Cardiac anomalies misdiagnosed in patient with DiGeorge syndrome
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Abstract
DiGeorge syndrome is a rare disease due to the loss or deletion of a portion of chromosome 22 (22q11.2).
This case has the purpose of underlining that in syndromic pictures, even in the absence of symptoms or clinical and electrocardiographic signs referable to heart disease, particular attention is needed with second level tests in order to exclude a structural heart disease that could be silent but to constitute a contraindication to the performance of certain types of sporting activity.
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