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

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

Medicine

Résultat de recherche: Article › examen par les pairs

3 Citations (Scopus)

Résumé

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.

Langue d'origine	English
Journal	American Journal of Medical Genetics, Part A
DOI	https://doi.org/10.1002/ajmg.a.63023
Statut de publication	Accepted/In press - 2022

Note bibliographique

Funding Information:
We sincerely thank the patient and family for their participation in this study and for their consent to publish this case report. This work is supported by the Dalhousie University – Faculty of Medicine Webster Family Fund for Research.

Publisher Copyright:
© 2022 Wiley Periodicals LLC.

ASJC Scopus Subject Areas

Genetics
Genetics(clinical)

PubMed: MeSH publication types

Case Reports

Accès au document

10.1002/ajmg.a.63023

Autres fichiers et liens

Citer

Alghaith, F. A., Arts, H. H., Plourde, F. J., Boswall, A., Gulati, P., McNeely, P. D., Acott, P. D., Wong, K. K., & Dyack, S. (Accepter/ En production). Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature. American Journal of Medical Genetics, Part A. https://doi.org/10.1002/ajmg.a.63023

@article{6fc70175629d4087b2fef5c188f26691,

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

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 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.",

author = "Alghaith, {Fahad A.} and Arts, {Heleen H.} and Plourde, {Francois J.} and Andrew Boswall and Partima Gulati and McNeely, {P. Daniel} and Acott, {Philip D.} and Wong, {Kenny K.} and Sarah Dyack",

note = "Funding Information: We sincerely thank the patient and family for their participation in this study and for their consent to publish this case report. This work is supported by the Dalhousie University – Faculty of Medicine Webster Family Fund for Research. Publisher Copyright: {\textcopyright} 2022 Wiley Periodicals LLC.",

year = "2022",

doi = "10.1002/ajmg.a.63023",

language = "English",

journal = "American Journal of Medical Genetics, Part A",

issn = "1552-4825",

publisher = "Wiley-Liss Inc.",

}

TY - JOUR

T1 - Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED)

T2 - Extension of phenotype and review of literature

AU - Alghaith, Fahad A.

AU - Arts, Heleen H.

AU - Plourde, Francois J.

AU - Boswall, Andrew

AU - Gulati, Partima

AU - McNeely, P. Daniel

AU - Acott, Philip D.

AU - Wong, Kenny K.

AU - Dyack, Sarah

N1 - Funding Information: We sincerely thank the patient and family for their participation in this study and for their consent to publish this case report. This work is supported by the Dalhousie University – Faculty of Medicine Webster Family Fund for Research. Publisher Copyright: © 2022 Wiley Periodicals LLC.

PY - 2022

Y1 - 2022

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85141408331&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85141408331&partnerID=8YFLogxK

U2 - 10.1002/ajmg.a.63023

DO - 10.1002/ajmg.a.63023

M3 - Article

C2 - 36308391

AN - SCOPUS:85141408331

SN - 1552-4825

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

ER -

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

Résumé

Note bibliographique

ASJC Scopus Subject Areas

PubMed: MeSH publication types

Accès au document

Autres fichiers et liens

Empreinte numérique

Citer