动静脉畸形
医学
曲美替尼
血管畸形
内科学
放射科
激酶
MAPK/ERK通路
生物
遗传学
作者
Cynthia L. Nicholson,Siobhan Flanagan,Michael A. Murati,Christina Boull,E. McGough,Rebecca Ameduri,Brenda J. Weigel,Sheilagh Maguiness
摘要
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.
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