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.

  • Thoracic Aortic Aneurysm Repair

    Thoracic aortic aneurysm repair is an open-chest surgery that repairs a portion of the aorta, the main blood vessel that carries blood from your heart to your brain and vital organs.

  • Thoracic Endovascular Aortic Repair (TEVAR)

    TEVAR is a less invasive surgery that uses a stent to repair a portion of the aorta, the main blood vessel that carries blood from your heart to your vital organs.

  • Freestyle Aortic Root Replacement

    Freestyle aortic root replacement is a highly specialized operation that replaces the aortic root (the portion of the aorta closest to the heart) and the aortic valve in a single operation.

  • Aortic Valve Repair and Replacement

    Many patients require open heart surgery to treat aortic stenosis. A cardiovascular surgeon removes the diseased valve and replaces it with either a mechanical or tissue valve.


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