Loeys-Dietz Syndrome is a genetic condition that affects connective tissue.

Connective tissue is found between other tissues in the body, such as skin, ligaments, blood vessels and internal organs, and they support and protect the body.

Loeys-Dietz Syndrome is caused by a gene mutation. 

Some patients with Loeys-Dietz Syndrome have obvious features, such as widely spaced eyes and malformation of the spine in the neck. Other symptoms include an enlarged aorta and aortic dissection.

Various tests including an echochardiogram, CT (computerised tomography) and MRI (magnetic resonance imaging) scans are used to diagnose Loeys-Dietz Syndrome. Genetic testing can also be carried out.

There is no cure for Loeys-Dietz Syndrome, but medical professionals can offer help to manage symptoms.

A paper was published in September 2020 confirming a link between patients with genetically confirmed Loeys-Dietz Syndrome and SCAD.

FAQs

Loeys-Dietz Syndrome is a genetic condition that affects connective tissue. It is caused by a genetic mutation.

Connective tissue is found between other tissues in the body, such as skin, ligaments, blood vessels and internal organs, and they support and protect the body.

Various tests including an echochardiogram, CT (computerised tomography) and MRI (magnetic resonance imaging) scans are used to diagnose Loeys-Dietz Syndrome. Genetic testing can also be carried out.

A paper was published in September 2020 confirming a link between patients with genetically confirmed Loeys-Dietz Syndrome and SCAD.

Read more about Loeys-Dietz Syndrome

There is no cure for Loeys-Dietz Syndrome, but medical professionals can offer help to manage symptoms.