Key result
Common cold triggers sudden cardiac collapse in Williams syndrome via coronary ostium occlusion.
Case Report (n=1)
No
Altered hemodynamic states, such as from a common cold, can lead to critical myocardial events in patients with Williams syndrome and supravalvular aortic stenosis due to coronary ostium occlusion.
Alerts clinicians to monitor illness-related hemodynamics in Williams syndrome; leaves open need for prospective coronary risk studies.
Williams syndrome is a contiguous gene deletion syndrome resulting from a heterozygous deletion on chromosome 7q11.23, and is characterized by distinctive facial features and supravalvular aortic stenosis (SVAS). This syndrome rarely presents unpredictable cardiac death, and yet, as illustrated in the present case, it is still not possible to predict it, even on close monitoring. We herein describe the case of a 6-year-old Japanese girl with Williams syndrome, who had sudden cardiac collapse due to cardiac infarction after pharyngitis. Cardiac failure followed a critical course that did not respond to catecholamine support or heart rest with extracardiac mechanical support. Although marked coronary stenosis was not present, the left coronary cusp abnormally adhered to the aortic wall, which may synergistically cause coronary ostium occlusion with SVAS. Altered hemodynamic state, even that caused by the common cold, may lead to critical myocardial events in Williams syndrome with SVAS.
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Shiohama et al. (2015) conducted a case report in Williams syndrome (n=1). Altered hemodynamics from a common cold in a 6-year-old girl with Williams syndrome led to sudden cardiac collapse due to coronary ostium occlusion by abnormal adhesion of the left coronary cusp.
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