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The Pattern of Cardiovascular Malformation in the CHARGE Association

Angela E. Lin, MD; Alvin J. Chin, MD; William Devine; Sang C. Park, MD; Elaine Zackai, MD
Am J Dis Child. 1987;141(9):1010-1013. doi:10.1001/archpedi.1987.04460090087034.
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• Congenital heart disease occurred In 64% of patients with the CHARGE (coloboma, heart disease, choanal atresla, 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.

(AJDC 1987;141:1010-1013)

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