Biomaterial Database

Sleep apnea in Marfan's syndrome. Increased upper airway collapsibility during sleep. 1995

P A Cistulli, and C E Sullivan

Center for Respiratory Failure and Sleep Disorders, Royal Prince Alfred Hospital, Australia.

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.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D008382	Marfan Syndrome	An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE; AORTIC ANEURYSM; and AORTIC DISSECTION. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome (type 1) is associated with mutations in the gene encoding FIBRILLIN-1 (FBN1), a major element of extracellular microfibrils of connective tissue. Mutations in the gene encoding TYPE II TGF-BETA RECEPTOR (TGFBR2) are associated with Marfan syndrome type 2.	Marfan Like Connective Tissue Disorder,Marfan Syndrome Type 1,Marfan Syndrome Type 2,Marfan Syndrome, Type II,Marfan Syndrome, Type I,Marfan's Syndrome,Marfans Syndrome
D010614	Pharynx	A funnel-shaped fibromuscular tube that conducts food to the ESOPHAGUS, and air to the LARYNX and LUNGS. It is located posterior to the NASAL CAVITY; ORAL CAVITY; and LARYNX, and extends from the SKULL BASE to the inferior border of the CRICOID CARTILAGE anteriorly and to the inferior border of the C6 vertebra posteriorly. It is divided into the NASOPHARYNX; OROPHARYNX; and HYPOPHARYNX (laryngopharynx).	Throat,Pharynxs,Throats
D011175	Positive-Pressure Respiration	A method of mechanical ventilation in which pressure is maintained to increase the volume of gas remaining in the lungs at the end of expiration, thus reducing the shunting of blood through the lungs and improving gas exchange.	Positive End-Expiratory Pressure,Positive-Pressure Ventilation,End-Expiratory Pressure, Positive,End-Expiratory Pressures, Positive,Positive End Expiratory Pressure,Positive End-Expiratory Pressures,Positive Pressure Respiration,Positive Pressure Ventilation,Positive-Pressure Respirations,Positive-Pressure Ventilations,Pressure, Positive End-Expiratory,Pressures, Positive End-Expiratory,Respiration, Positive-Pressure,Respirations, Positive-Pressure,Ventilation, Positive-Pressure,Ventilations, Positive-Pressure
D012044	Regression Analysis	Procedures for finding the mathematical function which best describes the relationship between a dependent variable and one or more independent variables. In linear regression (see LINEAR MODELS) the relationship is constrained to be a straight line and LEAST-SQUARES ANALYSIS is used to determine the best fit. In logistic regression (see LOGISTIC MODELS) the dependent variable is qualitative rather than continuously variable and LIKELIHOOD FUNCTIONS are used to find the best relationship. In multiple regression, the dependent variable is considered to depend on more than a single independent variable.	Regression Diagnostics,Statistical Regression,Analysis, Regression,Analyses, Regression,Diagnostics, Regression,Regression Analyses,Regression, Statistical,Regressions, Statistical,Statistical Regressions
D005260	Female		Females
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D000403	Airway Resistance	Physiologically, the opposition to flow of air caused by the forces of friction. As a part of pulmonary function testing, it is the ratio of driving pressure to the rate of air flow.	Airway Resistances,Resistance, Airway,Resistances, Airway
D012890	Sleep	A readily reversible suspension of sensorimotor interaction with the environment, usually associated with recumbency and immobility.	Sleep Habits,Sleeping Habit,Sleeping Habits,Habit, Sleep,Habit, Sleeping,Habits, Sleep,Habits, Sleeping,Sleep Habit