{Reference Type}: Case Reports
{Title}: A case of capillary malformation-arteriovenous malformation and Ebstein's anomaly in a child with EphB4 mutation.
{Author}: Sherwani Y;Jenkins S;Adelanwa A;Burch DM;Chaudhuri NR;Zinn Z;
{Journal}: Pediatr Dermatol
{Volume}: 38
{Issue}: 5
{Year}: Sep 2021
{Factor}: 1.997
{DOI}: 10.1111/pde.14723
{Abstract}: 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.