Marfan Syndrome and Aortopathy Center

The Marfan Syndrome and Aortopathy Center, founded in 1992, is one of the largest clinics in the United States dedicated to the care of adults with heritable thoracic aortic diseases (HTAD) and aortopathies, including Marfan syndrome, Loeys-Dietz syndrome, vascular Ehlers-Danlos syndrome, nonsyndromic HTADs, bicuspid aortic valve with aneurysm, Turner syndrome, aortic dissection, unexplained thoracic aortic aneurysm, and other arteriopathies. This clinic is recognized as a Center of Excellence and provides multidisciplinary care including cardiology and access to medical genetics, cardiothoracic surgery, vascular surgery, ophthalmology, orthopedic surgery, and maternal-fetal medicine/high-risk obstetrics.  Our cardiothoracic surgeons specialize in complex aortic surgery including valve-sparing root replacement, composite valve-graft surgery, repair of thoracic aortic aneurysms and dissections and mitral valve procedures.  Our vascular surgeons specialize in surgery on the aorta and branch vessels and endovascular procedures.

The Marfan Syndrome and Aortopathy Center provides comprehensive evaluation for initial consultation and continuity of care for long term management. Initial evaluation may include detailed cardiovascular and medical genetics assessment, echocardiogram, and ophthalmologic examination in a single visit, depending upon individual circumstances. Referrals to appropriate specialists may also be arranged. Cardiovascular imaging may include echocardiography, computerized tomographic (CT) angiography or magnetic resonance angiography (MRA). Our center has close ties to the Marfan Syndrome Clinic at St. Louis Children’s Hospital and may provide continuity of care for patients as they transition to adult care.

The Marfan Syndrome and Aortopathy Center at Washington University School of Medicine and Barnes-Jewish Hospital has hosted the Annual Meeting of the National Marfan Foundation on two occasions and is actively involved in research involving heritable thoracic aortic diseases and is part of multiple clinical registries.

The Center for Thoracic Aortic Disease, along with the Marfan syndrome Clinic, are multidisciplinary clinics providing evaluation and management of diseases which involve the thoracic aorta.

Many of these disorders have an underlying genetic basis, including:

• Marfan syndrome
• Loeys-Dietz syndrome
• Bicuspid aortic valve associated with ascending aortic aneurysm
• Vascular Ehlers-Danlos syndrome
• Nonsyndromic heritable thoracic aortic disease (HTAD) or familial thoracic aortic aneurysm and dissection disease (FTAA/D)
• Turner syndrome
• Aortic dissection
• Unexplained thoracic aortic aneurysm

Washington University School of Medicine and Barnes-Jewish Hospital have a longstanding history of excellence in the care of patients with Marfan syndrome and related aortopathy conditions. Individuals with these conditions as well as those with thoracic aortic aneurysm and aortic dissection may be evaluated by a group of experts to determine the underlying condition, screen for genetic mutations when appropriate, and determine medical and surgical therapy. Full-day evaluations including examinations by cardiology, medical genetics, ophthalmology, and an echocardiogram may be arranged as needed. Consultations with subspecialists including cardiac surgery, vascular surgery, orthopedic surgery, maternal-fetal medicine, and thoracic surgery may also be arranged as required.

Director

Nurse Coordinators

Clinical expertise

The Marfan Syndrome Clinic provides expertise in diagnosis and treatment of many genetically-triggered disorders associated with thoracic aortic aneurysm and dissection including:

• Marfan syndrome
• Loeys-Dietz syndrome
• Bicuspid aortic valve and ascending aortic aneurysm/aortopathy
• Familial thoracic aortic aneurysm and dissection syndrome
• Nonsyndromic heritable thoracic aortic disease (familial thoracic aortic aneurysm and dissection syndrome)
• Vascular Ehlers-Danlos syndrome
• Turner syndrome with aortic aneurysm disease
• Aortic dissection
• Thoracic aortic aneurysm
• Aortic disease in pregnancy and aortic dissection related to pregnancy
• Unexplained arterial dissections and aneurysms
• Evaluation and management of heritable thoracic aortic disease and genetically triggered aortic aneurysm syndromes including:
  • Marfan syndrome
  • Loeys-Dietz syndrome
  • Nonsyndromic heritable thoracic aortic disease (HTAD) or Familial thoracic aortic aneurysm and dissection diseases
  • Bicuspid aortic valve with ascending aortic aneurysm
  • Vascular Ehlers-Danlos syndrome
  • Turner syndrome with aortic disease
• One of the largest clinics in the country dedicated to the care of patients with Marfan syndrome and Aortopathy conditions
• Evaluation and management of individuals with aortic dissection
• Evaluation and management of individuals with thoracic aortic aneurysm
• Evaluation of the individual with a family history of thoracic aortic aneurysm and/or aortic dissection
• Multidisciplinary evaluation when appropriate including evaluation by:
  • Cardiology
  • Cardiothoracic surgery
  • Medical genetics and genetic counseling
  • Ophthalmology
  • Orthopedic surgery
  • High-risk obstetrics (maternal-fetal medicine)
  • Vascular surgery
  • Thoracic surgery
• Determination as to whether patients are candidates for open surgery or endovascular repair
• Experienced cardiothoracic and vascular surgery for management of thoracic aortic aneurysm and aortic dissection
• Valve-sparing aortic root replacement, composite aortic valve and root replacement, open thoracic surgery on descending aortic aneurysms, hybrid procedures, endovascular repair of thoracic aortic aneurysms, and for complications of aortic dissections
• Experience in valve-sparing aortic root replacement in Marfan syndrome and related aortopathy conditions
• Washington University School of Medicine and Barnes-Jewish Hospital have expertise in all aspects of imaging of the aorta and its branches in the evaluation and management of diseases of thoracic aorta and genetically triggered or heritable vascular and aortic disease.
• Long-term management of aortic aneurysm and dissection involves serial imaging studies utilizing MR angiography, CT angiography and echocardiography.

Clinical Affiliations

The Marfan Syndrome and Aortopathy Center is actively involved in registries and clinical and translational research involving heritable thoracic aortic disease including:

• Professional Advisory Board, The Marfan Foundation
• The Pediatric Heart Network Trial of Atenolol versus Losartan in the Treatment of Marfan Syndrome
• The National Marfan Foundation Registry of Valve-Sparing Aortic Root Replacement
• The International Registry of Acute Aortic Dissection (IRAD)
• The Montalcino Aortic Consortium (MAC)
• Pregnancy and other reproductive outcomes in women with genetic predisposition for aortic dissection (PROWAG)
• Collaborations with physicians at other institutions involving studies of Marfan syndrome, Loeys-Dietz syndrome, bicuspid aortic valve aortopathy and other heritable thoracic aortic disease and familial thoracic aortic aneurysm disease
• Cardiovascular Genetics
• Mallinckrodt Radiology Institute
• Genomics and Pathology Services
• The Marfan Foundation

Contact information

Referring Physicians: 314-362-1291
Patients: 314-362-1291 or 888-210-8375