Challenges in the diagnosis of Marfan syndrome.
Marfan syndrome (MFS) is a multisystem disorder of connective tissue that is inherited in an autosomal dominant fashion, and results from mutations in the FBN1 gene on chromosome 15. Diagnosis is challenging as it requires definition of diverse clinical features and input from a variety of specialists. Genetic testing of FBN1 is time consuming, expensive and complex, and may not solve the diagnostic dilemma. Failure to make a diagnosis or making an inappropriate diagnosis of MFS has social, lifestyle and medical consequences for the individual as well as the family.
Summers
Kim M
KM
School of Molecular and Microbial Sciences, The University of Queensland, Brisbane, QLD, Australia. k.summers@uq.edu.au
West
Jennifer A
JA
Peterson
Madelyn M
MM
Stark
Denis
D
McGill
James J
JJ
West
Malcolm J
MJ
D000328:Adult; D001011:Aorta / Q000503:physiopathology; D002648:Child; D004108:Dilatation, Pathologic / Q000175:diagnosis / Q000209:etiology; D005260:Female; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D006712:Homocystinuria / Q000097:blood / Q000175:diagnosis / Q000209:etiology; D006801:Humans; D007906:Lens Subluxation / Q000175:diagnosis / Q000209:etiology; D008297:Male; D008382:Marfan Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics* / Q000628:therapy; D008487:Medical History Taking / Q000379:methods; D008875:Middle Aged; D009140:Musculoskeletal Diseases / Q000175:diagnosis / Q000209:etiology; D010641:Phenotype