Rare association of anophthalmia, complex congenital heart disease and pulmonary hypertension: case report.
Clinical congenital anophthalmia is described as the uni- or bilateral absence of the eyeball that might occur in isolation or as part of a syndrome. It has a very low prevalence and its etiology is heterogeneous. Complex congenital cardiac malformations are also rare. The association of congenital anophthalmia and congenital heart disease is rarer still, and the etiology of those associations is not well understood yet. We report the case of a patient who had the very rare association of bilateral anophthalmia, multiple cardiac malformations and severe pulmonary hypertension.
Cardiología/Neonatología, Hospital Pediátrico Baca Ortiz, Quito, Ecuador. Address: Avenida Colón y 6 de Diciembre, Sin número, Quito, Ecuador. Email: riosmendez@intramed.net.ar.
Raúl Enrique
RE
Ríos-Méndez
Cardiología/Neonatología, Hospital Pediátrico Baca Ortiz, Quito, Ecuador.
Michell Marola
MM
Lozano Chinga
D000853:Anophthalmos / Q000209:etiology*; D005260:Female; D006330:Heart Defects, Congenital / Q000503:physiopathology*; D006801:Humans; D006976:Hypertension, Pulmonary / Q000209:etiology* / Q000503:physiopathology; D007231:Infant, Newborn; D012720:Severity of Illness Index
 children;  congenital heart disease;  cor triatriatum;  pulmonary hypertension; anophthalmia