Abstract
Reaction to medical, social, and genetic implications of Marfan syndrome was evaluated by means of two questionnaires, the first after various tests before discussion of the diagnosis, the second after full discussion of the patient's diagnosis. Thirty-seven members of a family known to be at risk for Marfan syndrome attended for both questionnaires. All patients claimed to be satisfied with the way they were informed of the results of screening; 41% of patients were more worried about their health and 48% were more worried about the future after diagnosis. Apart from 50% of the smokers reducing or stopping their intake of cigarettes there were only very minor changes in lifestyle over the first month despite the increased level of expressed anxiety. If a definitive screening test was available, 96% of patients claimed they would have chosen it, 45% felt it would have an influence on their future plans, and 78% would choose to use a method of prenatal diagnosis for Marfan syndrome if it were available.
Full text
PDF
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Bridges A. B., Faed M., Boxer M., Haining W. M., Pringle T. H., McNeill G. P. Marfan syndrome affecting four generations of a family without ocular involvement. Postgrad Med J. 1991 Jun;67(788):538–542. doi: 10.1136/pgmj.67.788.538. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Child A. H. Diagnosing Marfan's syndrome. Br Med J (Clin Res Ed) 1988 Jun 11;296(6637):1673–1674. doi: 10.1136/bmj.296.6637.1673-b. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Geva T., Hegesh J., Frand M. The clinical course and echocardiographic features of Marfan's syndrome in childhood. Am J Dis Child. 1987 Nov;141(11):1179–1182. doi: 10.1001/archpedi.1987.04460110049020. [DOI] [PubMed] [Google Scholar]
- Hollister D. W., Godfrey M., Sakai L. Y., Pyeritz R. E. Immunohistologic abnormalities of the microfibrillar-fiber system in the Marfan syndrome. N Engl J Med. 1990 Jul 19;323(3):152–159. doi: 10.1056/NEJM199007193230303. [DOI] [PubMed] [Google Scholar]
- Kainulainen K., Pulkkinen L., Savolainen A., Kaitila I., Peltonen L. Location on chromosome 15 of the gene defect causing Marfan syndrome. N Engl J Med. 1990 Oct 4;323(14):935–939. doi: 10.1056/NEJM199010043231402. [DOI] [PubMed] [Google Scholar]
- Lee B., Godfrey M., Vitale E., Hori H., Mattei M. G., Sarfarazi M., Tsipouras P., Ramirez F., Hollister D. W. Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature. 1991 Jul 25;352(6333):330–334. doi: 10.1038/352330a0. [DOI] [PubMed] [Google Scholar]
- Marsalese D. L., Moodie D. S., Vacante M., Lytle B. W., Gill C. C., Sterba R., Cosgrove D. M., Passalacqua M., Goormastic M., Kovacs A. Marfan's syndrome: natural history and long-term follow-up of cardiovascular involvement. J Am Coll Cardiol. 1989 Aug;14(2):422–431. doi: 10.1016/0735-1097(89)90197-6. [DOI] [PubMed] [Google Scholar]
- Marteau T. M. Screening in practice: Reducing the psychological costs. BMJ. 1990 Jul 7;301(6742):26–28. doi: 10.1136/bmj.301.6742.26. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Pyeritz R. E., McKusick V. A. The Marfan syndrome: diagnosis and management. N Engl J Med. 1979 Apr 5;300(14):772–777. doi: 10.1056/NEJM197904053001406. [DOI] [PubMed] [Google Scholar]
- Super M. Diagnosing Marfan syndrome. Br Med J (Clin Res Ed) 1988 May 14;296(6633):1347–1347. doi: 10.1136/bmj.296.6633.1347. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Tsipouras P., Sarfarazi M., Devi A., Weiffenbach B., Boxer M. Marfan syndrome is closely linked to a marker on chromosome 15q1.5----q2.1. Proc Natl Acad Sci U S A. 1991 May 15;88(10):4486–4488. doi: 10.1073/pnas.88.10.4486. [DOI] [PMC free article] [PubMed] [Google Scholar]