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Connective Tissue Disorders and Blood Vessel Complications
Connective tissue disorders are conditions that weaken the structural framework of the body. In these conditions, the integrity of the blood vessels is often weakened, including the strength and flexibility of the aorta — the great vessel that carries blood from the heart to the rest of the body.
Connective Tissue Disorders include:
- Marfan syndrome — a connective tissue disorder caused by abnormal production of the protein fibrillin. The disorder is often inherited and affects each individual patient in varying degrees.
- Elhers-Danlos syndrome — a connective tissue disorder caused by a defect in the synthesis of collagen.
- Loeys-Dietz syndrome — a connective tissue disorder caused by mutations in the genes for transforming growth factor beta.
In these conditions, the aortic wall is weakened and patients are prone to developing aortic aneurysm (dilation of aorta) and aortic dissection (tearing of aorta). Aortic dissection is a life-threatening condition and can be fatal if not detected and emergently treated.
These patients may also develop leaky or insufficient heart valves. The mitral valve commonly exhibits prolapse, in which the valve leaflets bow back into the left atrium. The aortic valve may become insufficient due to aneurysm formation of the ascending aorta.
Treatments for Connective Tissue Disorders and Blood Vessel Complications
Treatment of aortic aneurysm in patients with connective tissue disorders requires control of blood pressure and regular imaging with echocardiography or CT scanning to monitor for continued enlargement. Surgery should ideally be performed before there is excessive dilation or dissection. The following surgeries may be options for these patients.
Services and Programs
Service and programs at Intermountain Heart Institute that help patients with connective tissues disorders and blood vessel complications: