PURPOSE: Microphthalmia is a rare birth defect, which is on the spectrum of eye anomalies with Coloboma at the milder end and Anophthalmia at the most severe end. Collectively the eye defect is referred to as MAC, with an incidence of 2/10,000 births. Current guidelines for evaluation of MAC include: Chromosome studies, MRI of head and orbit, renal ultrasound, hearing evaluation, and Cardiology evaluation if a murmur is present. We prospectively evaluated patients with MAC to assess the incidence of Congenital Heart Disease (CHD) and other malformations, the association between the presence of CHD and a higer incidence of other malformations, and whether the guidelines for the evaluation of MAC need to be revised.
METHODS: Data was obtained from the Anophthalmia/Microphthalmia Registry at Albert Einstein Medical Center, Philadelphia which collects data about malformations associated with MAC. Sub-analysis was performed to evaluate if the presence of CHD could predict the presence of other malformations. Using SSPS 13.0 software, cross-tabulations with two-sided Chi-Square/Fisher’s Exact Test (FET) were performed to identify statistically significant differences.
RESULTS: Of 225 cases (110 males, 48.9%), 24 (10.7%) had CHD, an incidence significantly higher than the general population (<1%). The most common malformations were VSD (11 pts, 4.9%) and ASD (6 pts, 2.7%). Interestingly, if CHD was present, there was a significantly higher incidence of other malformations (compared with patients with MAC without CHD): Renal (16.7% vs 2.5%, FET 0.009), Genital (20.8% vs 4.5%, FET 0.009), Teeth (20.8% vs 7%, FET 0.037), Gastrointestinal (25% vs 5%, FET 0.003), Pulmonary (20.8% vs 3.5%, FET 0.004), Vertebral (20.8% vs 5%, FET 0.013), Cleft lip and palate (16.7% vs 4%, FET 0.028).
CONCLUSION: The incidence of CHD in patients with MAC is high, and it is associated with a significantly higher incidence of other malformations.
CLINICAL IMPLICATIONS: Our data suggests that all patients require a Cardiology evaluation, possibly including an echocardiogram. If CHD is present, then conditions associated with it should be evaluated early on, including X-rays of the chest and vertebrae.
DISCLOSURE: Diego Moguillansky, None.