What does this research mean for the field?

The co-occurrence of supravalvular aortic stenosis, intellectual disability, and characteristic facial features represents a previously undescribed clinical syndrome. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.ESTABLISHES_NEW_DIRECTION.

What question did this study set out to answer?

To describe the co-occurrence of supravalvular aortic stenosis, distinctive facial morphology, and intellectual disability in a series of clinical cases.

December 1, 1961CirculationOpen Access

Supravalvular Aortic Stenosis

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Why the study?

The presence of supravalvular aortic stenosis in mentally retarded patients with unusual facial features may constitute a previously undescribed syndrome.

Key Points

To describe the co-occurrence of supravalvular aortic stenosis, distinctive facial morphology, and intellectual disability in a series of clinical cases.
Clinical evaluation of four patients (N=4) identified through shared physical characteristics following surgical intervention in an index patient.
Cardiovascular assessment and clinical observation of craniofacial appearance and neurodevelopmental status.
Recognition of characteristic facial features from an initial surgical patient successfully guided the diagnosis of supravalvular aortic stenosis in three subsequent cases.
All four affected patients exhibited both intellectual subnormality and supravalvular aortic stenosis, representing a distinct clinical syndrome.

Structured PICO

Population

4 mentally subnormal patients with unusual facial features and supravalvular aortic stenosis

Outcome

Identification of a new syndrome

This paper provides the first description of a syndrome characterized by supravalvular aortic stenosis, mental retardation, and unusual facial features.

Implication

May alert clinicians to evaluate for supravalvular aortic stenosis in such patients; leaves open confirmation of a distinct syndrome.

Abstract

Facial resemblance to a patient in whom supravalvular aortic stenosis was discovered and successfully relieved at operation has led to the correct diagnosis of supravalvular stenosis in three other patients. All four patients are mentally subnormal. The presence of supravalvular aortic stenosis in mentally retarded patients with the unusual facial features here detailed may constitute a syndrome that has not previously been described.

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Cite This Study

Williams et al. (1961) studied this question.

synapsesocial.com/papers/6a6f6d5126a7f98052dc1772 https://doi.org/10.1161/01.cir.24.6.1311

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Implication

May alert clinicians to evaluate for supravalvular aortic stenosis in such patients; leaves open confirmation of a distinct syndrome.