Marfan syndrome and marfan-like syndromes.

21:48 EDT 27th March 2015 | BioPortfolio

Summary of "Marfan syndrome and marfan-like syndromes."

Marfan syndrome (MFS) is a hereditary connective tissue disorder. Studies of MFS have established the critical contribution of fibrillin-1 deficiency to disease progression through altered cell-matrix interactions and dysregulated TGF-β signalling. It is now known that the disease is caused by altered regulation of TGF-β. As a result, the definition of MFS- and MFS-related diseases as the prototypical structural disorder of the connective tissue has changed to that of a developmental abnormality with broad and complex effects on the morphogenesis and tissue remodelling.


Kildegårdsvej 16 B, 2. tv., 2900 Hellerup.

Journal Details

This article was published in the following journal.

Name: Ugeskrift for laeger
ISSN: 1603-6824
Pages: 333-337


PubMed Articles [5541 Associated PubMed Articles listed on BioPortfolio]

Significant fibrosis after radiation therapy in a patient with Marfan syndrome.

Marfan syndrome is one of the collagen vascular diseases that theoretically predisposes patients to excessive radiation-induced fibrosis yet there is minimal published literature regarding this clinic...

Angiotensin receptor blockers: A panacea for Marfan syndrome and related disorders?

The study of mouse models for Marfan syndrome, an autosomal dominant connective tissue disorder caused by mutations in fibrillin-1 (FBN1), has shifted our understanding of the pathogenesis of thoracic...

Hybrid treatment for thoracoabdominal aorti aneurysm in patients with Marfan syndrome.

Marfan Syndrome is a heritable disorder of connective tissue leading to aortic aneurysms and other cardiovascular complications associated with reduced life expectancy. Although contemporary managemen...

The Incidence and Severity of Physical Pain Symptoms in Marfan Syndrome: A Survey of 993 Patients.

To characterize the incidence, severity, quality and treatment of pain in a large cohort of Marfan patients.

Chest wall reconstruction in Marfan syndrome following aortic root replacement.

Chest wall and spine deformities are common in Marfan syndrome, and often coexist with cardiac defects. Surgery is often needed to both the aortic root and the anterior chest wall, and early spinal su...

Clinical Trials [2225 Associated Clinical Trials listed on BioPortfolio]

Development of a Blood Test for Marfan Syndrome

The objective of this study is to determine whether a simple blood test can be a useful clinical tool for monitoring aortic disease in Marfan syndrome and Marfan-related disorders.

Angiotensin Converting Enzyme Inhibitors in Marfan Syndrome

The purpose of this research is to assess the effects of a drug called perindopril on the aorta in people known to have Marfan Syndrome. The aorta is the major artery of the body that come...

Comparison of Two Medications Aimed at Slowing Aortic Root Enlargement in Individuals With Marfan Syndrome--Pediatric Heart Network

Marfan syndrome is a hereditary connective tissue disorder. Many individuals with this condition die because of the associated heart and blood vessel abnormalities. This study will compare...

Atenolol Versus Losartan in the Prevention of Progressive Dilation of the Aorta in Marfan Syndrome

The purpose of this study is to evaluate the efficacy of Losartan versus Atenolol in the progression of aortic dilatation in patients with Marfan syndrome.

Effects of Losartan Versus Atenolol on Aortic and Cardiac Muscle Stiffness in Adults With Marfan Syndrome

Marfan syndrome is an inherited connective tissue disorder with morbidity and mortality from aortic dilation and dissection. The degree of aortic dilation and response to beta-blockade (s...

Medical and Biotech [MESH] Definitions

An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations include MITRAL VALVE PROLAPSE, dilation of the AORTA, and aortic dissection. Other features include lens displacement (ectopia lentis), disproportioned long limbs and enlarged DURA MATER (dural ectasia). Marfan syndrome is associated with mutations in the gene encoding fibrillin, a major element of extracellular microfibrils of connective tissue.

An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. Phenotypes closely resemble MARFAN SYNDROME; Marfanoid craniosynostosis syndrome (Shprintzen-Goldberg syndrome); and EHLERS-DANLOS SYNDROME.

Two syndromes of oral, facial, and digital malformations. Type I (Papillon-Leage and Psaume syndrome, Gorlin-Psaume syndrome) is inherited as an X-linked dominant trait and is found only in females and XXY males. Type II (Mohr syndrome) is inherited as an autosomal recessive trait.

Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome.

Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (DUMPING SYNDROME and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies.

Search BioPortfolio:

Relevant Topic

Latest News Clinical Trials Research Drugs Reports Corporate
Rheumatology is the medical specialty concerned with the diagnosis and management of disease involving joints, tendons, muscles, ligaments and associated structures (Oxford Medical Dictionary). It is an active area of medical research, because of the d...