A case of capillary malformation-arteriovenous malformation and Ebstein's anomaly in a child with EphB4 mutation.

Autor: Sherwani Y; West Virginia University School of Medicine, Morgantown, WV, USA., Jenkins S; West Virginia University School of Medicine Department of Dermatology, Morgantown, WV, USA., Adelanwa A; West Virginia School of Medicine Department of Pathology, Morgantown, WV, USA., Burch DM; West Virginia School of Medicine Department of Pathology, Morgantown, WV, USA., Chaudhuri NR; West Virginia University School of Medicine Department of Pediatrics, Morgantown, WV, USA., Zinn Z; West Virginia University School of Medicine Department of Dermatology, Morgantown, WV, USA.
Jazyk: angličtina
Zdroj: Pediatric dermatology [Pediatr Dermatol] 2021 Sep; Vol. 38 (5), pp. 1305-1307. Date of Electronic Publication: 2021 Aug 02.
DOI: 10.1111/pde.14723
Abstrakt: Capillary malformation-arteriovenous malformation (CM-AVM) is a rare condition characterized by multiple cutaneous capillary malformations with potential associated arteriovenous malformations. RAS p21 protein activator 1 (RASA1) and ephrin type-B receptor 4 (EPHB4) genes are implicated. We present a child with CM-AVM, due to EPHB4 mutation, and Ebstein's anomaly. Although EPHB4 is a known effector of vascular remodeling, its contribution to cardiogenesis is still being explored. Further research is needed to determine causality of Ebstein's anomaly in the setting of CM-AVM due to EPHB4 mutation.
(© 2021 Wiley Periodicals LLC.)
Databáze: MEDLINE
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