Key result
First reported case links Williams syndrome to complex single-ventricle physiology requiring neonatal surgical palliation.
Why the study?
Williams syndrome is associated with arteriopathic derangements complicating management of complex cardiac defects, with no prior reports of single-ventricle physiology in WS.
Case Report (n=1)
This first reported case of single-ventricle physiology in Williams syndrome highlights the challenges of managing complex cardiac defects in this arteriopathic condition.
Broadens recognized cardiac anomalies in Williams syndrome; leaves open questions of prevalence and optimal management.
Williams syndrome (WS) is an arteriopathic derangement associated with supravalvular aortic stenosis and branch pulmonary stenosis. We describe double-outlet right ventricle with mitral atresia and aortic arch hypoplasia in an infant with WS. This case demonstrates the difficulty in managing patients with WS with complex cardiac defects. To our knowledge, this is the first reported single-ventricle physiology in a patient with WS. (Level of Difficulty: Advanced.)
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Katt et al. (2020) conducted a case report in Williams syndrome with complex cardiac defects (n=1). Williams syndrome with single-ventricle physiology was evaluated. An infant with Williams syndrome presented with double-outlet right ventricle, mitral atresia, and aortic arch hypoplasia, representing the first reported case of single-ventricle physiology in WS.
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