August 31, 2011
Diagnosing and Treating Atypical Arterial Pathologies of Aortic Arch Vessels: Dissection and Fibromuscular Dysplasia
Although rare, pathologies of the aortic arch vessels can result in devastating sequelae. This article will address two of these pathologies, fibromuscular dysplasia and arterial dissection, along with diagnosis and treatment options.
January 31, 2013
Shared associations of nonatherosclerotic, largevessel, cerebrovascular arteriopathies: considering intracranial aneurysms, cervical artery dissection, moyamoya disease and fibromuscular dysplasia
With ongoing advancements in noninvasive vascular imaging and high-throughput genomics, we have
the opportunity to reclassify the cerebrocervical disorders by these shared associations, rather than their
downstream events, and to better understand etiology, mechanism and preventive treatments going
forward.
April 13, 2014
Clinical and biochemical profiles suggest fibromuscular dysplasia is a systemic disease with altered TGF-
Fibromuscular dysplasia (FMD) is a rare, nonatherosclerotic arterial disease for which the molecular basis is unknown. We comprehensively studied 47 subjects with FMD, including physical examination, spine magnetic resonance imaging, bone densitometry, and brain magnetic resonance angiography. Inflammatory biomarkers in plasma and transforming growth factor (TGF- ) cytokines in patient-derived dermal fibroblasts were measured by ELISA. Arterial pathology other than medial fibrodysplasia with multifocal stenosis included cerebral aneurysm, found in 12.8% of subjects. Extra-arterial pathology included low bone density (P< 0.001); early onset degenerative spine disease (95.7%); increased incidence of Chiari I malformation (6.4%) and dural ectasia (42.6%); and physical examination findings of a mild connective tissue dysplasia (95.7%). Screening for mutations causing known genetically mediated arteriopathies was unrevealing. We found elevated plasma TGF- 1 (P 0.009), TGF- 2 (P 0.004) and additional inflammatory markers, and increased TGF- 1 (P 0.0009) and TGF- 2 (P 0.0001) secretion in dermal fibroblast cell lines from subjects with FMD compared to age- and gender-matched controls. Detailed phenotyping of patients with FMD allowed us to demonstrate that FMD is a systemic disease with alterations in common with the spectrum of genetic syndromes that involve altered TGF- signaling
and offers TGF- as a marker of FMD.
A Library of public domino FMD related reports and data
The following documents, reports and posters have been collected and will continue to be collected and updated, looking to provided FMD suffered and others with a single point of reference for as much FMD related documentation as possible.