The cervical spine in Marfan syndrome

Prospective radiographic and clinical analysis of a consecutive unselected population of persons with Marfan Syndrome.

To determine cervical spine abnormalities present in the Marfan population compared with that seen in the general population.

In the treatment of a large population of patients with Marfan Syndrome, three serious cervical spine disorders were noted. To the authors' knowledge, no report of cervical abnormalities in patients with Marfan Syndrome exists in the literature. Therefore, the cervical spine in these patients was studied in a systematic fashion.

An unselected group of 104 consecutive patients with Marfan Syndrome seen at a medical genetics follow-up examination underwent lateral neutral and flexion-extension cervical spine radiographs. Parameters of alignment, size, and stability were measured. Patients with Marfan Syndrome aged 35-45 years and matched controls were given a pain questionnaire to complete.

The prevalence of focal kyphosis was 16%. A large number of patients with Marfan Syndrome (54%) had increased atlantoaxial translation. The preadolescent Marfan population has a greater range of motion than either the adolescent or adult populations. The Marfan population has an increased radiographic prevalence of basilar impression (36%), and the odontoid height (3.69 +/- 0.53 cm) was larger than reported norms (2.34 +/- 0.22 cm). Cervical stenosis was rare, with 3% having a critical Torg ratio at C3 and 2% having a critical Torg ratio at C6. Neck pain frequency did not differ significantly from that of age-matched controls.

Based on the increased prevalence of several cervical bony and ligamentous abnormalities, patients with Marfan Syndrome were recommended to avoid sports with risks of high-impact loading of the cervical spine. Given the rarity of actual neurologic injuries in the Marfan population, however, radiographs for all patients with Marfan Syndrome undergoing general anesthesia is not recommended.