There is still much to learn about Loeys-Dietz Syndrome. We hope that you find these articles, fact sheets, and links as a place to start and helpful in your LDS journey.
Explore hundreds more free resources in The Marfan Foundation’s Resource Library.
Medical Resources
DownloadABLE PDFs
Glossary of Terms
The medical terminology associated with a condition such as Loeys-Dietz syndrome can be confusing and overwhelming. The LDSF had developed a glossary to help define terms you may come across in your LDS journey.
School Packet
As a parent of an LDS child, knowing how to communicate with your child's school can be challenging. Find a sample letter, emergency information and school-specific facts in this PDF packet to help open the lines of communication between you and your child's educational institution.
Tracking Tools for Echocardiogram and Vascular Imaging Data
We hope these tools will help patients track the timing of and pertinent data from their cardiovascular imaging, including echocardiograms, MRAs, and CTAs. We believe it is important for patients to be empowered and partners in their healthcare. You and your physicians should fill out this information together to help track aortic and arterial dimensions that show aneurysmal disease or dissections. Tracking data over time can help document stability or growth of vasculature and ensure timeliness of appropriate imaging.
FIND A DOCTOR
A coordinated clinic is the best place to go for Marfan syndrome and related conditions care. A coordinated clinic provides expertise in all Marfan-related specialties: genetics, cardiology (heart), ophthalmology (eyes), and orthopedics (bones and joints).
Healthcare Insurance and Disability
It is critical for people with a chronic condition, such as LDS to have appropriate health insurance. That’s why we encourage you to learn about health insurance, know your rights, and educate yourself about your diagnosis.
Medical Guidelines
On February 27, 2014, in the online publication of Genetics in Medicine, Loeys-Dietz syndrome: a primer for diagnosis and medical management was published and authored by Gretchen MacCarrick and members of the LDSF Medical Advisory Council.
Presentations
View video presentations by medical professionals or those impacted by LDS.
The LDS Journey – In 2011, some of our families gathered to talk about their journey with LDS and to film a short video about their experiences and the hope they have. A special thanks to Alex at Fifth and Main Productions for his time and talents in making this video.
Please check out the LDSF YouTube page to view presentations from LDS specialists at past conferences.
New guidelines for the diagnosis and management of aortic disease were published on November 2, 2022 in the Journal of the American College of Cardiology and Circulation. These guidelines, which were created by a team of medical experts on behalf of the American College of Cardiology and American Heart Association, provide recommendations on the diagnosis, evaluation, medical therapy, endovascular and surgical intervention, and long-term surveillance of people with aortic disease based on evidence available in the literature and, in some instances, based on expert consensus opinions. They include specific recommendations for those with syndromic and non-syndromic genetic aortic conditions as well as other types of acute aortic syndromes. They also emphasize the role of shared decision-making.
The guidelines provide support for:
Seeking surgical treatment from high volume centers with experienced surgeons as part of a multi-disciplinary team for asymptomatic patients with extensive aortic disease, those who might benefit from complex open and endovascular repairs, and those with multiple co-morbidities.
Genetic testing for people with syndromic features, family history of thoracic aortic disease, or early onset of disease (under the age of 60).
Thoracic aortic imaging of family members of affected individuals to screen for asymptomatic thoracic aortic disease in specific cases.
Open surgery is recommended over thoracic endovascular aortic repair in patients with Marfan, Loeys-Dietz, and VEDS who have a descending thoracic aortic aneurysm that meets criteria for intervention and have suitable anatomy.
Specific recommendations for Loeys-Dietz syndrome include:
Treatment with beta-blocker or angiotensin receptor blocker in maximally tolerated doses.
Surgery for the prophylactic repair of the aortic root and ascending aorta should be based on the specific genetic variant, aortic diameter, aortic growth rate, extra-aortic features, family history, patient age and sex, and physician and patient preferences.
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Emergency Alert Card
The First Source of Information for First Responders.
We hope this tool will help patients/families to always have on hand a source of information regarding Loeys-Dietz syndrome, as well as their personal medical information. If that information is used by first responders in an emergency, or just as a quick reference at a doctor's appointment; we think this could be a very valuable addition to your wallet, purse, or pocket.
Emergency Alert Card (Fillable PDF) - US/Canada (Dial 911 Version)
Emergency Alert Card (a fillable PDF) - International (Adds field to enter custom national emergency number)
We recommend Adobe Acrobat for filling out and printing this card. You can download that software for free here.
If you have any questions about this resource, feel free to contact us at info@loeysdietz.org
