Marfan syndrome is a connective-tissue disease inherited in an autosomal dominant manner and caused mainly by mutations in the gene FBN1. This gene encodes fibrillin-1, a glycoprotein that is the main constituent of the microfibrils of the extracellular matrix. Most mutations are unique and ...
Marfan syndrome. Part 1: pathophysiology and diagnosis.doi:10.1038/nrcardio2010.30Marfan syndrome is a connective-tissue disease inherited in an autosomal dominant manner and caused mainly by mutations in the gene FBN1. This gene encodes fibrillin-1, a glycoprotein that is the main constituent of ...
Marfan syndrome (MFS) is an inherited connective tissue disorder, noteworthy for its worldwide distribution, relatively high prevalence, and clinical variability, as well as pleiotropic manifestations involving primarily the ocular, skeletal, and cardiov
a. What type of anemia does he have? b. What is the reason for her neurologic symptoms? c. What type of treatment would be appropriate? What is the pathophysiology of Marfan's syndrome? What medical conditions may cause a deficiency in thiamine? How would...
Furthmayr H, Francke U (1997). Ascending aortic aneurysm with or without features of Marfan syndrome and other fibrillinopathies: new insights. Semin. Thorac. Cardiovasc. Surg. 9, 191–205. PubMedCASGoogle Scholar De Bakey ME, Beall AC, Cooley DA, et al. (1966). Dissecting aneurysms of...
Marfan syndrome and Loeys-Dietz syndrome. One important pathway for hereditary thoracic aortic diseases is the transforming growth factor-β (TGF-β) cell-signalling pathway. Pathogenic gene mutations affecting various levels of this pathway have been implicated in aortic root aneurysm formation. ...
What is the pathophysiology of Marfan syndrome? What is the etiology of Parkinson's disease? What is severe nonproliferative diabetic retinopathy? What is the etiology of ascariasis? What is photocoagulation in diabetic retinopathy? What is the pathophysiology of cerebral palsy?
the gene in question is located on an autosome & the mutant phenotype is seen even if a normal gene is present (eg Huntington's and Marfan's syndrome) Autosomal Recessive gene located on an autosome but is insufficient to produce mutant phenotype unless both genes are inherited (eg cystic fi...
Abnormalities of the ascending aorta, in the absence of valve pathology, may also cause AR. Such abnormalities may occur with the following conditions: Longstanding, uncontrolled hypertension Marfan syndrome Idiopathic aortic dilation Cystic medial necrosis Senile aortic ectasia and dilation Syphiliti...
What is the pathophysiology of Hirschsprung disease? What is the pathophysiology of Marfan syndrome? What is the pathophysiology of gout? What is the pathophysiology of cardiomyopathy? What is the pathophysiology of dehydration? What is the pathophysiology of hyponatremia?