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  • Title: The pattern of cardiovascular malformation in the CHARGE association.
    Author: Lin AE, Chin AJ, Devine W, Park SC, Zackai E.
    Journal: Am J Dis Child; 1987 Sep; 141(9):1010-3. PubMed ID: 2441595.
    Abstract:
    Congenital heart disease occurred in 64% of patients with the CHARGE (coloboma, heart disease, choanal atresia, retardation of postnatal growth and mental development, genitalia hypoplasia, and ear anomalies) association (55% of 67 previously described patients and 100% of 16 new patients). Of those with congenital heart disease, 42% had conotruncal anomalies (tetralogy of Fallot, double-outlet right ventricle, truncus arteriosus), and 36% had aortic arch anomalies (vascular ring, aberrant subclavian artery, interrupted aortic arch). This striking pattern of cardiovascular malformations is similar to that found in the DiGeorge sequence.
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