Loeys-Dietz syndrome

This is a lecture about the genetic disease Loeys-Dietz syndrome, designed for trainees and medical professionals. Lecture by Philip M. Boone, MD, PhD.
Acknowledgement: Gretchen MacCarrick, MS, CGC for editing the script.
References:
Loeys-Dietz Syndrome Foundation
www.loeysdietz.org/en/
Primer for diagnosis and management
www.nature.com/articles/gim20...
Differences between Loeys-Dietz, Marfan, and Ehlers-Danlos syndromes
• Differences in manifes...
Loeys-Dietz pathophysiology and research (by Dr. Dietz)
• Video
Loeys-Dietz clinical features
• Video
Loeys-Dietz syndrome clinical and research update (by Dr. Loeys)
• Dr Bart Loeys - Loeys-...
Cardiovascular surgery in Loeys-Dietz syndrome
• Cardiovascular surgery...

[@haldietz4414]

This is a very accurate and beautifully presented description of Loeys-Dietz syndrome. Thank you.

[@dianafotioskafantaris2247]

Thank you for all your work Dr. Dietz (and Dr. Loeys)! It has saved our lives!

[@moosestubbings1853]

I have LDS and had an aortic root replacement(valve sparing) on oct1,2009
they used my aorta to create a test for this disease
Im in a research program with the N.I.H. so that they can treat this disease in future generations.
My father died from an aortic dissection in november of 1985
at the age of 33
Intrestingly enough I tested positive for SMAD3
my entire family benefits from this research

[@JillEllenLloyd]

Thank you

[@luisa5004]

You can also have CCA and LDS

[@shank.m]

Thank you so much. Very informative

[@oliveralonsogiljacobo8153]

Te amo. Gracias

[@jenniferbrunner8850]

I realize this video is 2 years old, however, could you possibly explain the difference with the 5th gene?

[@chicchic4122]

Do you suggest the whole panel of genes need to be tested for an accurate diagnosis? The “ testing “company tested only for SMAD3 and supposedly found a variant. Now the doctor wants to put him on meds and his scans are normal! I am being skeptical.

[@angelanuzum6149]

Could you please elaborate on this...."the surgical threshold of how big you let the aorta get before operating on it, differs depending on the syndrome". I was hoping you could list the ranges for each of the syndromes, specifically loeys dietz. I have twins with this syndrome. Thanks

[@QuickMedicalGenetics]

It's best to talk with your children's doctors about this issue. Guidelines change over time and are always implemented with a patient's specific situation in mind. -Learn Medical Genetics

[@moosestubbings1853]

My aorta was 6.1 cm before my surgery in 2009
I had dr. Cameron do the surgery at johns hopkins hospital in balto.md hes the best.
Now I run 10miles everyday
he gave me back my heart function

[@moosestubbings1853]

You should get in touch with dr. Howard Levy's office in timmonium
hes a geneticist and aortic aneurysm specialist.
Most hospitals miss aortic aneurysms on cat scans

[@natashawhite-partridge8760]

My husband has this and we don't know what to do he will turn 27 on Nov 4th he is terrified and does not know what to do he had a 7.4 cm anurism and is scared everyday

[@brianfarquhar1287]

Generally, the surgical threshold for aortic root aneurysm is 4.0 cm for LDS. (I had my elective surgery last year at 5.2 cm) 7.4 cm is something that needs to be looked at quickly - Hopefully he is being followed up!

[@ruparkyitin]

Is there any relation of Ehlers-Danlos syndrome and Loeys-Dietz syndrome?

[@silience_]

Hi there, person with LDS3 here :). I realize your comment's a little old now, but it's a great question! So, vascular Ehlers-Danlos Syndrome (vEDS/EDS IV), the type of EDS that's similar to LDS, is actually a differential diagnosis of LDS; there's no direct relation, but there are a number of similarities between the two conditions.
So vEDS can also lead to dissections (even without an anyeurism) of the aorta and following blood vessels, however vEDS is caused by a mutation of the COL3A1 gene, whereas LDS can arise from any of the 6 potential culprits discussed in the video.
Hope this still helps!

[@koralinam9254]

I have LDS - TGFBR3 🫤