Síndrome de Marfan: informe de dos casos by Miguel Guzmán Urrego, Hernando Rocha Posada

“…Two cases of Marfan's syndrome are presented showing minimum clinical features and different signs. …”
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Early Aberrant Angiogenesis Due to Elastic Fiber Fragmentation in Aortic Valve Disease by Robert B. Hinton, Amy L. Juraszek, Amy M. Opoka, Benjamin J. Landis, J. Michael Smith, Robert P. Mecham, Kevin E. Bove

“…Different types of EFF were present in Williams syndrome (WS) and Marfan syndrome (MFS) aortic valves; WS but not MFS aortic valves demonstrated angiogenesis. …”
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Identification of novel genetic susceptibility loci for thoracic and abdominal aortic aneurysms via genome-wide association study using the UK Biobank Cohort. by Tamara Ashvetiya, Sherry X Fan, Yi-Ju Chen, Charles H Williams, Jeffery R O'Connell, James A Perry, Charles C Hong

“…We also found a common FBN1 linkage group that is associated with TAA and aortic dissection in patients who do not have Marfan syndrome. These FBN1 variants suggest shared pathophysiology between Marfan disease and sporadic TAA.…”
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Pathogenic Mechanisms of Bicuspid Aortic Valve Aortopathy by Noor M. Yassine, Jasmine T. Shahram, Simon C. Body

“…Further, in contrast to Marfan syndrome, the AAD seen with BAV is infrequently present as a strongly inherited syndromic phenotype; rather, it appears to be a less-penetrant, milder phenotype. …”
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Pneumotórax espontâneo â A pista para outro diagnóstico by Susana Rocha, Luísa Pereira, Celeste Barreto

“…A monitorização da progressão da doença e a prevenção de complicações graves, nomeadamente cardiovasculares, são imprescindíveis.Rev Port Pneumol 2008; XIV (5): 699-704 Abstract: Marfan syndrome is an autosomal dominant illness of the connective tissue, with typical skeletal, ocular and cardiovascular manifestations. …”
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Biometric Variations in High Myopia Associated with Different Underlying Ocular and Genetic Conditions by Hashem H. Ghoraba, MD, MSc, Cassie A. Ludwig, MD, MS, Darius M. Moshfeghi, MD

“…Retinopathy of prematurity-associated high myopia is primarily lenticular, while Stickler syndrome-associated high myopia is axial. Marfan syndrome-associated high myopia is derived from both axial and lenticular mechanisms.…”
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Absent right superior vena cava and persistent left superior vena cava: An incidental finding by Swati Joshi, Ajmer Singh

“…A patient with Marfan syndrome undergoing Bentall operation was found to have an absent right superior vena cava and persistent left superior vena cava. …”
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Aortic diseases : clinical diagnostic imaging atlas / by 489614 Hutchison, Stuart J.

Aortic diseases [electronic resource] : clinical diagnostic imaging atlas / by 489614 Hutchison, Stuart J.

Retinal detachments in the pediatric population by Nicola Yi'an Gan, Wai-Ching Lam

“…A spectrum of diseases from rhegmatogenous RD in Stickler syndrome, Marfan syndrome, and choroidal coloboma to exudative RD in Coats disease, to tractional RD in persistent fetal vasculature, and combined RDs in familial exudative vitreoretinopathy are described with the management pearls for each.…”
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DNA DIAGNOSTICS AND MUTATION SPECTRUM OF THE GENE FBN1 IN MARFAN’S SYNDROME by Yu. A. Rogozhina, V. A. Rumyantseva, A. A. Bukaeva, E. V. Zaklyazminskaya

“…The development of an optimal protocol for diagnostic search for mutations with the use of the new generation sequencing technique (NGS) and evaluation of the mutation spectrum in Russian selection of the patients with Marfan syndrome.Material and methods. Totally 32 patients included with Marfan syndrome. …”
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The non-syndromic familial thoracic aortic aneurysms and dissections maps to 15q21 locus by Chandok Gurangad, Farahani Maryam M, Sadeghpour Anita, Keramati Ali R, Mani Arya

“…The most common familial TAA is Marfan syndrome (MFS), which is primarily caused by mutations in <it>fibrillin-1 </it>(<it>FBN1</it>) gene. …”
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Multiset sparse partial least squares path modeling for high dimensional omics data analysis by Attila Csala, Aeilko H. Zwinderman, Michel H. Hof

“…Furthermore, we analysed high dimensional omics datasets to explore biological pathways associated with Marfan syndrome and with Chronic Lymphocytic Leukaemia. …”
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Caracterização genotípica de uma população de doentes portugueses com síndrome de Marfan by Ana Lebreiro, Elisabete Martins, Cristina Cruz, Jorge Almeida, Sofia Pimenta, Miguel Bernardes, José Carlos Machado, M. Júlia Maciel, Cassiano Abreu-Lima

“…Abstract: Introduction: The diagnosis of Marfan syndrome (MFS) depends on a multidisciplinary clinical evaluation. …”
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Диспластические синдромы и фенотипы в оценке изменений интервала QT при малых аномалиях сердца by А. В. Ягода, Н. Н. Гладких, Я. С. Григорян

“…Correlations were revealed between the QT interval disorder and myxomatous mitral valve prolapse, phenotype similar to Marfan syndrome, and benign joints hypermobility.…”
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Functional pulmonary atresia in newborn with normal intracardiac anatomy: Successful treatment with inhaled nitric oxide and pulmonary vasodilators by Gürkan Altun, Kadir Babaoglu, Köksal Binnetoglu, Nazan Kavas, Ayse Engin Arisoy

“…It is usually associated with Ebstein′s anomaly, Uhl′s anomaly, neonatal Marfan syndrome and tricuspid valve dysplasia. However, functional pulmonary atresia is rarely reported in newborn with anatomically normal heart. …”
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Microspherophakia: A clinical approach and mini review with a case report by Sucharita Das, Ajai Agrawal, Prashant K Verma

“…Microspherophakia can be found in systemic or ocular conditions, such as Marfan's syndrome, Weill–Marchesani syndrome, iridocorneal endothelial syndrome, and Axenfeld–Rieger syndrome. …”
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Beals syndrome (congenital contractural arachnodactyly) in children: Clinical symptoms, diagnosis, treatment, and prevention by A. N. Semyachkina, E. A. Bliznets, V. Yu. Voinova, S. V. Bochenkov, M. N. Kharabadze, E. A. Nikolaeva, A. V. Polyakov

“…The investigators made a differential diagnosis with other connective tissue diseases, such as Marfan syndrome, Stickler syndrome, Ehlers–Danlos syndrome, homocystenuria, and arthrogryposis. …”
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Espessura central da córnea: catarata congênita, pseudofacia e afacia Central corneal thickness: congenital cataracts, pseudophakia and aphakia by Weika Eulálio de Moura Santos, José Joarez de Siqueira Junior, Gustavo Salomão, José Ricardo Carvalho Lima Rehder

“…Subjects with Down Syndrome, aniridia, Marfan Syndrome, glaucoma, anterior segment abnormalities or intraocular pressure over 30 mmHg were excluded. …”
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Connective tissue disease: an important cause of reoperation of aorta by LI Tianbo, LIU Chencheng, XU Bo, WANG Yong, XIAO Yingbin

“…There were 19 cases of connective tissue disease, including 9 cases of Behcet's disease, 4 cases of Marfan's syndrome and 6 cases of bicuspid aortic valve. …”
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