Marfan Syndrome and Aortopathy New Jersey Clinic

Our team is comprised of experts in cardiac, vascular, genetic and ophthalmologic presentation of the disease. Through evaluation using state-of-the art diagnostic testing, including cardiac magnetic resonance imaging, and genetic screening when appropriate, we are able to develop an individualized treatment and management plan for each patient. If surgery is needed, patients have access to the RWJBarnabas Health Heart Centers’ experts in aortic surgery.

About Thoracic Aortic Aneurysms

Thoracic aortic aneurysms (TAAs) are a major health problem with potentially devastating consequences. By conservative estimates, more than one million people in the United States are affected by TAAs. While the majority of TAAs are atherosclerotic, in at least 20 percent of cases, a positive family history is seen implying genetic predisposition.

Several genetic conditions such as Marfan syndrome, Loeys-Dietz syndrome, Turner syndrome, Ehlers-Danlos syndrome and Aneurysm-osteoarthritis syndrome are associated with TAAs and aneurysms elsewhere in the arterial tree. Aortic aneurysms are also seen in several congenital conditions such as bicuspid aortic valve and Tetralogy of Fallot.

The Importance of Precise Diagnosis

The diagnosis of genetic conditions is often compounded by the fact that several of these conditions often have overlapping clinical features. For example, the clinical features of Loeys-Dietz may be indistinguishable from Marfan syndrome. Other clinical manifestations of Marfan syndrome such as ectopia lentis, aortic aneurysm formation and skeletal features may also be seen in ectopia lentis syndrome, bicuspid aortic valve and Shprintzen-Goldberg syndrome respectively. The importance of precise diagnosis cannot be overemphasized as the natural history of TAAs and the indication for intervention is significantly affected by the underlying condition.

Therefore, careful clinical phenotyping and appropriate genetic evaluation to establish a correct diagnosis is of paramount importance. This allows for early medical interventions and early prophylactic surgery that prevents aortic dissection and rupture and leads to improved health outcomes.

Patient and Family Resources

Patient Stories

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  • "I can honestly say I haven’t felt this good physically in over 15 years."

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