Genetic Clinics

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Dr. Pomianowski listens to a patient's heart.

Marfan and Aortopathy Clinic

The Marfan and Aortopathy Clinic specializes in evaluating and managing Marfan syndrome and related familial thoracic aortic aneurysm and dissection (TAAD) conditions. These include Loeys-Dietz syndrome and others. These genetic disorders can affect the heart, blood vessels and other body systems, making early diagnosis and individualized care essential for long-term health and well-being.

  • Marfan Syndrome: A connective tissue disorder, Marfan syndrome can lead to aortic enlargement (aneurysm), increasing the risk of dissection (tear in the inner layer of the aorta) if untreated. Marfan features can include tall stature, long limbs, flexible joints, vision problems, and skeletal abnormalities like a sunken chest or scoliosis. Management often includes regular cardiovascular monitoring, medications to reduce aortic stress and sometimes surgical intervention to prevent complications.
  • Loeys-Dietz Syndrome and other TAAD Conditions: These conditions are also marked by aortic aneurysm and dissection risk but may include additional features such as craniofacial abnormalities, joint laxity and abnormal arterial twisting. Treatment includes medications, lifestyle changes and proactive surgical planning based on aortic measurements.

With genetic testing, our team can personalize your care and assess any risks for your relatives. If you have a genetic mutation that causes Marfan or TAAD, you and your doctor will receive personalized genetics recommendations for medical management, lifestyle modifications and family screening.