Genetics Synthesis Marfan Syndrome Essay - 1514 Words

Marfan Syndrome Marfan Syndrome is an autosomal dominant disorder mainly caused by defects in the gene FBN1 that codes for the protein fibrillin. Approximately 1 in 5,000 people are affected. Cardinal features involve the ocular, musculoskeletal, and cardiovascular systems. There is a high degree of variability of this disorder, sometimes presenting itself at birth or later in childhood or adulthood. On one end of the spectrum is severe neonatal presentation with rapidly progressive disease, while on the other end isolated phenotypic features may be the only presenting signs. Life expectancy, with proper management, approximates to that of the general population. Growth, Development Musculoskeletal attributes: excessive†¦show more content†¦Cardiovascular attributes: Major source of morbidity and mortality, dilation of the aorta, aortic valve insufficiency, predisposition for aortic tear and rupture, mitral valve prolapse with or without regurgitation, tricuspid valve prolapse, and enlargement of the proximal pulmonary artery. Participation in contact sports, competitive sports and isometric exercise should be restricted. Decongestants, caffeine, psychostimulants all should be avoided or used with caution and be approved first by a cardiologist. Bacterial prophylaxis prior to dental procedures expected to contaminate the bloodstream is needed. Pulmonary attributes: spontaneous pneumothorax, reduced pulmonary reserve and sleep apnea. Skin attributes: 2/3 of people with marfan syndrome develop stretch marks often across the lower back and the inguinal and axillary regions due to rapid growth. Stretch marks are typically perpendicular to the axes of growth. Higher risk for hernias due to the defect in connective tissue. Neurological attributes: stretching of the dural sac in the dependent lumbosacral region, resulting in dural ectasia. This can lead to bony erosion and nerve entrapment, postural hypotension and low-pressure headaches. In severe cases, spinal shunting and/or medications are necessary. Reproductive attributes: pregnancy in women with marfan syndrome increases the risk of aortic rupture or dissection, higher rates ofShow MoreRelatedMastering Biology2489 Words   |  10 Pageschromatids 8) Sister chromatids are joined at the _ -centromere 9) Which of the following occurs during interphase? - Chromosome duplication 10) The cell cycle results in the production of ______. - two cells, each with the same amount of genetic material and the same genetic information 11) Which of the following occurs during prophase? - The mitotic spindle begins to form 12) Which of the following is a stage of mitosis? --telophase 13) The correct sequence of stages of mitosis is _____ - prophase, metaphaseRead MoreOsteoporosis Is The Most Common Chronic1725 Words   |  7 Pagesbones (resorption) by secreting enzymes causing holes in the specific area of the bone. Bone formation / synthesis is facilitated by the osteoblasts which differentiate into osteocytes, cells that are being integrated into newly synthesized area of bone. There is a time difference when it comes to resorption versus bone synthesis. Resorption of â€Å"old† bone occurs within weeks whereas bone synthesis requires months. Consequently any process (aging, medicines, and lack of estrogen) that increases the rateRead MoreA Brief Note On Degenerative Joint Disease Commonly Known As Osteoarthritis ( Oa )1723 Words   |  7 Pagescartilage can expose the joint to breakdown and early OA development (7). Congenital and developmental disorders that can lead to OA include congenital dysplasia of the hip, bow leg, Marfan syndrome and many more although account for a low percentage of overall OA incidence (8). There is additionally a positive genetic link for inheriting OA. Several studies have estimated the heritable component of OA to be between fifty and sixty five per cent, especially for the hip and hand (8). A genome studyRead MoreMitral Valve Prolapse2542 Words   |  10 PagesMitral Valve Prolapse Clinical Mitral valve prolapse (MVP) was first characterized by Barlow and Bosman in the 1960s.(Barlow and Bosman) It was first called Barlow’s Syndrome before being called mitral valve prolapse by Criley (Barlow and Bosman),(Criley et al.). Barlow’s syndrome was diagnosed by electrocardiogram, phonocardiogram and chest X-ray.3 The mitral valve apparatus includes tow leaflets, chordae tendineae, anulus, left atrium, papillary muscles and left ventricular wall (Devereux