in WBS, being supravalvular aortic stenosis (SVAS) the most frequent, followed by peripheral pulmonary stenosis (PPS). A comprehensive retrospective review of medical records of 127 patients with molecular diagnosis of WBS, in a period of 20 years, was done to evaluate the incidence, the natural history of cardiovascular disease, and the need for surgical intervention, including heart transplantation (HT). A total of 94/127 patients presented with CVD. Of these 94 patients, 50% presented with SVAS and 22.3% needed heart surgery and/or cardiac catheterization including one that required HT due to severe SVAS-related heart failure at 19 years of age. The patient died in the postoperative period due to infectious complications. Cardiovascular problems are the major cause of sudden death in patients with WBS, who have a significantly higher mortality risk associated with surgical interventions.There is a higher risk for anesthesia-related adverse events and for major adverse cardiac events following surgery. End-stage heart failure due to myocardial ischemia has been described in WBS patients and it is important to consider that HT can become their only viable option. To our knowledge, the case mentioned here is the first HT reported in an adolescent with WBS. HT can be a viable therapeutic option in WBS patients with adequate evaluation, planning, and a multidisciplinary team to provide the required perioperative care and follow-up.

Long-Term Cardiovascular Findings in Williams Syndrome: A Single Medical Center Experience in Taiwan

“…In Argentina, a study reported four cases of surgical intervention for MVP [ 26 ]. Despite this, most previous studies [ 25 , 27 , 28 ] found no need for mitral surgery in WS due to the lower severity of MVP in WS [ 27 ]. According to Cha et al [ 25 ], 33% of patients with MR in WS were moderate to severe, accompanied by left ventricular and left atrial enlargement.…”

“…Furthermore, it is extremely difficult to trace the natural progression of cardiovascular diseases in patients with WS from the time of birth according to a previous study [ 17 ]. Most patients with WS had undergone cardiology evaluations before they were diagnosed with WS in real-world practice, as per previous studies [ 17 , 28 ].…”

“…The etiology of hypertension in patients with WS remains unknown. Renal artery stenosis is considered a possible cause of hypertension in patients with WS, with a prevalence rate of 7–58% [ 28 , 29 ]. In our study, 20% patients were diagnosed with hypertension at last evaluation; however, only 16.7% of these 20% patients had renal artery stenosis.…”

Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)

“…Only one fetus was prenatally diagnosed with SVAS and no case with peripheral pulmonary stenosis, whereas these two features are the most frequent cardiac lesions described postnatally in WBS (50% and 22%, respectively). 16 The common aspect of the hourglass-shaped lesion described postnatally could be difficult to detect in a fetus whose ascending aorta is smaller.…”

“…One case with premature closure of the ductus arteriosus (PCDA) was reported by Srinivasan et al 12 . About 80% of WBS patients suffer from cardiovascular defects, which are the main cause of morbidity and mortality in WBS 1,13–16 . These patients require early diagnosis and treatment.…”