Multisystem Processes & Disorders

{"ops":[{"insert":"Marfan Syndrome"},{"insert":"\n","attributes":{"header":1}},{"insert":"Marfan syndrome is a rare genetic syndrome which affects the connective tissues of the body; it is inherited in an autosomal dominant fashion.\n\nThe prevalence of the condition is estimated to be between 1 in 10,000 to 1 in 20,000 persons.\n\nWhile the pathogenesis of Marfan Syndrome is yet to be fully elucidated, it is known to be caused by mutations in the FBN1 gene, which encodes for the structural protein fibrillin-1.\n\nGiven that fibrillin-1 is a major component of microfibrils (which provide strength and flexibility to connective tissue), the resultant lower levels of the protein have a deleterious effect on the connective tissues of the body.\n\nThe heart, aorta, eye, skeletal system, dural sac, and lungs are the organs most affected by the disease; note however, that the severity varies significantly between persons.\n"},{"insert":"Pregnancy and Marfan Syndrome"},{"insert":"\n","attributes":{"header":1}},{"insert":"In women with Marfan Syndrome, pregnancy is associated with significant rates of maternal, fetal, and neonatal complications.\n\nOne of the most important maternal complications is acute aortic dissection, for which women with pre-existing aortic root dilation are at increased risk; patients may also experience rapid aortic dilation.\n\nNote that the aforementioned complications can occur at any time during pregnancy, or even during the postpartum period; however, they are most common in the third trimester.\n\nTherefore, effective preconception evaluation and counselling is a must, as is meticulous surveillance during pregnancy, delivery, and the puerperium by an experienced multidisciplinary team.\n"}]}

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