Heart transplantation in an infant with Williams‐Beuren syndrome and rapidly progressive ischemic cardiomyopathy

Abstract

Ischemic cardiomyopathy with resultant refractory HF may occur in patients with WBS, often as the result of coronary involvement with SVAS. The rapid development of arteriopathy at a young age raises concerns regarding transplant candidacy due to progressive stenoses at other arterial sites with potential detrimental impact on long-term heart graft function. We report a 2-month-old male infant diagnosed with mild aortic stenosis during the neonatal period, but subsequently developed rapidly progressive supravalvar and coronary artery stenoses leading to cardiogenic shock due to myocardial ischemia. The presentation led to the diagnosis of WBS. He required prolonged CPR including ECMO therapy. He subsequently underwent LVAD implantation as bridge to transplant and 4 days later heart transplantation. His post-operative course was complicated by prolonged mechanical ventilation and extended intensive care unit and hospital stays. However, at follow-up 18 months posttransplant he continues to have normal graft function with mild, non-progressive residual coarctation of aorta and non-progressive moderately hypoplastic pulmonary arteries. K E Y W O R D S heart transplant, willians syndrome

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

“…The first report is of a 14‐month‐old male with heart failure following repair of SVAS (González‐López et al, 2016). The second was a 2‐month‐old male with mild aortic stenosis during the neonatal period who developed heart failure as a direct consequence of a rapidly progressive supravalvar and coronary artery stenosis (Baez Hernandez et al, 2020). To our knowledge, the case described here is the first HT reported in an adolescent with WBS.…”