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Relationship Between Craniofacial Abnormalities and Sleep-Disordered Breathing in Marfan’s Syndrome^*

^* From the Sleep Disorders Center (Drs. Cistulli and Gotsopoulos), Department of Respiratory Medicine, St George Hospital, University of New South Wales, Sydney, Australia; and the Sleep Disorders Center (Dr. Sullivan), Royal Prince Alfred Hospital, University of Sydney, Australia.

Correspondence to: Peter A. Cistulli, MBBS, PhD, FCCP, Sleep Disorders Center, Department of Respiratory Medicine, St George Hospital, Gray St, Kogarah 2217, NSW, Australia; e-mail: p.cistulli{at}unsw.edu.au

Objectives: To examine the prevalence and nature of craniofacial abnormalities in patients with Marfan’s syndrome and to investigate the relationship between craniofacial abnormalities and obstructive sleep apnea (OSA) severity in these patients.

Design: Cross-sectional.

Setting: Marfan’s syndrome clinic in a tertiary teaching hospital.

Patients: Fifteen consecutive adult patients (7 men and 8 women; mean [± SD] age, 34.8 ± 13.2 years) who had Marfan’s syndrome.

Measurements and results: Apneic status was determined from standard overnight polysomnography testing. Measurements from standardized lateral cephalometric radiographs were compared to normative data. Thirteen patients had OSA, which was defined as an apnea/hypopnea index (AHI) of > 5 episodes per hour (mean AHI, 22 ± 15 episodes per hour). A high prevalence of craniofacial abnormalities was found with significant gender differences for some of the variables. Significant abnormalities for the entire group were bimaxillary retrusion, a reduced maxillary length, an increased total anterior face height, a long lower anterior face height, an obtuse gonial angle, a steep mandibular plane, a reduced posterior nasal airway height, a reduced posterior airway space, and an increased distance from the mandibular plane to the hyoid bone. Univariate analysis revealed significant correlations among the total anterior face height, the upper anterior and posterior face heights, the mandibular length, and AHI. There was a significant correlation between the rank of the number of cephalometric abnormalities per patient and AHI in those patients with OSA.

Conclusions: Craniofacial abnormalities are common in patients with Marfan’s syndrome. The relationship between some cephalometric parameters and apnea severity suggests a potential role of craniofacial structure in the pathogenesis of OSA in these patients.

Key Words: craniofacial abnormalities • Marfan’s syndrome • obstructive sleep apnea

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