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Query: UMLS:C0037315 (sleep apnea)
 8,000 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Referrals to pulmonary physicians for polysomnography to evaluate snoring or the possibility of sleep apnea syndrome often evolve into a multidisciplinary clinical problem. We present a young woman with two congenital abnormalities (Marfan's syndrome and retrognathism) which both may affect her decreased exercise tolerance, daytime hypersomnolence, and fatigue. Polysomnography and pulmonary exercise testing documented improvement in her upper airway diameter and exercise capacity. Her improved sleep pattern and her understanding of her exercise performance limitations afforded her a new outlook on life.
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PMID:Pulmonary dysfunction secondary to mandibular retrognathia in Marfan's syndrome. 818 76

High nasal airway resistance (NAR) has been reported in Marfan's syndrome, and this appears to contribute to the development of obstructive sleep apnoea in these patients. The cause of high NAR in Marfan's syndrome is unknown, but these patients characteristically have a narrow maxilla, which could have an influence on nasal dimensions. The aim of this study was to define the mechanism(s) mediating high NAR in Marfan's syndrome. Five patients with Marfan's syndrome (mean age 29+/-4 (SEM) years) were compared with an equivalent number of normal control subjects (31+/-1 years). NAR was measured by posterior rhinomanometry, before and after topical decongestant, nasal stenting, or both. Dental impressions were taken to evaluate maxillary arch morphology, allowing measurement of the following lateral distances: inter-canine (ICD), inter-premolar (IPD), and inter-molar (IMD). NAR (at a flow of 500 ccm/s) was considerably higher in patients compared with controls at baseline (0.93+/-0.08 vs 0.35+/-0.08 Pa/ccm/s, p < 0.001), and following decongestant and/or stenting. The maxillary arch was considerably narrower in patients. There were strong inverse correlations between the lateral maxillary dimensions and NAR after nasal decongestant, with or without stenting. These results indicate a strong association between maxillary width and NAR, and suggest that maxillary constriction is the dominant mechanism for the high NAR in Marfan's syndrome. The therapeutic implications of this finding warrant further investigation.
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PMID:Influence of maxillary morphology on nasal airway resistance in Marfan's syndrome. 1089 18

Sleep complaints are frequently reported by patients with Marfan and Ehlers-Danlos syndrome (EDS). We examined the exact nature of sleep complaints in these patients. A representative sample of Marfan and EDS patients responded to a general sleep questionnaire, including the Epworth Sleepiness Scale (ESS) and the Medical Outcomes Study Short-Form 36 (SF-36) health-related quality of life (QOL) questionnaire. Fifteen Marfan patients and 9 EDS patients were evaluated and compared to 24 healthy controls, matched for age, sex and body mass index. Maintaining sleep was frequently disturbed in Marfan (40%, p < 0.04) as well as in EDS patients (56%, p < 0.01). Sleep apnea was exclusively reported by Marfan patients (27%, p = 0.03). Periodic limb movements were much more reported in EDS (67%, p = 0.02) than in Marfan (27%, p = 0.25) compared to controls (8%). Pain and back complaints were highly presented in both groups, but most pronounced in EDS patients (47% in Marfan versus 77% in EDS). No differences for the scores in the ESS were found. For all SF-36 questionnaire items, scores were much lower in patient groups, except for emotional problems. We found that sleep complaints were not rare in Marfan and EDS patients and correlated well with different QOL items. Our study calls for greater attention to the presence of apnea, pain and periodic limb movements in these patients.
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PMID:Evaluation for sleep apnea in patients with Ehlers-Danlos syndrome and Marfan: a questionnaire study. 1190 37

Obstructive and central sleep apneas are treatable disorders, which contribute to cardiovascular morbidity in older adults. Younger adults with Marfan syndrome may also be at risk for sleep apnea, but the relation between cardiovascular complications and sleep apnea is unknown. We used MiniScreen8 portable monitoring devices for polygraphy in 68 consecutive adults with Marfan syndrome (33 men, 35 women, 41 +/- 14 years old) to investigate frequency of sleep apnea and its relation to cardiovascular morbidity. The apnea-hypopnea index (AHI) was 6 to 15/hour in 14 subjects (mild sleep apnea, 21%), and AHI was >15/hour in 7 subjects (moderate or severe sleep apnea, 10%). Among established risk factors for sleep apnea, only older age (Spearman rho = 0.35, p = 0.004) and body mass index (rho = 0.26, p = 0.03) were associated with increased AHI. Of all cases of apnea, 12 +/- 27 were obstructive, 11 +/- 25 central, and 3 +/- 9 mixed. AHI was associated with decreased left ventricular ejection fraction (rho = -0.33, p = 0.01), increased N-terminal pro-brain natriuretic peptide levels (rho = 0.35, p = 0.004), enlarged descending aortic diameters (rho = 0.44, p = 0.001), atrial fibrillation (phi = 0.43, p = 0.002), and mitral valve surgery (phi = 0.34, p = 0.02). Of these, left ventricular ejection fraction, N-terminal pro-brain natriuretic peptide levels, atrial fibrillation, and mitral valve surgery were associated with AHI independently of age and body mass index. We found similar associations with oxygen desaturation index. In conclusion, sleep apnea exhibits increased frequency in Marfan syndrome and is not predicted by classic risk factors. Obstructive and central sleep apneas may relate to cardiovascular disease variables.
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PMID:Frequency of sleep apnea in adults with the Marfan syndrome. 2053 40

Loeys-Dietz syndrome is a recently recognized connective tissue disorder characterized by severe craniofacial and skeletal abnormalities as well as arterial tortuosity with aggressive aneurysm formation. Marfan syndrome, a classic connective tissue disorder, is known to be associated with a risk of obstructive sleep apnea, but sleep-related breathing disorders have not been previously documented in Loeys-Dietz syndrome. The propositus had the prototypic features of Loeys-Dietz syndrome with a de novo mutation in TGFBR2. He developed severe obstructive sleep apnea during his infancy. Continuous positive airway pressure was introduced at age 7 years and provided significant improvement in his nocturnal apnea and sleep apnea-related symptoms, such as enuresis. Marfan syndrome is known to be associated with a high risk of sleep apnea because of its characteristic craniofacial and connective tissue abnormalities. Similarly, the severe craniofacial abnormalities in Loeys-Dietz syndrome may predispose patients to severe obstructive sleep apnea, even at a very young age. Despite the severity of obstructive sleep apnea in the propositus, the administration of continuous positive airway pressure was highly effective in alleviating his symptoms. In summary, severe obstructive sleep apnea was successfully treated using continuous positive airway pressure in a patient with Loeys-Dietz syndrome. Careful evaluation and aggressive intervention for the alleviation of obstructive sleep apnea is warranted in Loeys-Dietz syndrome.
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PMID:Severe obstructive sleep apnea in Loeys-Dietz syndrome successfully treated using continuous positive airway pressure. 2368 61

Marfan's syndrome is a rare genetic disorder caused by a mutation of the gene FBN1, coding for the protein fibrillin-1. Cardiovascular, musculoskeletal and ophthalmic manifestations are the most commonly observed, but minor diagnostic criteria also include pulmonary manifestations. Pneumothorax, frequently relapsing, affects 5 to 11% of patients. Rib cage abnormalities (pectus excavatum or pectus carinatum) and apical blebs may contribute to their occurrence. Treatment does not require any specific procedure but there is an increased risk of recurrence. Pectus excavatum affects up to 60% of the patients, without any functional impairment in most cases. Surgery may be required (using the Nuss procedure) in case of cardiovascular or psychological symptoms. Marfan's syndrome is frequently associated with obstructive sleep apnoea, which may itself contribute to aortic dilatation. Some studies suggest a potential role of craniofacial abnormalities in the pathogenesis of sleep apnea in these patients. Pulmonologists should consider Marfan's syndrome when treating patients for recurrent spontaneous pneumothorax or rib cage abnormalities, since early detection of cardiac abnormalities improves the prognosis significantly.
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PMID:[Respiratory manifestations of Marfan's syndrome]. 2576 22

Life expectancy for a person with Marfan syndrome has essentially doubled over the past four decades. During this period, the clinical histories of the organs managed routinely have improved, and will continue to be. Prominent examples are the eyes, the heart and aorta, and some features of the skeletal system. Meanwhile, the natural histories of organ systems that have not been subjected to treatment need to be described. This is particularly important as due to the improved life span many symptoms and organ systems are only recently being recognized as being intrinsic to Marfan syndrome. Examples are the distal aorta and peripheral arteries, ventricular function, the central nervous system, sleep apnea, and adiposity. As a result, each person with Marfan syndrome will need to be evaluated and followed by more specialists than previously. Moreover, the coordinator of diagnostic testing and clinical referral must be aware of the expanded phenotype as people with Marfan syndrome age and the importance of life-long management of classical and novel features. The benefits of increased longevity and its consequences need to be addressed by investigators, health-care providers, and patients alike.
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PMID:Marfan syndrome: improved clinical history results in expanded natural history. 3057 97

Introduction: The revised Ghent nosology presents the classical features of Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well-known features.Areas covered: The German Marfan Organization listed unusual symptoms and clinical experts reviewed the literature on clinical features of Marfan syndrome not listed in the Ghent nosology. Thereby we identified the following features: (1) bicuspid aortic valve, mitral valve prolapse, pulmonary valve prolapse, tricuspid valve prolapse, (2) heart failure and cardiomyopathy, (3) supraventricular arrhythmia, ventricular arrhythmia, and abnormal repolarization, (4) spontaneous coronary artery dissection, anomalous coronary arteries, and atherosclerotic coronary artery disease, tortuosity-, aneurysm-, and dissection of large and medium-sized arteries, (5) restrictive lung disease, parenchymal lung disease, and airway disorders, (6) obstructive- and central sleep apnea, (7) liver and kidney cysts, biliary tract disease, diaphragmatic hernia, and adiposity, (8) premature labor, and urinary incontinence, (9) myopathy, reduced bone mineral density, and craniofacial manifestations, (10) atrophic scars, (11) caries, and craniomandibular dysfunction, (12) headache from migraine and spontaneous cerebrospinal fluid leakage, (13) cognitive dysfunction, schizophrenia, depression, fatigue, and pain, (14) and activated fibrinolysis, thrombin, platelets, acquired von Willebrand disease, and platelet dysfunction.Expert commentary: Future research, nosologies, and guidelines may consider less well-known features of Marfan syndrome.
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PMID:Features of Marfan syndrome not listed in the Ghent nosology - the dark side of the disease. 3182 51