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Today, cardiovascular symptoms of Marfan syndrome are still the most significant issues in diagnosis and management of the disease, but adequate prophylactic monitoring and prophylactic therapy offers something approaching a normal lifespan, and more manifestations of the disease are being discovered as more patients live longer. [75]
Familial thoracic aortic aneurysm is an autosomal dominant [1] disorder of large arteries. There is an association between familial thoracic aortic aneurysm and Marfan syndrome as well as other hereditary connective tissue disorders.
2200 14118 Ensembl ENSG00000166147 ENSMUSG00000027204 UniProt P35555 Q61554 RefSeq (mRNA) NM_000138 NM_007993 RefSeq (protein) NP_000129 NP_032019 Location (UCSC) Chr 15: 48.41 – 48.65 Mb Chr 2: 125.14 – 125.35 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Fibrillin-1 is a protein that in humans is encoded by the FBN1 gene, located on chromosome 15. It is a large, extracellular ...
What is Marfan syndrome? This genetic disorder of the connective tissue impacts heart health. Causes long bones. People have long arms, legs.
[1] [2] This disorder is the cause of 20% of thoracic aortic aneurysms [3] [4] Some families affected by this condition have shown mild versions of some symptoms that are associated with Marfan syndrome and Loeys-Dietz syndrome , these signs include tall stature, joint hypermobility , cutaneous stretch marks , and either pectus excavatum or ...
Histopathological image of dissecting aneurysm of the thoracic aorta in a patient without evidence of Marfan syndrome: The damaged aorta was surgically removed and replaced by artificial vessel, Victoria blue and HE stain. The initiating event in aortic dissection is a tear in the intimal lining of the aorta.
The aorta runs through the torso, so symptoms may pop up outside the chest area, per the Cleveland Clinic. Knowing your family's medical history can help you get in the driver's seat when it comes ...
Lincoln sign is the medical sign consisting of excessive popliteal artery pulsation due to hemodynamic effects of aortic regurgitation. [1] This sign is associated with Marfan syndrome , in which aortic root dilation and aortic incompetence are common features.