matters of heart







july 2015   
NEW TYPE OF LOEYS-DIETZ SYNDROME IDENTIFIED 

 

Emerging research has identified a new type of Loeys-Dietz syndrome: Loeys-Dietz syndrome Type 5, associated with mutations in transforming growth factor-β 3 ligand gene (TGFβ3). Type 5 is similar to Loeys-Dietz syndromes Types 1, 2, 3, and 4 in terms of significant cardiovascular involvement (including thoracic and abdominal aortic aneurysm and dissection) and mitral valve disease. Other features that overlap clinically with Loeys-Dietz, Shprintzen-Goldberg, and Marfan syndromes include cleft palate, bifid uvula, pectus deformities and scoliosis, cervical spine instability, and clubfoot deformity. Compared to the others, Type 5 tends not to have striking arterial tortuosity or early aortic dissection.

 

We have lots to learn about the natural history of individuals with LDS Type 5, but are excited to have new testing for those with LDS-like features where previous LDS testing has been negative. With new discoveries happening all the time, we hope these diagnoses help families get the imaging surveillance and medical care they need.

 

Individuals looking for genetic testing options should contact their geneticist. Clinical testing is available through Connective Tissue Gene Tests. With time, LDS Type 5 will likely be added to aneurysm panels. 

MEDICAL UPDATE
Retinal detachment: rare, but worth knowing about

Retinal detachment is a very rare complication of Loeys-Dietz. This is described in the medical guidelines, along with the more common occurrence of myopia (nearsightedness) and eye muscle disorders.

 

Three children with Loeys-Dietz syndrome seen at the Johns Hopkins Hospital have experienced retinal detachments in recent years. This represents just about 1-2% of all the people with Loeys-Dietz followed at Hopkins. We do not yet know if there are any LDS-specific predisposing features.

 

Though rare, it's still important to keep in mind that retinal detachment can happen. It should be on your list of potential medical emergencies. If you or your child have not seen an ophthalmologist in recent years, it may be a good idea to get a baseline evaluation and any needed follow-up.

 

Retinal detachment is yet one more issue we need to better understand, starting with data that can come from a Loeys-Dietz registry. For the time being, we will continue sharing whatever information we have that can help people with Loeys-Dietz better manage their healthcare. 

CONFERENCE 2016
Announcing the LDSF Resource Fair!

Have you or a family member been recently diagnosed with Loeys-Dietz syndrome?  Do you need to learn more about this rare condition?  Have you attended all the LDSF conferences and are looking to hear about new research studies?  If you answered "yes" to any of these questions, be sure to attend the 2016 LDSF Conference in Baltimore, Maryland, June 24-26.  There will be something for everyone!

 

Next year's conference will feature a Resource Fair on June 24th, 3:00-6:00pm. The Resource Fair will feature valuable information on topics relating to Loeys-Dietz syndrome and opportunities for you to engage with experts, including:

  • an ENT, endocrinologist, and dentist
  • representatives from the Kennedy Krieger Institute
  • representatives from the National Institute of Health
  • LDS genetic experts, Gretchen MacCarrick, and Libby Sparks

When making plans to attend the 2016 LDSF Conference, be sure to arrive in time to attend the June 24th Resource Fair.  You won't want to miss this opportunity!   

OPPORTUNITIES TO TAKE HEART

Mark your calendars: 
September 13, 2015"Let's Dance for Loeys-Dietz" in the New York area
More information coming soon!
WITH THANKS!


Thanks to the Kasten Family and everyone who supported Clays for Caslin, held in Hudson, Wisconsin, on June 20. 
The weather held out and about 100 people showed up, enjoying shooting and the silent auction, and altogether raising about $4,500. Thanks for taking heart!

 

If you are interested in fundraising, contact us at info@loeysdietz.org.

HELP US EVERYDAY
Still not signed up for AmazonSmile?

Signing up for AmazonSmile is easy. Simply go to smile.amazon.com and select the LDSF as the charitable organization to receive donations from eligible purchases. Amazon will remember your preference. You just need to remember to shop at smile.amazon.com (we suggest you bookmark it!). From then on, whenever you need anything from Amazon, just browse through AmazonSmile and Amazon will make a donation to the LDSF. Ta-da!



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