Reply to ocular pathology in congenital heart disease

Sir,

We read with interest the paper of Mansour et al¹ on ocular pathology in congenital heart disease.

In a recently published study,² we have focused our attention on the relationship between heart and ocular defects in Down's syndrome (DS) patients.

Our study based on 65 DS patients (aged between 1 month and 15 years old), followed up with an ophthalmological examination at birth and one each year, showed that in 17 cases (26%), congenital heart disease (CHD) and ocular anomalies (OA) were significantly associated (χ² test, P<0.01).

We also found a recurrent association between nystagmus (4/6) and congenital cataract (3/3) with atrial septal defects and between myopia and severe CHD (three with atrioventricular canal and two with Fallot tetralogy on six cases), suggesting a possible specific pattern of association.

Moreover, Bromham et al³ observed that in children with DS, heart defects were associated with both myopia and nystagmus and not with other ocular anomalies.

We have searched for possible association between ocular and heart anomalies in the Sicilian Registry of Congenital Malformations database and we found 15 cases of nonsyndromic congenital cataract. In five cases (30%; P=0.45), CHD was also reported (four with atrial septal defect and one with ventricular septal defect).

This second set of data confirms the hypothesis of a link between congenital cataract and atrial septal defects, even if this type of CHD is common and a causal relationship is difficult to assess with small sample size.

On the basis of these observations, it is possible to reinforce the hypothesis that susceptibility genes for specific CHD and OA may be contiguous or reciprocally influenced.

The study of large patient sample with specific recurrent associations may contribute in the search of possible candidate gene both for CHD and OA. On the other hand, the association between ocular and heart anomalies suggest that a multidisciplinary approach is needed and all CHD patients, syndromic and isolated, may be evaluated routinely by an ophthalmologist.