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

Fahad A Alghaith; Heleen H Arts; Francois J Plourde; Andrew Boswall; Partima Gulati; P Daniel McNeely; Philip D Acott; Kenny K Wong; Sarah Dyack

doi:10.1002/ajmg.a.63023

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

Am J Med Genet A. 2023 Feb;191(2):554-558. doi: 10.1002/ajmg.a.63023. Epub 2022 Oct 29.

Authors

Fahad A Alghaith¹, Heleen H Arts¹, Francois J Plourde², Andrew Boswall³, Partima Gulati⁴, P Daniel McNeely⁵, Philip D Acott⁶, Kenny K Wong⁷, Sarah Dyack⁸

Affiliations

¹ Division of Clinical Genomics, Department of Pathology, Dalhousie University, Halifax, Nova Scotia, Canada.
² Division of Medical Genetics, Maritime Medical Genetics Service, IWK Health Centre, Nova Scotia, Canada.
³ Department of Ophthalmology and Visual Sciences, Dalhousie University, Halifax, Nova Scotia, Canada.
⁴ Division of Neurology, Department of Pediatrics and Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.
⁵ Division of Neurosurgery, Department of Surgery, Dalhousie University, Halifax, Nova Scotia, Canada.
⁶ Division of Nephrology, Department of Surgery, Dalhousie University, Halifax, Nova Scotia, Canada.
⁷ Division of Cardiology, Department of Pediatrics, Dalhousie University, Halifax, Nova Scotia, Canada.
⁸ Division of Medical Genetics, Department of Pediatrics and Medicine, Dalhousie University, Halifax, Nova Scotia, Canada.

PMID: 36308391
DOI: 10.1002/ajmg.a.63023

Abstract

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 PRKD1. Here, we describe a patient with a novel de novo variant of PRKD1 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.

Keywords: PRKD1 gene; congenital heart defect; congenital heart defect and ectodermal dysplasia; intracranial pressure.

Publication types

Review
Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Cleft Palate*
Ectodermal Dysplasia* / complications
Ectodermal Dysplasia* / diagnosis
Ectodermal Dysplasia* / genetics
Heart Defects, Congenital* / complications
Heart Defects, Congenital* / diagnosis
Heart Defects, Congenital* / genetics
Humans
Intracranial Pressure
Phenotype