DIFFICULTIES IN DIAGNOSING MARFAN SYNDROME-FAMILY CASE REPORT
DOI:
https://doi.org/10.46793/PP160426012CKeywords:
Marfan syndrome, genetic diseaseAbstract
Introduction. Marfan syndrome is an inherited disorder of the connective tissue. It is an autosomal-dominant disorder. The incidence is 1/10 000-20 000. The disease is caused by mutation in the gene encoding the structure of fibrillin and the elastic fibers of connective tissue. Responsible gene is called fibrillin-1 or FBN1. Mutation of the gene fibrillin-1 (FBN1) has been located on chromosome 15 q 21.1. As a result, many systems and organs are affected : heart, blood vessels, bones, tendons, cartilage, eyes, nervous system, skin and lungs. Marfan syndrome is manifested in different ways in children, and therefore life is not the same for everyone. Some children have severe symptoms that need extensive medical approach while the others have mild symptoms which do not need regular check ups and medical aid.
Case report. Marfan syndrome family has been presented.The father was diagnosed on a military service examination. The son was diagnosed at infancy although he was treated as cerebral palsy (the result of hard labor) before the diagnosis was defined.
Conclusion. Marfan syndrome is difficult to be identified at birth. Extremelly tall children deserve special caution for specific diagnosis.
References
Groth KA, Hove H, Kyhl K, Folkestad L, Gaustadnes M, Vejlstrup N, Stochholm K, Østergaard JR, Andersen NH, Gravholt CH. Prevalence, incidence, and age at diagnosis in Marfan Syndrome. Orphanet J Rare Dis. 2015; Dec 2;10:153.
Verstraeten A, Alaerts M, Van Laer L, Loeys B. Marfan Syndrome and Related Disorders: 25 Years of Gene Discovery. Hum Mutat. 2016; Jun;37 (6):524-31.
Belsing TZ, Lund AM, Abildstrøm SZ, Søndergaard L, Friis-Hansen L. Molecular biological aspects of Marfan syndromes. Ugeskr Laeger Jurnal. 2011; Jan 31;173(5):333-7.
Pyeritz RE. Recent progress in understanding the natural and clinical histories of the Marfan syndrome. Trends Cardiovasc Med. 2016; Jan 13.
HC Dietz, RE Pyeritz. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. Human Molecular Genetics. 2015; 24.
Maeda J, Kosaki K, Shiono J, Kouno K, Aeba R, Yamagishi H. Variable severity of cardiovascular phenotypes in patients with an early-onset form of Marfan syndromeharboring FBN1 mutations in exons 24-32. Heart Vessels. 2016; 21.
Cobben JM, Oostra RJ, van Dijk FS. Pectus excavatum and carinatum. Eur J Med Genet. 2014; 57(8):414-417.
Trifirò G, Marelli S, Viecca M, Mora S, Pini A. Areal bone mineral density in children and adolescents with Marfan syndrome: evidence of an evolving problem. Bone. 2015; 73:176-180.
Kumar A, Agarwal S. Marfan syndrome: An eyesight of syndrome. Meta Gene. 2014; 14;2:96-105.
Latasiewicz M, Fontecilla C, Millá E, Sánchez A. Marfan syndrome: ocular findings and novel mutations-in pursuit of genotype-phenotype associations. Can J Ophthalmol. 2016; 51(2):113-118.
Gritti A, Pisano S, Catone G, Iuliano R, Salvati T, Gritti P. Psychiatric and neuropsychological issues in Marfan syndrome: A critical review of the literature. Int J Psychiatry Med. 2015; 50(4):347-360.
Coulon C. Thoracic aortic aneurysms and pregnancy. Presse Med. 2015; 44 (11):1126-1135.
Muiño Mosquera L, De Backer J. Managing aortic aneurysms and dissections during pregnancy.Expert Rev Cardiovasc Ther. 2015;13(6):703-714.
Haller G, Alvarado DM, Willing MC, Braverman AC, Bridwell KH, Kelly M, Lenke LG, Luhmann SJ, Gurnett CA, Dobbs MB. Genetic Risk for Aortic Aneurysm in Adolescent Idiopathic Scoliosis. J Bone Joint Surg Am. 2015; 2; 97(17):1411-1417.
Franken R, Groenink M, de Waard V, Feenstra HM, Scholte AJ, van den Berg MP, Pals G, Zwinderman AH, Timmermans J, Mulder BJ. Genotype impacts survival in Marfan syndrome. Eur Heart J. 2016; 18.
Child AH, Aragon-Martin JA, Sage K. Genetic testing in Marfan syndrome. Br J Hosp Med. 2016; 77(1):38-41.
Von De Backer J, Schüler H, Bannas P, Behzadi C, Bernhardt AM, Hillebrand M, Fuisting B, Sheikhzadeh S, Rybczynski M, Kölbel T, Püschel K, Blankenberg S, Robinson PN. Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome. Appl Clin Genet. 2015; 16, 8:137-155.
Franken R, den Hartog AW, Radonic T, Micha D, Maugeri A, van Dijk FS, Meijers-Heijboer HE, Timmermans J, Scholte AJ, van den Berg MP,Groenink M, Mulder BJ, Zwinderman AH, de Waard V, Pals G. Beneficial Outcome of Losartan Therapy Depends on Type of FBN1 Mutation in Marfan Syndrome. Circ Cardiovasc Genet. 2015;8 (2):383-388.
