Successful management of an arteriovenous malformation with trametinib in a patient with capillary‐malformation arteriovenous malformation syndrome and cardiac compromise
Cynthia L. Nicholson, Siobhan Flanagan, Michael A. Murati, Christina Boull, E. McGough, Rebecca Ameduri, Brenda J. Weigel, Sheilagh Maguiness
Abstract
Capillary malformation-arteriovenous malformation (CM-AVM) syndrome is an autosomal dominant condition characterized by multifocal, noncontiguous pink patches on the skin that often have a surrounding pale halo. In some cases, an association with a fast flow, arteriovenous malformation (AVM) can be identified. Here, we describe a case report of a 16-year-old woman with CM-AVM syndrome and significant cardiac compromise successfully treated with trametinib, a mitogen-activated protein kinase (MEK) inhibitor.
Topics & Concepts
Arteriovenous malformationMedicineTrametinibVascular malformationInternal medicineRadiologyKinaseMAPK/ERK pathwayBiologyGeneticsVascular Malformations and HemangiomasVascular Tumors and AngiosarcomasTuberous Sclerosis Complex Research