Genetically Mediated Aortic Disease Clinic

The Genetically Mediated Aortic Disease (GMAD) Clinic, a unique program within Cardiac Partners at Cooper and Inspira, screens and treats patients suspected of having a genetic disorder of the aorta. Diseases of the aorta can be life-threatening, so it is important to receive an early diagnosis as well as treatment. The earlier some treatments are started, the better the outcomes may be.

Patients with the following genetic diseases can benefit from the GMAD Clinic:

  • Marfan syndrome
  • Bicuspid aortic valve aortopathy
  • Vascular Ehlers-Danlos syndrome
  • Other familial thoracic aortic aneurysm disorders

Signs and symptoms that you may have a genetically mediated aortic diseases include:

  • Tall, thin body with long limbs and long fingers
  • Breast bone deformity
  • Hypermobility of joints
  • Stretch marks on the skin, especially around arm pits, hips, and thighs
  • Scoliosis (abnormal curvature of the spine)
  • High-arched palate  
  • Near-sightedness
  • History of pneumothorax (collapsed lung)
  • Multiple hernias
  • Flat feet or other foot deformities
  • Family history of aortic aneurysm or aortic dissection at a young age

Patients with a confirmed diagnosis will receive coordinated testing and care from a multidisciplinary team including a lead cardiologist who specializes in these diseases, a physician assistant, a nurse practitioner, genetic counselor, and aortic surgeon.  The team coordinates testing, some of which needs to be done once, some annually or less frequently; helps coordinate care; and makes recommendations for follow-up with orthopedic surgeons, ophthalmologists, and other specialists as needed.

Patients can schedule an appointment, or be referred to the GMAD clinic by their primary care physician or cardiologist by calling 856.938.2052.