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Assessment of pleural pressure during sleep in Marfan syndrome
Mudiaga Sowho1, Jonathan Jun1, Francis Sgambati2
1Division of Pulmonary and Critical Care Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland.
Study Objectives:
Patients with Marfan syndrome (MFS) have a high risk for aortic aneurysms. They are also susceptible to sleep-disordered breathing that may expose them to highly negative intrathoracic pressures known to increase aortic transmural pressure, which may accelerate aortic dilatation. Our objective was to quantify overnight intrathoracic pressure changes during sleep in snoring patients with MFS and the therapeutic effect of continuous positive airway pressure (CPAP).
Methods:
We used a questionnaire to identify self-reported snoring patients with MFS. In these patients, we monitored intrathoracic pressure using esophageal pressure (Pes) during overnight baseline and CPAP sleep studies. We defined a peak-inspiratory Pes (Pespeak-insp) < - 5 cm H2O as greater than normal and examined the distribution of Pespeak-insp during baseline and CPAP studies.
Results:
In our sample of 23 snorers with MFS, we found that 70% of sleep breaths exhibited Pespeak-insp < -5 cm H2O, with apnea/hypopneass accounting for only 12%, suggesting prevalent stable flow-limited breathing and snoring. In a subset (n = 12) with Pes monitoring during a CPAP night, CPAP lowered the mean proportion of breaths with Pespeak-insp < -5 cm H2O from 83.7% ± 14.9% to 3.6% ± 3.0% (P < .001). In addition, contemporaneous aortic root diameter was associated with the mean Pespeak-insp during inspiratory flow-limited breathing and apneas/hypopneas (β = -0.05, r = .675, P = .033).
Conclusions:
The sleep state in MFS revealed prolonged exposure to exaggerated negative inspiratory Pes, which was reversible with CPAP. Since negative intrathoracic pressure can contribute to thoracic aortic stress and aortic dilatation, snoring may be a reversible risk factor for progression of aortic pathology in MFS.
Citation:
Sowho M, Jun J, Sgambati F, et al. Assessment of pleural pressure during sleep in Marfan syndrome. J Clin Sleep Med. 2022;18(6):1583-1592.
Insights
Patients with Marfan syndrome (MFS) experience high intrathoracic pressures during sleep due to snoring. Continuous positive airway pressure (CPAP) effectively reduces these pressures, potentially mitigating aortic aneurysm progression.
Area of Science:
- Cardiology
- Pulmonology
- Genetics
Background:
- Marfan syndrome (MFS) patients face elevated risks of aortic aneurysms and aortic dilatation.
- Sleep-disordered breathing in MFS can lead to extreme negative intrathoracic pressures, exacerbating aortic transmural pressure.
- Snoring is common in MFS and may contribute to aortic pathology progression.
Purpose of the Study:
- To quantify overnight intrathoracic pressure changes during sleep in snoring patients with Marfan syndrome.
- To evaluate the therapeutic effect of continuous positive airway pressure (CPAP) on these pressure changes.
Main Methods:
- Utilized questionnaires to identify MFS patients with self-reported snoring.
- Monitored intrathoracic pressure via esophageal pressure (Pes) during overnight baseline and CPAP sleep studies.
- Defined peak-inspiratory Pes (Pespeak-insp) < -5 cm H2O as abnormal and analyzed its distribution.
Main Results:
- 70% of sleep breaths in snoring MFS patients showed abnormal Pespeak-insp, primarily due to flow-limited breathing, not just apnea/hypopnea.
- CPAP significantly reduced the proportion of abnormal breaths from 83.7% to 3.6% (P < .001) in a subset of patients.
- Aortic root diameter was associated with mean Pespeak-insp during inspiratory efforts (β = -0.05, r = .675, P = .033).
Conclusions:
- MFS patients exhibit prolonged exposure to exaggerated negative inspiratory pressures during sleep.
- CPAP therapy effectively reverses these heightened negative intrathoracic pressures.
- Snoring-induced negative intrathoracic pressure may be a modifiable risk factor for aortic disease progression in MFS.
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