%0 Case Reports
%T A case of capillary malformation-arteriovenous malformation and Ebstein's anomaly in a child with EphB4 mutation.
%A Sherwani Y
%A Jenkins S
%A Adelanwa A
%A Burch DM
%A Chaudhuri NR
%A Zinn Z
%J Pediatr Dermatol
%V 38
%N 5
%D Sep 2021
%M 34339071
%F 1.997
%R 10.1111/pde.14723
%X 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.