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September 1987

The Pattern of Cardiovascular Malformation in the CHARGE Association

Author Affiliations

From the Divisions of Cardiology (Drs Lin and Chin), and Clinical Genetics (Dr Zackai), the Children's Hospital of Philadelphia; and the Divisions of Cardiology (Dr Park) and Pathology (Mr Devine), Children's Hospital of Pittsburgh. Dr Lin is now with the Department of Medical Genetics, The Western Pennsylvania Hospital, Pittsburgh.

Am J Dis Child. 1987;141(9):1010-1013. doi:10.1001/archpedi.1987.04460090087034

• 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)