Marfan Syndrome

Marfan’s syndrome occurs as a result of a genetic mutation in the chromosome responsible for collagen cross-linking. Patients with Marfan’s Syndrome have a very typical appearance. They are tall and lanky with very long arm spans and long fingers. Abraham Lincoln was thought to have Marfan’s syndrome.

Patients typically have associated problems in addition to scoliosis. These include lens dislocation of the eye, widening of the aorta as it exits the heart, heart valve abnormalities, knock-knee deformities, foot abnormalities such as bunions, chest wall deformities, and kyphosis.

Patients with Marfan’s syndrome often have highly progressive curvatures that require surgical intervention. In order to address the potential of spinal imbalance due to laxity of ligaments (ligamentous laxity) that is present in these individuals, long fusions of the spine are required. Screening MRI evaluation of the spinal canal is done prior to surgery as patients may have a condition known as dural ectasia where the covering of the spinal cord and nerves is enlarged and widened and can erode into the bone of the spinal column, making spinal instrumentation during surgery more challenging. This is why an experienced Scoliosis surgeon is required to perform the operation. An important component of the treatment of patients with Marfan’s syndrome includes careful perioperative care, which focuses on maintaining blood pressure in an acceptable range so as not to jeopardize the condition of the aorta. Patients will require a preoperative echocardiogram, eye examination, and often genetic testing to confirm the diagnosis if not already done.

Patient Story 1

This is a 12-year-old girl with scoliosis secondary to Marfans syndrome. degree thoracolumbar idiopathic curvature. She had received prior surgery for high-grade spondylolisthesis (slipped vertebrae) at the base of her spine. Dr. Lonner performed combined anterior (front) and posterior (back) spinal fusion, which resulted in a 90% correction of her scoliosis. She has done very well since the operation over 10 years ago and has no complaints and no back pain. She recently stepped into the office to see Dr. Lonner and team to let us know that she is going to have a baby!

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Patient Story 2

This is a 14-year-old boy with Marfan’s Syndrome and progressive thoracic and lumbar scoliosis. Dr. Lonner performed combined anterior (front) and posterior (back) fusion to correct his scoliosis. His height increased a full two inches as a result of surgery and correction of the deformity.

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