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)
- 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