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 855.925.0631.