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Conditions We Treat

Marfan Syndrome

Marfan Syndrome is a disorder involving the body's connective tissue. A defective FBN1 gene associated with Marfan syndrome affects the formation of a connective tissue protein called fibrillin, which impacts many organs and structures in the body.

Learn more by visiting the Marfan Foundation >

Loeys-Dietz Syndrome

Loeys-Dietz Syndrome is a connective tissue disorder caused by a genetic mutation in one of five genes that play roles in the transforming growth factor beta (TGF-β) cell signaling pathway. Many organ systems are affected by the syndrome, including cardiovascular system abnormalities of the heart and blood vessels.

Learn more by visiting the Loeys-Dietz Syndrome Foundation >

Williams Syndrome

Williams Syndrome is a genetic condition that affects many parts of the body. The blood vessels are often significantly narrowed, which places strain on the heart. The condition is caused by a deletion of genetic material from chromosome 7.

Learn more by visiting the Williams Syndrome Association >

Vascular Ehlers-Danlos Syndrome

Ehlers-Danlos Syndrome is a group of connective tissue disorders that all involve a genetic defect in the structure or processing of collagen. Ehlers-Danlos Syndrome can affect skin, joints, blood vessels, organs and other tissues.

Learn more by visiting the Ehlers-Danlos Society >

Familial Thoracic Aortic Aneurysm and Dissection Syndrome

Familial Thoracic Aortic Aneurysm and Dissection Syndrome affects the aorta, the large blood vessel that distributes blood from the heart to the rest of the body. In Familial TAAD, the aorta can be weakened or stretched, increasing the risk of developing a life-threatening tear in the aorta.

Learn more by visiting the Thoracic Aortic Disease Coalition >

Arterial Tortuosity Syndrome

Arterial Tortuosity Syndrome is a genetic disorder caused by mutations in the SLC2A10 gene, which provides instructions for making the protein GLUT10. The syndrome includes blood vessel abnormalities that can result in blockage of blood flow to vital organs such as the heart, lungs or brain.

Non-Syndromic Supravalvular Aortic Stenosis/Elastin Arteriopathy Syndrome

Non-syndromic Supravalvular Aortic Stenosis/Elastin Arteriopathy Syndrome is a genetic disorder involving abnormal elastin. The abnormal elastin results in significant narrowing of the blood vessels and places strain on the heart.

7q11.23 Duplication Syndrome

7q11.23 Duplication Syndrome is a condition caused by an extra copy of an area on the long (q) arm of chromosome 7. 7q11.23 Duplication Syndrome can result in aortic dilation, dissection, or rupture; neurologic abnormalities; behavioral problems (anxiety, autism, ADHD, aggression); and intellectual disabilities.