Shownotes Transcript
Dive into vascular Ehlers-Danlos syndrome. What is it? How does it present? Get clues to its diagnosis and learn more about collagen than you ever wanted to know.
- Intro 0:12
- In this episode 0:17
- Why vascular Ehlers-Danlos syndrome? 0:28
- Case study: Dr. Mories 2:20
- What can we learn about vascular Ehlers-Danlos syndrome? 05:02
- Collagen and elastin 05:57
- Collagen: horses and glue 07:07
- More about collagen 10:35
- Why is it a problem to miss a little bit of collagen? 14:14
- The problem in vascular Ehlers-Danlos syndrome 15:06
- The history of vascular EDS 15:41
- How is vascular Ehlers-Danlos syndrome diagnosed? 16:36
- A vascular Ehlers-Danlos syndrome diagnosis 22:33
- Mouse models 23:29
- Clinical and genetic features of vascular Ehlers-Danlos syndrome 24:39
- Question of vasculitis 25:55
- The skin: the most common symptom of vascular EDS 28:00
- Family history, de novo mutations and pregnancy 29:43
- Surgery or vascular intervention 31:39
- How do patients do in the long-term? 32:54
- Summary 34:00
- Preview of part 2 35:42
- Thanks 36:25
Disclosures: Brown reports no relevant financial disclosures.
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References:
Barabas AP. J Cardiovasc Surg (Torino). 1972;13(2):160-7.
Chow MJ, et al. Biophys J. 2014;doi:10.1016/j.bpj.2014.05.014.)
Liu X, et al. Proc Natl Acad Sci USA. 1997;doi:10.1073/pnas.94.5.1852.)
Mories A. Scott Med J. 1960;5:269-72.
Pepin M, et al. N Engl J Med. 2000;doi:10.1056/NEJM200003093421001).
Pepin MG, et al. Genet Med. 2014;doi:10.1038/gim.2014.72.)
Piez KA. Matrix Biol. 1997;doi:10.1016/s0945-053x(97)90037-8.)
Pope FM, et al. Proc Natl Acad Sci USA. 1975;doi:10.1073/pnas.72.4.1314.)
Wagenseil JE, et al. J Cardiovasc Transl Res. 2012;doi:10.1007/s12265-012-9349-8.)
Zilocchi M, et al. AJR Am J Roentgenol. 2007;doi:10.2214/AJR.07.2370.)