Renal cystic disease in the Fbn1C1039G/+ Marfan mouse is associated with enhanced aortic aneurysm formation

Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in the fibrillin-1 gene (FBN1), resulting in aortic aneurysm formation and dissections. Interestingly, variable aortopathy is observed, even within MFS families with the same mutation. Thus additional risk factors determine disease severity. Here, we describe a case of a 2-month old Fbn1C1039G/+ MFS mouse with extreme aortic dilatation and increased vascular inflammation, when compared to MFS siblings, which coincided with unilateral renal cystic disease.

Source: Cardiovascular Pathology - October 16, 2018 Category: Cardiology Authors: Stijntje Hibender, Shaynah Wanga, Ingeborg van der Made, Mariska Vos, Barbara JM Mulder, Ron Balm, Carlie JM de Vries, Vivian de Waard Tags: Original Article Source Type: research