Diagnosis and prognosis of mitral-valve prolapse
Article Abstract:
Mitral-valve prolapse is a common, and sometimes serious, disorder of the heart valves in which the cusp (leaf-like portion) of the mitral valve slip forward and out of place. This disorder is prevalent in about 4 percent of the general population. Diagnosis of the condition is inconsistent; however, ultrasonography (US) remains an ideal technique for visualizing multiple views of the shape and motion of the mitral valve. An evaluation of the US methods of diagnosis has been complicated by the fact that no clinically observable abnormality occurs consistently and uniquely in patients with mitral-valve prolapse, and thus comparison of imperfect diagnostic methods must result. Ideally, the criteria used for the diagnosis of a condition should be rooted in its cause and predictive of its outcome. Some research suggests that US assessment of mitral-valve characteristics may allow a more accurate prediction of the risk of complications than is provided by either an analysis of demographic statistics or the clinical detection of mitral regurgitation, in which blood flows back through the valve. However, this conclusion must be regarded as tentative because of several limitations, the most important of which may be that most available studies demonstrate that prolapsed mitral valves are thickened and enlarged when complications occur, making it impossible to determine whether these abnormalities precede, and thus predict, potentially preventable problems or whether they simply represent "wear and tear" phenomena that can be detected by simpler methods. The identification by two-dimensional US of patients with mitral-valve prolapse and mitral valvular enlargement and thickening confirms the findings of other methods, and may someday supplant them.
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 1989
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Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5
Article Abstract:
The related genetic disorders Marfan syndrome, ectopia lentis and congenital contractural arachnodactyly may be caused by mutations in the gene for fibrillin. Fibrillin is a glycoprotein that occurs in many different types of tissues. Genetic linkage studies of 28 families with Marfan syndrome found that the syndrome was caused by mutations in the gene for fibrillin on chromosome 15. Similar studies of eight families with related genetic disorders found that ectopia lentis was caused by mutations in the fibrillin gene on chromosome 15, and congenital contractual arachnodactyly by abnormalities in the fibrillin gene on chromosome five. The genetic disorder mitral-valve prolapse was not linked to the fibrillin gene on chromosome five, and annuloaortic ectasia was not linked to the fibrillin gene on chromosomes five or 15.
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 1992
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Aortic disease in Marfan's syndrome
Article Abstract:
Advances in the treatment of aortic aneurysms in people with Marfan syndrome has dramatically extended their lives. Aortic aneurysm occurs when the aortic begins to balloon out because the walls of the aorta have become weak. It is a common complication of Marfan syndrome. A 1999 study found that replacing the aorta in the area of the aneurysm effectively prolonged life. Postoperative mortality rates were low, especially in patients whose aneurysm had not ruptured. Drugs to lower blood pressure can reduce the strain on the aorta and diagnostic imaging can identify aneurysms before they rupture.
Publication Name: The New England Journal of Medicine
Subject: Health
ISSN: 0028-4793
Year: 1999
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