Two case reports of anophthalmia and congenital heart disease: Adding a new dimension to this association.
Anophthalmia is the congenital absence of ocular tissue from the orbit. Many syndromes and malformations (e.g., anophthalmia-esophageal-genital syndrome, Matthew-Wood syndrome, CHARGE syndrome, oculo-facial-cardio-dental-syndome, heterotaxy, and Fraser syndrome) have been associated with anophthalmia. However, its relation with congenital heart disease has not been fully elucidated. In this article, we discuss two cases of patients with anophthalmia and congenital heart defects, and we compare these findings with other syndromes with which anophthalmia has been associated. One of our two patients showed complex congenital heart disease with heterotaxia, polysplenia, and normal lung lobation. These findings may reflect a new dimension of anophthalmia, heterotaxia, and congenital heart disease associations.
Wang
Jenny
J
Department of Pathology, Children's Healthcare of Atlanta, Georgia, USA.
Steelman
Charlotte K
CK
Vincent
Robert
R
Richburg
Delene
D
Chang
Tiffany S
TS
Shehata
Bahig M
BM
D000015:Abnormalities, Multiple; D000293:Adolescent; D000853:Anophthalmos; D017809:Fatal Outcome; D005260:Female; D006330:Heart Defects, Congenital / Q000601:surgery; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D013154:Spleen / Q000002:abnormalities; D013577:Syndrome