Manifestations respiratoires du syndrome de Marfan

Congenital chest wall or pectus deformities including pectus excavatum (funnel chest) and pectus carinatum (pigeon chest) affect a significant proportion of the general population and up to 70% of patients with Marfan syndrome. Patients often experience significant morbidity and psychological distress, which can worsen with age. Here we discuss new techniques for both operative and non-operative treatment of pectus deformity, the importance of a welltimed intervention and special considerations in patients with Marfan syndrome.

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“…For example, Marfan syndrome is also associated with recurrent pneumothoraces, bullae, obstructive sleep apnoea, fibrosis and emphysema. 12 , 13 …”

Section: Symptomsmentioning

confidence: 99%

Pectus Updates and Special Considerations in Marfan Syndrome

2018

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“…The most studied genetic disorder associated with mutations in FBN1 is MfS. 16 These mutations are distributed throughout the length of the FBN1 gene, and lead to the degeneration of the elastic microfibrillar architecture. 9 , 17 Several clinical manifestations are associated with this syndrome; cardiac, skeletal and ocular systems are often involved.…”

Section: Discussionmentioning

confidence: 99%

Retinal and Choroidal Vasculature in Patients with Marfan Syndrome

Marino

Cesareo

Aloe

et al. 2020

Trans. Vis. Sci. Tech.

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To assess the retinal and choroidal vasculature in patients with genetically confirmed Marfan syndrome (MfS). Methods: This prospective, case-control, observational study included 48 eyes of 24 patients with a genetic diagnosis of MfS and compared them with 52 eyes of 26 healthy controls. Best-corrected visual acuity, choroidal and retinal thickness measured by spectral domain-optical coherence tomography, retinal and choroidal vasculature characterized by optical coherence tomography angiography, were collected. A genetic counseling was carried out. A transthoracic echocardiogram was performed to evaluate the dimension of the aortic root, the ascending aorta and the left ventricle function and dimensions. Results: A significant decrease in the superficial and deep retinal capillary plexi vessel density (VD) was evident, such as a decrease in the choriocapillaris plexus VD. In patients with MfS, a negative correlation between left ventricular diameter and the VD of the superficial and deep plexi was observed. Patients with MfS with greater posterior wall and interventricular septum dimensions had lower VD in both plexi (P < 0.05). Moreover, there was a negative correlation between the dimension of the ascending aorta and foveal choriocapillary VD. In patients with MfS, increasing diameter of the ascending aorta was associated with a lower foveal choriocapillary VD (P < 0.05). Conclusions: The severity of MfS correlates with the impairment of the retinal and choroidal vasculature. Translational Relevance: Optical coherence tomography angiography may be a reproducible and noninvasive tool to study retinal blood flow in patients with MfS, with potential diagnostic and prognostic value.

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“…The high prevalence of OSAS in patients with MFS, already well established in the literature, may be justified by the high resistance of the nasal airways, probably mediated by maxillary constriction and arched palate, and involvement of the pharynx by the characteristic connective tissue defect in patients with MFS, making it more collapsible during sleep [10,19,22]. It is noteworthy that the degree of collapsibility observed in high and lean marfanoid patients is greater than that observed previously in typically obese patients with more severe forms of OSAS [10].…”

Section: Discussionmentioning

confidence: 99%

“…Among the predisposing factors for OSAS, we can highlight craniofacial abnormalities, such as hypoplasia/ maxillomandibular retrusion, increased amount of soft tissues and/or lymphoid tissue in the pharynx, nasal obstructions, hypothyroidism, acromegaly, and diminished action of pharyngeal dilator muscles. It is, therefore, a condition associated with a greater tendency to the collapse of the upper airways [10,[19][20][21][22].…”

Section: Introductionmentioning

confidence: 99%

Orthodontic-surgical treatment of a patient with Marfan Syndrome and Obstructive Sleep Apnea Syndrome: a case report with a 9-year follow-up

Rodrigues

Gabrielli

Oliveira

et al. 2019

RGO, Rev. Gaúch. Odontol.

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Marfan’s (MFS) syndrome is characterized by a defect in the connective tissue, which affects multiple organic systems. Therefore, the management of these patients requires a multidisciplinary approach. This case reports the orthodontic-surgical treatment of a patient who presented both Marfan’s and obstructive sleep apnea syndrome. Patient had malocclusion, TMJ clicking, vertical maxillary excess, mandibular retrognathia, severe esthetic compromise, signs and symptoms of obstructive sleep apnea syndrome, as well as alterationsin joints, cardiovascular and respiratory systems. He was treated with bimaxillary surgery aimed to enhance esthetics, occlusion and address the obstructive sleep apnea syndrome. The clinical results show that a desirable functional occlusion was achieved and both patient’s facial esthetics and quality of life were significantly improved. After a 9-year follow-up period, these pleasing features were maintained. The diagnosis and management of Marfan’s patients is challenging and require multidisciplinary follow-up.

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Manifestations respiratoires du syndrome de Marfan

Cited by 13 publications

References 49 publications

Pectus Updates and Special Considerations in Marfan Syndrome

Pectus Updates and Special Considerations in Marfan Syndrome

Retinal and Choroidal Vasculature in Patients with Marfan Syndrome

Orthodontic-surgical treatment of a patient with Marfan Syndrome and Obstructive Sleep Apnea Syndrome: a case report with a 9-year follow-up

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