July 1973

Congenital Cardiac Disease and the "Cat Eye" Syndrome

Author Affiliations

From the Department of Cardiology (Dr. Freedom) and Clinical Genetics Division (Dr. Gerald), the Children's Hospital Medical Center, and the Department of Pediatrics, Harvard Medical School, Boston. Dr. Freedom is now with the Johns Hopkins Hospital, Baltimore.

Am J Dis Child. 1973;126(1):16-18. doi:10.1001/archpedi.1973.02110190012003

The "cat eye" syndrome is uncommon and is characterized by iridal and choroidal coloboma (giving the appearance of cat eyes), anal atresia, and genitourinary and auricular anomalies. There is usually an associated chromosomal abnormality characterized by an extra, small acrocentric fragment.

Examination of three patients with this syndrome and a review of the literature suggest that congenital heart disease, often complex, is quite frequent in the syndrome, and is usually of prognostic significance. The lesions found most frequently include total anomalous pulmonary venous return, tetralogy of Fallot, tricuspid atresia, and atrial and ventricular septal defects. These findings suggest that patients with the cat eye syndrome should be carefully examined for underlying congenital heart disease.