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Case Report: Rapid and progressive left ventricular endocardial calcification in an infant with Williams syndrome
Jie Zhou1,2, Dan Liu1,2, Jiao Chen1,2,3
1Department of Ultrasonic Medicine, West China Second University Hospital of Sichuan University, Chengdu, China.
Insights
Williams syndrome (WS) infants rarely develop endocardial calcification. This case report details an infant with WS and a novel deletion presenting with arterial stenosis and endocardial calcification.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Williams syndrome (WS) is a genetic disorder associated with various clinical manifestations, notably cardiovascular abnormalities.
- Endocardial calcification is a rare finding, typically linked to severe myocardial injury from diverse causes.
Observation:
- This report describes a unique case of an infant diagnosed with Williams syndrome.
- The infant presented with rapidly worsening arterial stenosis and left ventricular endocardial calcification.
Findings:
- A novel heterozygous deletion was identified in the infant.
- This is the first documented instance of endocardial calcification in an infant with Williams syndrome.
Implications:
- This case highlights a rare cardiovascular complication in Williams syndrome, suggesting a potential link between specific genetic deletions and endocardial calcification.
- Further research is warranted to understand the mechanisms and prevalence of this association in WS patients.
Abstract:
Williams syndrome (WS) is characterized by a range of clinical features, including cardiovascular disease, distinctive facial traits, neurobehavioral disorders, and a condition known as transient infantile hypercalcemia. Among these, endocardial calcification represents a non-specific response to severe, etiologically diverse myocardial injuries. In this report, we document a unique case involving an infant with WS who exhibited rapidly progressive arterial stenosis and left ventricular endocardial calcification, associated with a novel heterozygous deletion. While arterial stenosis is the most frequently observed cardiovascular issue in WS, instances of endocardial calcification during infancy are exceedingly rare and have not previously been reported in the context of WS.
