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Successful Mitral Valve Replacement in an Infant with Neonatal Marfan Syndrome due to a Novel Missense Mutation of the FBN1 Gene
Int Heart J. 2022 Jul 30;63(4):777-781. doi: 10.1536/ihj.21-821. Epub 2022 Jul 14.ABSTRACTMarfan syndrome is an autosomal dominant genetic disorder of the fibrous connective tissue caused by pathogenic mutations in the fibrillin-1 gene. Neonatal Marfan syndrome is a rare type of Marfan syndrome that is genotypically and phenotypically different from classical Marfan syndrome and has a poor prognosis. Most patients with neonatal Marfan syndrome die during infancy due to severe and rapidly progressive cardiovascular disorders. Here, we present a case of an 11-year-old girl with neonatal Marfan syndrome due to a novel missens...
Source: International Heart Journal - July 13, 2022 Category: Cardiology Authors: Takahiro Motonaga Yuji Ohnishi Seigo Okada Yasuo Suzuki Takashi Furuta Mai Kawamura Naoko Okayama Yutaka Suehiro Shunji Hasegawa Source Type: research

Marfan syndrome caused by a novel FBN1 mutation with associated pigmentary glaucoma
In this report, ocular examination of a patient diagnosed with Marfan syndrome based on family history and aortic dilatation was performed, including measurement of facility of aqueous humor outflow by tonography. The patient did not have ectopia lentis at the age of 42 years. Based on optic nerve appearance, reduced outflow facility, elevated IOP with open angles and clear signs of pigment dispersion, the patient was diagnosed with pigmentary glaucoma. The patient was heterozygous for a novel truncating mutation in FBN1, p.Leu72Ter. Histology of normal human eyes revealed abundant expression of elastic fibers and fibrilli...
Source: American Journal of Medical Genetics Part A - February 26, 2013 Category: Genetics & Stem Cells Authors: John Kuchtey, Ta Chen Chang, Lampros Panagis, Rachel W. Kuchtey Tags: Clinical Report Source Type: research

The fibrillin-1 hypomorphic mgR/mgR murine model of Marfan syndrome shows severe elastolysis in all segments of the aorta
Objective: Fibrillin-1 hypomorphic mice (mgR/mgR) are accepted as a model of Marfan syndrome. Phenotypic investigations of this mouse have not previously included quantification of phenotypic features and detailed examinations of the histopathology other than in the ascending aorta.Methods: We developed a quantitative polymerase chain reaction assay to genotype the mice. Necropsy was performed on 50 male mice after natural death. We then sacrificed 10 mgR/mgR and 10 wild-type mice at 14-19 weeks to perform in vivo computed tomographic scans (n = 3) and microscopic examinations (n = 7). Four aortic segments (ascending, d...
Source: Journal of Vascular Surgery - January 7, 2013 Category: Surgery Authors: Simon Schwill, Philipp Seppelt, Johannes Grünhagen, Claus-Eric Ott, Manfred Jugold, Arjang Ruhparwar, Peter N. Robinson, Matthias Karck, Klaus Kallenbach Tags: Basic research studies Source Type: research

Aortic Disease in Patients with Marfan Syndrome: Aortic Volume Assessment for Surveillance Cardiac Imaging
Conclusion: Assessment of aortic volume is highly reproducible and may be suited for use in the detection of aortic expansion in patients with Marfan syndrome. © RSNA, 2013 Supplemental material: http://radiology.rsna.org/lookup/suppl/doi:10.1148/radiol.13122310/-/DC1
Source: Radiology - October 23, 2013 Category: Radiology Authors: den Hartog, A. W., Franken, R., de Witte, P., Radonic, T., Marquering, H. A., van der Steen, W. E., Timmermans, J., Scholte, A. J., van den Berg, M. P., Zwinderman, A. H., Mulder, B. J. M., Groenink, M. Tags: Magnetic Resonance Imaging, Cardiac Radiology Cardiac Imaging Source Type: research

Multisegment coloboma in a case of Marfan syndrome: another possible effect of increased TGFβ signaling
We report a newborn boy presenting with coloboma of the iris, lens, retina, and optic disk who was subsequently diagnosed with Marfan syndrome. Marfan syndrome is a disorder of increased TGFβ signaling, and recent work in the mouse model suggests a role for TGFβ signaling in eye development and coloboma formation, suggesting a causal association between Marfan syndrome and coloboma.
Source: Journal of AAPOS - February 1, 2014 Category: Opthalmology Authors: Shannon. K. LeBlanc, Deepa Taranath, Scott Morris, Christopher P. Barnett Tags: Short Reports Source Type: research

Aortic Involvement in Pediatric Marfan syndrome: A Review
Abstract Outlining specific protocols for the management of pediatric patients with Marfan syndrome has been challenging. This is mostly due to a dearth of clinical studies performed in pediatric patients. In Marfan syndrome, the major sources of morbidity and mortality relate to the cardiovascular system. In this review, we focus on aortic involvement seen in pediatric patients with Marfan syndrome, ranging from aortic dilatation to aortic rupture and heart failure. We discuss the histological, morphological, and pathogenetic basis of the cardiac manifestations seen in pediatric Marfan syndrome and use a spec...
Source: Mammalian Genome - February 11, 2015 Category: Genetics & Stem Cells Source Type: research

Neonatal Marfan syndrome: Report of two cases.
Authors: Abstract Marfan syndrome is rarely diagnosed in the neonatal period because of variable expression and age-dependent appearance of clinical signs. The prognosis is usually poor due to high probability of congestive heart failure, mitral and tricuspid regurgitations with suboptimal response to medical therapy and difficulties in surgical management. The authors have studied two cases of Marfan syndrome in the newborn period. Two cases of neonatal Marfan syndrome, one male and one female, were diagnosed by characteristic physical appearance. Both infants had significant cardiovascular abnormalities diagnose...
Source: Neuroendocrinology Letters - August 2, 2017 Category: Endocrinology Tags: Neuro Endocrinol Lett Source Type: research

Increased vertebral arterial tortuosity index in adult marfan FBN1 associated with adverses outcomes
ConclusionThis study allowed us to demonstrate that tortuosity indexes were significantly higher in Marfan patients and that the right ITV was significantly higher in Marfan patients at risk for dissection.
Source: Archives of Cardiovascular Diseases Supplements - July 5, 2018 Category: Cardiology Source Type: research

Families of people with Marfan syndrome. The relationship between the functioning of the family system and the life quality of the affected persons
CONCLUSIONS: The obtained results confirm the importance of supporting families of people with Marfan syndrome and specialist help aimed at dealing with emotional burden related to the health of the patient.PMID:34994739 | DOI:10.12740/PP/OnlineFirst/114838
Source: Psychiatria Polska - January 7, 2022 Category: Psychiatry Authors: Aleksandra Lewandowska-Walter Agnieszka Trawicka Marta Bogdanowicz Robert Sabiniewicz Lidia Wo źniak-Mielczarek Source Type: research

NADPH oxidase 4 attenuates cerebral artery changes during the progression of Marfan syndrome.
Abstract Marfan syndrome (MFS) is a connective tissue disorder that is often associated with fibrillin-1 (Fbn1) gene mutation and characterized by cardiovascular alterations, predominantly ascending aortic aneurysms. Although neurovascular complications are uncommon in MFS, the improvement in Marfan patients' life expectancy is revealing other secondary alterations, potentially including neurovascular disorders. However, little is known about small vessel pathophysiology in MFS. MFS is associated with hyperactivated transforming growth factor (TGF)-β signaling, which, among numerous other downstream effectors, in...
Source: American Journal of Physiology. Heart and Circulatory Physiology - March 4, 2016 Category: Physiology Authors: Onetti Y, Meirelles T, Dantas AP, Schröder K, Vila E, Egea G, Jiménez-Altayó F Tags: Am J Physiol Heart Circ Physiol Source Type: research

Management Strategies of Ocular Abnormalities in Patients with Marfan Syndrome: Current Perspective.
Authors: Esfandiari H, Ansari S, Mohammad-Rabei H, Mets MB Abstract Marfan syndrome is an autosomal dominant genetic connective tissue disorder that results from mutations in the fibrillin-1 gene located on chromosome band 15q15-21. Fibrillin, a glycoprotein, is widely expressed throughout the body and contributes to the elasticity and force-bearing capacity of connective tissue. In the eye, fibrillin is a key constituent of the ciliary zonules, which suspend the crystalline lens in place. The zonular defect leads to ectopia lentis, which is a hallmark of Marfan ocular abnormalities and occurs in 60% to 80% of case...
Source: Journal of Ophthalmic and Vision Research - March 5, 2019 Category: Opthalmology Tags: J Ophthalmic Vis Res Source Type: research

Orthodontic-surgical treatment of a patient with Marfan Syndrome and Obstructive Sleep Apnea Syndrome: a case report with a 9-year follow-up
ABSTRACT 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 bimaxillar...
Source: RGO - Revista Gaucha de Odontologia - October 28, 2019 Category: Dentistry Source Type: research

Features of Marfan syndrome not listed in the Ghent nosology - The Dark Side of the Disease.
Authors: von Kodolitsch Y, Demolder A, Girdauskas E, Kaemmerer H, Kornhuber K, Muino Mosquera L, Morris S, Neptune E, Pyeritz R, Rand-Hendriksen S, Rahman A, Riise N, Robert L, Staufenbiel I, Szöcs K, Vanem TT, Linke SJ, Vogler M, Yetman A, De Backer J Abstract Introduction: The revised Ghent nosology presents 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....
Source: Expert Review of Cardiovascular Therapy - December 14, 2019 Category: Cardiology Tags: Expert Rev Cardiovasc Ther Source Type: research

Musculo-skeletal abnormalities in patients with Marfan syndrome.
CONCLUSION: This is the first paper which includes the diagnosis and the management of the associated musculo-skeletal abnormalities in patients with Marfan syndrome, stressing that patients with Marfan syndrome are exhibiting great variability in the natural history and the severity of musculo-skeletal abnormalities. PMID: 23399831 [PubMed]
Source: Clinical Medicine Insights: Arthritis and Musculoskeletal Disorders - December 2, 2014 Category: Orthopaedics Tags: Clin Med Insights Arthritis Musculoskelet Disord Source Type: research