Candidate gene linkage analysis indicates genetic heterogeneity in Marfan syndrome

Teixeira, Lucas Ribeiro; Mandelbaum, K.L.; Pereira, Lygia V.; Perez, Ana Beatriz Alvarez

doi:10.1590/s0100-879x2011007500095

Cited by 3 publications

(2 citation statements)

References 27 publications

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“…According to estimations, up to 5% of MFS patients are carriers of the mutation in the TGF-βR2 gene [ 28 ]. These alterations were found to be associated with aortic dilation [ 29 ]. In 25% of cases, Marfan’s syndrome is caused by de-novo mutations.…”

Section: Marfan’s Syndrome (Mfs)mentioning

confidence: 99%

Oxidative Stress-Related Susceptibility to Aneurysm in Marfan’s Syndrome

et al. 2021

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The involvement of highly reactive oxygen-derived free radicals (ROS) in the genesis and progression of various cardiovascular diseases, including arrhythmias, aortic dilatation, aortic dissection, left ventricular hypertrophy, coronary arterial disease and congestive heart failure, is well-established. It has also been suggested that ROS may play a role in aortic aneurysm formation in patients with Marfan’s syndrome (MFS). This syndrome is a multisystem disorder with manifestations including cardiovascular, skeletal, pulmonary and ocular systems, however, aortic aneurysm and dissection are still the most life-threatening manifestations of MFS. In this review, we will concentrate on the impact of oxidative stress on aneurysm formation in patients with MFS as well as on possible beneficial effects of some agents with antioxidant properties. Mechanisms responsible for oxidative stress in the MFS model involve a decreased expression of superoxide dismutase (SOD) as well as enhanced expression of NAD(P)H oxidase, inducible nitric oxide synthase (iNOS) and xanthine oxidase. The results of studies have indicated that reactive oxygen species may be involved in smooth muscle cell phenotype switching and apoptosis as well as matrix metalloproteinase activation, resulting in extracellular matrix (ECM) remodeling. The progression of the thoracic aortic aneurysm was suggested to be associated with markedly impaired aortic contractile function and decreased nitric oxide-mediated endothelial-dependent relaxation.

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Section: Marfan’s Syndrome (Mfs)mentioning

confidence: 99%

Oxidative Stress-Related Susceptibility to Aneurysm in Marfan’s Syndrome

et al. 2021

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“…The first mutation in FBN1 found in Marfan syndrome was published in 1991 13 . There is still discussion on the subject of locus heterogeneity, but it is clear that the majority of Marfan syndrome patients have a pathogenic variant in the FBN1 gene 14,15 . In many countries, however, genetic testing is not readily available, so the use of the clinical criteria remains important in assessing Marfan syndrome and related phenotypes 16,17 .…”

Section: Introductionmentioning

confidence: 99%

Marfan Syndrome, A Review

Pals

2018

J. Biomed. Transl. Res.

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Marfan syndrome is named after the French pediatrician Antoine Bernard-Jean Marfan who described in 1896 a girl with arachnodactyly and long limbs1. The patient also had congenital contractures of the elbows and would not fulfill the current criteria for Marfan syndrome. She probably was suffering from a condition that we now call contractural arachnodactyly, caused by mutations in the FBN2 gene.The clinical features of Marfan syndrome affect many systems of the body. The most obvious are the skeletal features, long limbs, tall stature, long thin fingers (arachnodactyly or spider fingers). The skeletal features can be scored objectively as: arm span more than 1.05 x body length; wrist sign (thumb and index finger can encircle the wrist of the other hand with at least one digit overlap) and thumb sign (when making a fist around the thumb, one digit of the thumb sticks out). The main neurological symptom is dural ectasias. The most severe symptoms are cardiovascular: mitralis valve prolapse, aortic dilatation and thoracic aortic aneurysms and dissections, which may lead to sudden death5. However, I noticed in discussions with patients that they often consider the ocular symptoms, severe myopia and lens luxation, the worst for themselves, because the latter may lead to blindness.

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Current World Literature

2012

Current Opinion in Pediatrics

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Candidate gene linkage analysis indicates genetic heterogeneity in Marfan syndrome

Cited by 3 publications

References 27 publications

Oxidative Stress-Related Susceptibility to Aneurysm in Marfan’s Syndrome

Oxidative Stress-Related Susceptibility to Aneurysm in Marfan’s Syndrome

Marfan Syndrome, A Review

Current World Literature

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