News
The Yale Vascular Malformations Program (VaMP) identifies a culprit gene mutation implicated in the pathogenesis of "hepatic hemangiomas".
The Yale New Haven Hospital Vascular Malformations Program (VaMP), via a collaborative multidisciplinary effort, has identified somatic mosaic gene mutations (GJA4 encoding connexin 37) implicated in the pathogenesis of so-called “HEPATIC HEMANGIOMAS” in adult patients. This discovery questions the validity of the very term “hemangioma” in this particular anatomic distribution; and renders – for the first time - objective scientific support to the radiographically and clinically suspected notion that these lesions actually represent VENOUS MALFORMATIOMS - an entity with a completely different natural history, hemodynamics, angioarchitectural profile, and ergo therapeutic susceptibility.
Source: Cutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation