Chest
Clinical Investigations: Sleep and BreathingSleep Apnea in Marfan's Syndrome: Increased Upper Airway Collapsibility During Sleep
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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Cited by (50)
Respiratory manifestations of Marfan's syndrome
2015, Revue des Maladies RespiratoiresIncreased upper airway collapsibility in a mouse model of Marfan syndrome
2015, Respiratory Physiology and NeurobiologyCitation Excerpt :The results from this work shows that Pcrit in MFS is reduced independently of weight gain, which could be translated in a higher risk of collapsibility of the upper airway in MFS patients with substantially relatively low body mass index. This increase in collapsibility can explain the higher prevalence of sleep-disordered breathing described in patients with MFS with regard to the general population (Cistulli and Sullivan, 1995; Kohler et al., 2009). The prevalence of OSA in MFS patients has important clinical implications since OSA can worsen the cardiovascular problems inherent to MFS.
Connective Tissue Diseases
2015, Murray and Nadel's Textbook of Respiratory Medicine: Volume 1,2, Sixth EditionMarfan's syndrome: Clinical manifestations in the oral-craniofacial area, biophysiological roles of fibrillins and elastic extracellular microfibers, and disease control of the fibrillin gene
2013, Journal of Oral and Maxillofacial Surgery, Medicine, and PathologyProspective risk stratification of sudden cardiac death in Marfan's syndrome
2013, International Journal of CardiologyCitation Excerpt :Rybczynski et al. [23] recently found obstructive (OSA) and central (CSA) sleep apnea in 31% of all MFS patients. It is suggested that upper airway collapsibility, high nasal airway resistance, and craniofacial abnormalities are possible causal mechanisms of OSA in MFS [24–26]. It was also pointed out that sleep apnea was independently associated with decreased LVEF and increased NT-proBNP serum levels [23].
Frequency of Sleep Apnea in Adults With the Marfan Syndrome
2010, American Journal of CardiologyCitation Excerpt :Thus, we suggest screening patients with Marfan syndrome even when sleep apnea is not clinically suspected. Cistulli et al2,18,19 suggested upper airway collapsibility, high nasal airway resistance, and craniofacial abnormalities as causal mechanisms of OSA in Marfan syndrome, whereas Kohler et al3 did not find increased frequencies of retrognathia or abnormalities of mean neck circumference, cricomental distance, and Mallampati score in their patients. Kohler et al used ApneaLink type 4 devices (ResMed, MAP Medicine Technology, Martinsried, Germany), which permitted only flow limitations and snoring to be measured3 but which were therefore of limited use for distinguishing OSA from CSA.
Supported by a scholarship from the National Health and Medical Research Council of Australia (Dr. Cistulli).