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Sleep-disordered breathing in Marfan's syndrome

P A Cistulli1, C E Sullivan

  • 1Sleep Disorders Centre, Royal Prince Alfred Hospital, New South Wales, Australia.

The American Review of Respiratory Disease
|March 1, 1993
PubMed
Summary

Patients with Marfan syndrome have a high prevalence of sleep-disordered breathing, including obstructive sleep apnea (OSA). Healthcare providers should screen all Marfan syndrome patients for OSA symptoms.

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Area of Science:

  • Cardiology
  • Pulmonology
  • Genetics

Background:

  • Marfan syndrome is a genetic connective tissue disorder with diverse clinical manifestations.
  • Sleep-disordered breathing (SDB) and obstructive sleep apnea (OSA) have been anecdotally observed in Marfan syndrome patients.
  • The prevalence of SDB in this population remains understudied.

Purpose of the Study:

  • To investigate the prevalence of sleep-disordered breathing (SDB) in patients diagnosed with Marfan syndrome.
  • To compare SDB prevalence in Marfan syndrome patients versus age-, height-, and weight-matched controls.

Main Methods:

  • A cohort of 25 patients meeting Marfan syndrome diagnostic criteria were studied.
  • 21 patients were randomly recruited and compared to 12 matched control subjects.
  • Nocturnal polysomnography was used to assess sleep parameters, including the apnea/hypopnea index (AHI).

Main Results:

  • 64% of Marfan syndrome patients (16/25) exhibited an AHI > 5, indicative of SDB.
  • The mean AHI in patients was significantly higher (20 +/- 3) than in controls (2 +/- 1, p=0.0005).
  • Obstructive apneas and hypopneas were the primary type observed; 64% reported snoring and 84% daytime hypersomnolence.

Conclusions:

  • There is a high prevalence of sleep-disordered breathing in patients with Marfan syndrome.
  • Symptoms and signs suggestive of obstructive sleep apnea (OSA) should be actively sought in all patients with Marfan syndrome.
  • This finding highlights the importance of respiratory monitoring in Marfan syndrome management.

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