Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature

Congenital heart defect (CHD) is a birth defect that affects the structure of the heart. Although CHD is often multifactorial, it can also be inherited as part of a Mendelian disorder such as in congenital heart defect and ectodermal dysplasia (CHDED). This disorder is caused by de novo variants in PKRD1. Here, we describe a patient with a novel de novo variant of PKRD1 with phenotypic features consistent with CHDED. Previously unreported features were noted including high intracranial pressure (ICP), partial anomalous pulmonary venous return (PAPVR), and bifid uvula. We suggest that these features may be associated with CHDED.

Automated summary

Congenital heart defect is a birth defect that affects the heart's structure and can be caused by both genetic and multifactorial factors. This study describes a patient with phenotypic features consistent with congenital heart defect and ectodermal dysplasia, including previously unreported features such as high intracranial pressure, partial anomalous pulmonary venous return, and bifid uvula.