Congenital Hereditary Endothelial Dystrophy with Valvular Heart Disease: A Case Report

Abstract

Background: Congenital hereditary endothelial dystrophy (CHED) is a rare disease of the corneal endothelium. It is a nonprogressive clouding of the corneal, presenting at birth in most cases or shortly after it. This disease is categorized as an autosomal recessive disorder, which manifests with diffuse corneal edema, Descemet membrane thickening, and lack of endothelial cells. The primary abnormality in CHED is a degeneration of endothelial cells during or after the fifth month of gestation. The literature review has shown that CHED can occur with progressive, postlingual sensorineural hearing loss in Harboyan syndrome; however, it is not associated with any systemic abnormality. Case report: Our study reports a case of CHED and valvular heart disease in a neonate. To the best of our knowledge, no research has been performed to investigate the relationship between CHED and valvular heart disease. In addition, the patient’s mother had vaginal discharge in the fifth month of gestation, which was, as stated in the previous studies, the period during which the abnormality occurs in CHED. The two aforementioned issues highlight the need for performing the present study. Conclusion: Occurrence of CHED and heart disease has not been reported, there is a need for more research into this subject.

Keywords

• congenital hereditary endothelial dystrophy
• corneal
• valvular heart disease