Diagnosis and Management (Summary)

  • Anne H. Child


In my personal experience, when a patient, whether child or adult, is referred with the possibility of a diagnosis of Marfan syndrome, they are assessed after echocardiogram, from a cardiovascular genetic point of view using the following approach.


ADAMTS18 ADAMTSL4 Adolescent idiopathic scoliosis Antibiotic Congenital contractural arachodactyly Contractures Death certificates Diagnostic pathway Ectopia Lentis Ehlers-Danlos Endocarditis Family history FTAAD Genotype-phenotype correlation Ghent criteria Homocystinuria Joint hypermobility Management Overgrowth Psychological Reduced penetrance Sotos syndrome Striae 


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Copyright information

© Springer-Verlag London 2016

Authors and Affiliations

  1. 1.Cardiovascular and Cell Sciences Research InstituteSt George’s, University of LondonLondonUK

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