Cardiac septal defects: Possible predictors of ocular comorbidities in Down syndrome children

Qais Dihan, MD, and colleagues reported that the observation of cardiac septal defects may be a risk stratification biomarker to guide ophthalmic screening in patients with Down syndrome.

Dihan shared his team’s results at the 51^st annual meeting of the American Association for Pediatric Ophthalmology and Strabismus in Boston, March 18-22. He is from the Harvey and Bernice Jones Eye Institute, Department of Ophthalmology, University of Arkansas for Medical Sciences (UAMS), Little Rock.

Down syndrome is known to be associated with congenital heart disease and ocular morbidities,^1,2 according to the investigators. In light of that, they conducted a retrospective population-based cohort study to determine if the presence of cardiac septal defects could serve as a biomarker to predict an increased risk of common pediatric ocular comorbidities in children with Down syndrome.

The study included 2 cohorts of patients, ie, 1 with Down syndrome and cardiac septal defects and the other with Down syndrome and no cardiac septal defects. Both groups were comprised of 15,045 patients. All patients were under 18 years of age.

The cardiac defects were atrial, ventricular, and atrioventricular septal defects.

The primary study endpoints were the development of nasolacrimal duct stenosis, amblyopia, horizontal or vertical strabismus, and astigmatism at the 2-, 5-, and 10-year timepoints.

What did the analyses of Down syndrome patients with cardiac septal defects show?

The investigators reported that the cumulative incidence rates of nasolacrimal duct stenosis, amblyopia, strabismus, and astigmatism were higher in patients with Down syndrome with cardiac septal defects compared with those with no cardiac septal defects.

The investigators reported the 10-year adjusted hazard ratios (aHR) of ocular comorbidities in patients with and without cardiac heart disease as follows:

• nasolacrimal duct stenosis: aHR 1.44 (95% confidence interval [CI], 1.29-1.62
• amblyopia: aHR 1.44 (95% CI, 1.31-1.57)
• strabismus: aHR 1.50 (95% CI, 1.39-1.63)
• astigmatism: aHR 1.63 (95% CI, 1.52-1.75)

Dihan and colleagues concluded, “Cardiac septal defects signal a higher risk ocular phenotype in children with Down syndrome, with a persistent 10-year increased risk across multiple visual comorbidities. Our findings reflect a shared susceptibility between cardiac and ocular developmental axes in children with Down syndrome.”

They believe that the presence of cardiac septal defects in these children may be a “practical risk-stratification marker to guide earlier and more frequent ophthalmic screening in this pediatric subpopulation.”

Dihan was joined in this study by Amber Alzufari, BS, from the College of Medicine, UAMS; Paul H. Phillips, MD, from the Department of Ophthalmology, Boston Children’s Hospital, Boston; and Abdelrahman M. Elhusseiny, MD, MSc, Harvey and Bernice Jones Eye Institute, Department of Ophthalmology, University of Arkansas for Medical Sciences; Department of Ophthalmology, Boston Children’s Hospital; and Bascom Palmer Eye Institute, Department of Ophthalmology, University of Miami Miller School of Medicine, Miami.

References

1. Dimopoulos K, Constantine A, Clift P, et al. Cardiovascular complications of Down syndrome: Scoping review and expert consensus. Circulation. 2023;147:425-41. do:10.1161/CIRCULATIONAHA 122.0597062.

2. Haseeb A, Huynh E, ElSheikh RH, et al. Down syndrome: a review of ocular manifestations. Ther Adv Ophthalmol. 2022.1425158414221101718. doi:10.1177/25158414221101718