Current insights in diagnosis and management of the cardiovascular complications of Marfan's syndrome

2002 ◽  
Vol 12 (4) ◽  
pp. 320-327 ◽  
Author(s):  
Gijs J. Nollen ◽  
Maarten Groenink ◽  
Ernst E. van der Wall ◽  
Barbara J. M. Mulder
Keyword(s):  
Connective Tissue ◽  
Medical Treatment ◽  
Clinical Features ◽  
Cardiovascular Complications ◽  
Chromosome 15 ◽  
Marfan’S Syndrome ◽  
Marfan's Syndrome ◽  
Diagnosis And Management ◽  
Fibrillin 1

AbstractMarfan's syndrome is an inherited disorder of connective tissue, caused by mutations in the fibrillin-1 gene located on chromosome 15. Diagnosis is still based on a combination of major and minor clinical features. Prognosis is mainly determined by the cardiovascular complications. Advances in surgical and medical treatment for these complications have dramatically improved the prognosis of the syndrome.

scholarly journals Marfan's syndrome: an overview

2010 ◽  
Vol 128 (6) ◽  
pp. 360-366 ◽  
Author(s):  
Shi-Min Yuan ◽  
Hua Jing
Keyword(s):  
Connective Tissue ◽  
Aortic Surgery ◽  
Clinical Manifestations ◽  
The Body ◽  
Dominant Negative ◽  
Dominant Negative Effect ◽  
Contributory Factor ◽  
Marfan’S Syndrome ◽  
Marfan's Syndrome ◽  
Organ Systems

Marfan's syndrome is an autosomal dominant condition with an estimated prevalence of one in 10,000 to 20,000 individuals. This rare hereditary connective tissue disorder affects many parts of the body. The diagnosis of Marfan's syndrome is established in accordance with a review of the diagnostic criteria, known as the Ghent nosology, through a comprehensive assessment largely based on a combination of major and minor clinical manifestations in various organ systems and the family history. Aortic root dilation and mitral valve prolapse are the main presentations among the cardiovascular malformations of Marfan's syndrome. The pathogenesis of Marfan's syndrome has not been fully elucidated. However, fibrillin-1 gene mutations are believed to exert a dominant negative effect. Therefore, Marfan's syndrome is termed a fibrillinopathy, along with other connective tissue disorders with subtle differences in clinical manifestations. The treatment may include prophylactic β-blockers and angiotensin II-receptor blockers in order to slow down the dilation of the ascending aorta, and prophylactic aortic surgery. Importantly, β-blocker therapy may reduce TGF-β activation, which has been recognized as a contributory factor in Marfan's syndrome. The present article aims to provide an overview of this rare hereditary disorder.

Neuropathy of Connective Tissue Diseases and Other Systemic Diseases

2019 ◽  
Vol 39 (05) ◽  
pp. 651-668
Author(s):  
Peter H. Jin ◽  
Susan C. Shin
Keyword(s):  
Peripheral Neuropathy ◽  
Connective Tissue ◽  
Clinical Features ◽  
Connective Tissue Diseases ◽  
Chemotherapeutic Agents ◽  
Nutritional Deficiencies ◽  
Systemic Diseases ◽  
Monoclonal Gammopathies ◽  
Diagnosis And Management

AbstractPeripheral neuropathy is associated with numerous systemic diseases. It is often the heralding finding, which can lead to earlier diagnoses and better outcomes. An understanding of the epidemiology and clinical features of these diseases is paramount to their diagnosis and management. This article will focus on neuropathy associated with connective tissue diseases, monoclonal gammopathies, paraneoplastic disorders, medications including chemotherapeutic agents, nutritional deficiencies, alcohol, and toxins.

Inherited defects of connective tissue: Ehlers–Danlos syndrome, Marfan’s syndrome, and pseudoxanthoma elasticum

2020 ◽  
pp. 4670-4687
Author(s):  
N.P. Burrows
Keyword(s):  
Extracellular Matrix ◽  
Connective Tissue ◽  
Extracellular Matrix Proteins ◽  
Pseudoxanthoma Elasticum ◽  
Matrix Proteins ◽  
Structural Defects ◽  
Marfan’S Syndrome ◽  
Marfan's Syndrome ◽  
Ehlers Danlos Syndrome ◽  
Danlos Syndrome

The inherited disorders of connective tissue are all conditions in which structural defects in collagen or other extracellular matrix proteins lead to its fragility, with the commonest sites of involvement being the skin, ligaments, vasculature, and hollow organs. These include Ehlers–Danlos syndrome, Marfan’s syndrome, and pseudoxanthoma elasticum. This chapter first examines Ehlers–Danlos syndrome, which is a heterogeneous group of disorders resulting from abnormalities in collagen synthesis and processing, or of other extracellular matrix proteins. They can be classified on the basis of descriptive clinical phenotype and/or underlying molecular cause. Most cases are autosomal dominant, but 30–50% may be sporadic. It then looks in detail at other disorders of the connective tissues, such as Marfan’s syndrome and pseudoxanthoma elasticum, including their presentations, diagnosis, treatment, and possible outlook.

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