Diagnosis and Management of Marfan Syndrome by Anne H. Child

By Anne H. Child

This publication has been written based on the numerous first-class questions posed via our sufferers and their care groups, questions which deserve the best-informed and recent solutions supplied by way of our specialists in all the many future health parts laid low with Marfan syndrome. the purpose of this article is to supply a precis of the current day realizing of analysis, administration and most sensible clinical and surgical procedure of babies, childrens and adults with Marfan syndrome. The authors conceal the lifelong difficulties from beginning to outdated age, in every one affected process. 40 percentage of this knowledge is the results of new cautious study in keeping with a well-defined longitudinally studied united kingdom sufferer population.​

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Morse RP, Rockenmacher S, Pyeritz R, et al. Diagnosis and management of infantile Marfan syndrome. Paediatrics. 1990;86(6):888–95. 5. Amado M, Colado MA, Ferreira R, Lourenço T. Neonatal Marfan syndrome: a successful early multidisciplinary approach. BMJ Case Rep. 2014. Pii: bcr2013202438. 1136/ bcr-2013-202438. 6. Meena JP, Gupta A, Mishra D, Juneja M. Beals-Hecht syndrome (congenital contractural arachnodactyly) with additional craniospinal abnormality: a case report. J Pediatr Orthop B. 2014;24(3):226–9.

No Abstract available. 4. Morse RP, Rockenmacher S, Pyeritz R, et al. Diagnosis and management of infantile Marfan syndrome. Paediatrics. 1990;86(6):888–95. 5. Amado M, Colado MA, Ferreira R, Lourenço T. Neonatal Marfan syndrome: a successful early multidisciplinary approach. BMJ Case Rep. 2014. Pii: bcr2013202438. 1136/ bcr-2013-202438. 6. Meena JP, Gupta A, Mishra D, Juneja M. Beals-Hecht syndrome (congenital contractural arachnodactyly) with additional craniospinal abnormality: a case report.

Echocardiography High quality echocardiography is the mainstay of cardiovascular assessment in the child with Marfan syndrome. This should include an assessment of ventricular systolic function (right and left) and the function of all four valves. Diastolic function 34 G. Stuart should be assessed as it may be impaired and this can occur independent of aortic dilatation [20]. Measurement of the ascending aorta at the level of the aortic sinus and sinotubular junction should be plotted against body surface area and compared with normal centiles [19].

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