Association of mitral valve prolapse and systemic abnormalities of connective tissue: a phenotypic continuum

Article Abstract:

More than half of the patients evaluated in one clinic for a possible diagnosis of an inherited disorder of connective tissues did not fit into any existing disease category. However, they all had considerable evidence of a systemic defect of the matrix that surrounds the connective tissue cells. As a group, these patients had many problems similar to Marfan syndrome, including long limbs, deformity of the chest, pinkish stripes of damaged tissue on the trunk, failure of the heart's mitral valve, and mild dilation of the aorta where it joins the heart. The physical characteristics of the patients did not form groups; rather, the patients's problems existed on a continuum, with Marfan syndrome at one end and isolated mitral valve prolapse due to tumors made of primitive connective tissue at the other. In the absence of biochemical or genetic markers, it will remain hard to tell whether a patient with mitral valve failure and mild aortic root dilation has Marfan syndrome or some other heritable disorder of connective tissue. Until a classification based on clinical characteristics, genetic abnormalities, and laboratory test results is devised, these patients are best described as having an 'overlapping' inherited connective tissue disorder. The acronym 'MASS' is suggested to emphasize involvement of the mitral valve, aorta, skeleton, and skin.

Abnormalities, Identification and classification, Genetic disorders, Connective tissue diseases, Extracellular matrix, Mitral valve prolapse, Marfan syndrome

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Report Card on Molecular Genetic Testing: Room For Improvement?

Article Abstract:

Professional and governmental standards for diagnostic laboratories can give doctors and patients confidence in their results. Now that many diseases have been linked to a gene mutation, molecular genetic testing is frequently done in these labs. This usually involves analyzing DNA. A 1999 survey found that many labs did not meet standards proposed by the American College of Medical Genetics. However, this does not prove that their testing was inaccurate. There is no evidence that serious diagnostic errors are being made by these labs. Standards set by professional societies may be more effective than governmental regulations.

Standards, Evaluation, Genetic screening, Genetic testing, Diagnosis, Laboratory, Laboratory diagnosis

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The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2

Article Abstract:

The diagnostic criteria for neurofibromatosis 1 and 2 have been updated. The new criteria include the use of magnetic resonance imaging (MRI), which was not available when the first guidelines were published in 1987. Neurofibromatosis 1 and 2 are caused by mutations in tumor suppressor genes. Consequently, patients who have the mutation develop benign and malignant tumors. The large number of mutations makes it unlikely that genetic screening would be cost-effective. Both diseases can be diagnosed best by a physical exam and history. Surgical removal of individual tumors is the only treatment.

Neurofibromatosis

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