Loeys-Dietz syndrome is an autosomal dominant genetic condition which shares some features with Marfan syndrome. However, this disease is associated with a much more aggressive course, with aneurysms and dissections occurring in blood vessels at a relatively small size and at a young age in some individuals. The features of this condition can include:

  • Abnormal shape of the head (craniosynostosis)

  • Wide-set eyes (hypertelorism)

  • Split uvula

  • Cleft palate

  • Curly (tortuous) blood vessels

  • Chest wall deformities (pectus deformities)

  • Scoliosis

  • Club feet

  • Soft and velvety skin

  • Thin skin with easily visible veins

  • Bluish eye whites (sclera)

It is important to make the diagnosis of Loeys-Dietz syndrome as surgery may be required on relatively small aortic blood vessels. Our center has expertise in the evaluation and management of this condition, including valve-sparing aortic root replacement surgery.

Our Marfan Syndrome Clinic has expertise in the multidisciplinary evaluation of patients with Marfan syndrome, Loeys-Dietz syndrome, familial thoracic aortic aneurysm and dissection syndrome, unexplained aortic dissection, vascular Ehlers-Danlos syndrome and other related disorders.

To make an appointment with a Washington University heart or vascular specialist at Barnes-Jewish Hospital, call [Dynamic_Phone_Number].

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