Chest
Volume 108, Issue 3, September 1995, Pages 631-635
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Clinical Investigations: Sleep and Breathing
Sleep Apnea in Marfan's Syndrome: Increased Upper Airway Collapsibility During Sleep

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Marfan's syndrome is a hereditary disorder characterized by a defect in connective tissue, resulting in tissue laxity. It is associated with a high prevalence of obstructive sleep apnea (OSA). The aim of this study was to determine whether excessive upper airway collapsibility during sleep is an important pathophysiologic factor predisposing these individuals to OSA. We measured upper airway closing pressures (UACP) during sleep in 12 patients with Marfan's syndrome and 6 age-, and height-, and weight-matched control subjects. Ten of the patients had OSA, defined as an apnea/hypopnea index >5. All patients with Marfan's syndrome, including the two patients without OSA, demonstrated increased upper airway collapsibility during sleep, with a mean UACP of −2.5 ± 0.5 cm H2O during slow-wave sleep (SWS). In contrast, only two control subjects demonstrated upper airway closure. However, this was at significantly higher suction pressures, with a mean UACP of −5.6 ± 0.4 cm H2O during SWS (p<0.005). These data suggest that patients with Marfan's syndrome have abnormally increased upper airway collapsibility during sleep. It is possible that this is related to the characteristic connective tissue defect of this disorder.

Section snippets

METHODS

We studied 12 patients with Marfan's syndrome (8 men, 4 women) who had previously undergone standard nocturnal polysomnography as part of a prevalence study.7 All of these patients had been randomly recruited from the Marfan clinic at our institution. Ten of the patients in this study were randomly recruited from the original cohort; the remaining two patients were specifically selected because they were the only nonsnoring, nonapneic patients. We compared them with six age-, height-, and

RESULTS

Anthropomorphic data are presented in Table 1. Patients had mean age of 34 ± 3 years, mean height of 183 ± 3 cm, and mean weight of 73 ± 4 kg. Control subjects were well matched for age, height, and weight. The control group consisted of five men and one woman, while the patient group consisted of eight men and four women. Ten of the 12 patients were previously shown to have mild to moderate OSA on standard polysomnography, with a mean AHI of 25 ± 4/h (range, 6 to 48), and mean minimum oxygen

DISCUSSION

In a previous study, we showed that 64% of randomly recruited patients with Marfan's syndrome (n=25) had OSA, with a mean AHI of 20 ± 3.7 These patients are quite different from the typical sleep apnea population—they are tall, thin, and young. Therefore, it is possible that different mechanisms are important in the pathogenesis of OSA in this group. Our data herein demonstrate that patients with Marfan's syndrome have significantly increased upper airway collapsibility during sleep compared

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    Supported by a scholarship from the National Health and Medical Research Council of Australia (Dr. Cistulli).

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