Chest
Volume 120, Issue 5, November 2001, Pages 1455-1460
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Clinical Investigations
SLEEP
Relationship Between Craniofacial Abnormalities and Sleep-Disordered Breathing in Marfan’s Syndrome

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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.

Section snippets

Patients

Fifteen consecutive adult patients (7 men and 8 women) with Marfan’s syndrome presenting for routine follow-up at a specialist Marfan’s syndrome clinic of a university teaching hospital were studied. All patients fulfilled the diagnostic criteria for Marfan’s syndrome.4 Informed consent was obtained from all patients, and the study was approved by the ethics committee of our institution.

Sleep Studies

All of the patients underwent standard nocturnal polysomnography testing, as previously described.6 Sleep

Results

All patients were white and had the typical clinical features of Marfan’s syndrome (ie, they were generally young, tall, and thin; Table 1). Men were significantly taller than women (188 ± 3 vs 175 ± 2 cm; p < 0.01) and had a greater neck circumference (37.0 ± 1.0 vs 34.0 ± 0.5 cm; p < 0.05). Thirteen of the 15 patients had OSA, which was defined as an AHI more than five episodes per hour. The severity of apnea in these patients was mild to moderate, with a mean AHI of 22 ± 15 episodes per hour

Discussion

This cephalometric study of patients with Marfan’s syndrome provides evidence that such patients have a high prevalence of craniofacial abnormalities. The finding of a relationship between indexes of apnea severity and various cephalometric measurements suggests that these structural abnormalities are likely to play a role in predisposing these individuals to OSA.

Various craniofacial abnormalities have been described in patients with Marfan’s syndrome, although the literature on this topic has

Acknowledgment

The authors gratefully acknowledge the assistance of the staff of the Sleep Disorders Center and Dr. Richmond Jeremy from the Marfan Clinic at Royal Prince Alfred Hospital. We thank Dr. Anthony Pistolese for his analysis of the cephalometric radiographs.

References (34)

  • RE Pyeritz

    The Marfan syndrome

    Am Fam Physician

    (1986)
  • RE Pyeritz

    The Marfan syndrome

    Annu Rev Med

    (2000)
  • JL Murdoch et al.

    Life expectancy and causes of death in the Marfan syndrome

    N Engl J Med

    (1972)
  • PA Cistulli et al.

    Sleep-disordered breathing in Marfan's syndrome

    Am Rev Respir Dis

    (1993)
  • RR Grunstein et al.

    Snoring and sleep apnoea in men: association with central obesity and hypertension

    Int J Obes

    (1993)
  • PA Cistulli et al.

    Influence of maxillary morphology on nasal airway resistance in Marfan's syndrome

    Acta Otolaryngol

    (2000)
  • PA Cistulli

    Craniofacial abnormalities in obstructive sleep apnoea: implications for treatment

    Respirology

    (1996)
  • Cited by (0)

    Supported by a National Health and Medical Research Council of Australia Scholarship and the Australian Lung Foundation/Sensormedics Fellowship in Sleep Disorders (PAC).

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