Marfan syndrome

Article Abstract:

Approximately 100 years ago Antoine Marfan described the case of a young girl with unusual skeletal malformations. The syndrome has been found over the years to be also associated with ocular and cardiovascular defects, including aortic anomalies, which are a frequent cause of death in Marfan patients. The condition runs in families and is inherited in a mendelian dominant fashion (i.e. the gene that causes the condition needs to be present in only one parent for it to be expressed). However, the situation is complicated because the condition is manifested by different signs and symptoms in different people. The first phase of research into Marfan syndrome involved documenting the physical findings of those affected. The second phase focused upon clinical management and treatment of those afflicted. The third phase of research has been the search for the genetic cause of the condition. An article in the October 4, 1990 issue of The New England Journal of Medicine identifies a gene found on the long arm of chromosome 15 as the cause of the disorder. This work has established that for several Finnish families, this genetic defect exists, but due to the heterogeneity of the condition, it would not be surprising to learn that in other family groups, the condition is caused by a defective gene at some other chromosomal site. The defect is associated with a widespread distribution of defective protein, the product of the Marfan gene, throughout the body, making a genetic therapy highly unlikely. There are 25-30,000 victims of the disorder in the United States who could be helped by a cure produced by the rapidly expanding genetic technologies. However, it is unlikely that a single treatment will be found, even for individuals who have different alleles (alternate forms) of the same gene. Any method to correct the defect in the cells of the connective tissue would be essentially impossible, because it would require detecting and correcting the situation at the earliest moments of fetal life. For now the principal advantage of this discovery will be psychological benefit for the patients. (Consumer Summary produced by Reliance Medical Information, Inc.)

Causes of, editorial

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Location on chromosome 15 of the gene defect causing Marfan syndrome

Article Abstract:

Marfan syndrome is an inherited condition that affects the connective tissues of the body and is associated with a large and heterogeneous number of specific medical problems, including skeletal, ocular, and cardiovascular symptoms. The diagnosis of the condition is often difficult because of the various forms of expression of Marfan syndrome. Considerable research efforts have been expended but little is known concerning the specific nature of the genetic defect which leads to Marfan syndrome. The present study presents the results of a four-year study on a group of eight Finnish families affected by Marfan syndrome for at least three generations. Using advanced genetic markers which allowed a chromosomal analysis of the members of these families to be studied, a region on chromosome 15 that carries the defective Marfan gene was identified. This identification may lead to a diagnostic method for determining Marfan syndrome and provide a model for studying genetically inherited conditions that have a variable expression. (Consumer Summary produced by Reliance Medical Information, Inc.)

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Replacement of the aortic root in patients with Marfan's syndrome

Article Abstract:

People with Marfan syndrome and aortic root aneurysms should have their aortic root replaced when the aneurysm is still relatively small. An aneurysm occurs when a blood vessel begins to balloon out because the wall of the vessel has weakened. Researchers analyzed mortality rates in 675 people with aortic root aneurysm, 103 of whom had emergency surgery to replace the aorta and 455 had elective surgery. The 30-day mortality rate was only 1.5% in those who had elective surgery but 11.7% in those who had emergency surgery. Surgery on aneurysms smaller than about three inches provided the best outcome.

Complications and side effects, Surgery, Aortic aneurysms, Aortic aneurysm

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