Genetic Aortic Disorders Clinic 

About the Genetic Aortic Disorders Clinic

We have a specialized clinic for cardiovascular conditions associated with aortic dilation, aortic aneurysm, and aortic dissection that may be genetic. In our clinic, patients receive comprehensive clinical evaluation and genetic testing of patients and family members when necessary. We offer the most up to date management of aortic disease, including medical therapy and surgical recommendations and referral when indicated. We partner with cardiovascular surgery, ophthalmology, orthopedics, neurosurgery, pulmonology, neurodevelopment, and other specialists as needed. Our center is involved with many local, national, and international research studies regarding aortic disease.

Condition we evaluate and treat:

  • Marfan syndrome
  • Loeys-Dietz-syndrome
  • Turner syndrome
  • Vascular Ehlers-Danlos syndrome (EDS type IV)
  • Arterial tortuosity syndrome
  • Aortic aneurysm
  • Aortic root dilation
  • Ascending aortic dilation
  • Familial thoracic aortic aneurysm and dissection
  • Bicuspid aortic valve with aortic dilation
  • Arterial tortuosity of unknown etiology
  • Fibrillin1 (FBN1) mutations
  • Transforming growth factor receptor (TGFBR1 and TGFBR2) mutations
  • TGFB2 mutations
  • TGFB3 mutations
  • ACTA2 mutations
  • SMAD3 and SMAD4 mutations
  • SLC2A10 mutations
  • PRKG1 mutations
  • COL3A1 mutations
  • Filamin A (FLNA) mutations
  • Fibulin 4 (FBNL4/ EFEMP2) mutations