Effects of rapid maxillary expansion and mandibular advancement on upper airways in Marfan's syndrome children: a home sleep study and cephalometric evaluation.

PURPOSE: Evaluation of the effects of rapid maxillary expansion and mandibular advancement using Propulsor Universal Light appliance on the upper airways in Marfan's syndrome children through home sleep studies, Epworth Sleepiness Scale questionnaire, and cephalometric analysis of the upper airways on lateral radiographs. METHODS: The study sample consisted of 30 children with Marfan's syndrome, and the control group consisted of 30 untreated and matched children. For Marfan subjects, data were taken at different time points compared to treatment: at T0 (before treatment), T1 (after rapid maxillary expansion), and T2 (after mandibular advancement). For control subjects, data were taken at similar intervals, at three follow-up visits: at T0 (as a starting screening tool), T1 (after approximately 2 years), and T2 (in proximity of the peak skeletal growth). RESULTS: Apnea-hypopnea and oxygen desaturations were significantly higher in the study group at T0 and T1 compared with control children. At T2, the values were not significant (p value 0.442 for both apnea-hypopnea index (AHI) and oxygen desaturation index (ODI)). Horizontal airway dimensions were significantly reduced, and vertical airway values were significantly increased in Marfan's syndrome at T0 and T1 but not at T2 (p values at T2: 0.071 for Phw1-Psp, 0.106 for Phw1-Psp', 0.101 for Phw2-Tb, 0.559 for UAL in male and 0.560 for UAL in female). CONCLUSIONS: Early rapid maxillary expansion and mandibular advancement using Propulsor Universal Light appliance significantly improved airway patency of Marfan's syndrome children and are strongly encouraged as a routine treatment for both correction of class II malocclusions and prevention of obstructive sleep apnea.

Noncoronary aortic cusp rupture in an adult patient with ventricular septal defect: echocardiographic diagnosis.

Aortic regurgitation is a common complication of ventricular septal defects. The most common mechanism is right or noncoronary cusp prolapse. Other mechanisms are right or noncoronary cusp fibrosis resulting in thickening and restricted motion of the leaflets or infective endocarditis leading to cusp perforation. We describe a case of subacute and severe aortic regurgitation due to noncoronary cusp prolapse resulting in the development of a large aneurysm and rupture of the noncoronary sinus of Valsalva into the right atrium.

Intracranial Arterial Tortuosity in Marfan Syndrome and Loeys-Dietz Syndrome: Tortuosity Index Evaluation Is Useful in the Differential Diagnosis.

BACKGROUND AND PURPOSE: The association of arterial tortuosity and connective tissue diseases is widely reported in the literature, but only a few studies were based on a quantitative evaluation of this arterial phenotype, and none of the latter examined the intracranial vasculature. The aim of this study was to evaluate the degree of intracranial arterial tortuosity in patients with Marfan syndrome and those with Loeys-Dietz syndrome, and to assess its usefulness in the differential diagnosis. MATERIALS AND METHODS: We performed a retrospective analysis of 68 patients with genetically confirmed Marfan syndrome (n = 36) or Loeys-Dietz syndrome (n = 32), who underwent at least 1 MRA of the brain at our institution. Fifty-two controls were randomly selected among patients who presented with headache and without any known comorbidity. Tortuosity indexes of 4 intracranial arterial segments were measured on a 3D volume-rendered angiogram by using the following formula: [Formula: see text]. RESULTS: Both Marfan syndrome and Loeys-Dietz syndrome showed a significantly higher tortuosity index compared with controls in all examined vessels. The tortuosity index of the vertebrobasilar system showed an excellent interrater reliability (intraclass correlation coefficient, 0.99) and was the strongest independent predictor of Loeys-Dietz syndrome in patients with connective tissue disease (P = .002), with a 97% specificity for this pathology when its value was > 60. CONCLUSIONS: The tortuosity index of intracranial arteries is an easily calculated and highly reproducible measure, which shows a high specificity for Marfan syndrome and Loeys-Dietz syndrome and may be useful in differentiating these 2 entities.