Factsheets

There are multiple genetic mutations that cause Heritable Thoracic Aortic Disease (HTAD). A patient with Heritable Thoracic Aortic Disease is at higher risk for an enlarged aorta compared to the general population. A main challenge is that all of these conditions are rare, and even though these conditions are present from birth, the diagnosis is often missed until later in life.

CLARITY has performed preliminary research that shows that the aortic size at which surgery is optimal is affected by multiple factors. One of the most critical decision points for patients with HTAD is when to perform the aortic surgery to repair the part of the aorta that is enlarged. The decision is complex.

How the current medical recommendations perform is unknown when used for the treatment of younger patients. Research is vital to understand when surgery is needed in children and young adults with HTAD to optimize their outcomes and minimize risks.

The purpose of our project is to support a collaboration of hospitals across the United States and Canada with specialty centers for children and young adults with HTAD, that will work together to better understand how to optimize outcomes in these patients.

HTAD Factsheets:

• • • Loeys-Dietz syndrome

Coming Soon

• • • Marfan syndrome
    • vascular Ehlers-Danlos syndrome
    • Periventricular nodular heterotopia 1
    • FLNA-related aortic disease
    • Arterial tortuosity syndrome
    • Familial thoracic aortic aneurysm and dissection 6/ multisystemic smooth muscle dysfunction syndrome
    • Shprintzen-Goldberg syndrome