Barnabas Health Heart Center at Newark Beth Israel Medical Center offers
patients with Marfan syndrome and related aortopathies a dedicated program
for the diagnosis and treatment of their clinical condition. Services
are available at both Newark Beth Israel Medical Center in Newark and
the Barnabas Health Heart and Lung Specialty Center in Toms River.
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 Barnabas 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.
Learn more about
Patient and Family Resources