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JCS Dean
Journal Issue: 
Volume 37: Issue 3: 2007




The diagnosis of Marfan syndrome requires a multidisciplinary assessment including clinical genetics, cardiology, ophthalmology, and radiology.  It is caused by mutation  in  the  fibrillin  1  gene  on  chromosome  15. Gene  testing  remains problematic, as current techniques fail to find a mutation in 10–30% of cases, while a  small  number  of  non-Marfan  patients  (often  with  MASS  –  mitral  valve  prolapse, mild  non-progressive aortic  dilatation, skin  and skeletal  features  –  phenotype)  do have mutations.  The diagnosis remains clinical and is based on the Ghent criteria. Beta-blockers  or  angiotensin-converting  enzyme  inhibitors  slow  the  rate  of  aortic dilatation.  Prophylactic aortic root surgery should be considered when the aortic root exceeds 5·5 cm at the sinus of Valsalva.  Marfan patients require regular follow-up  including  aortic  root  measurement, usually  by  transthoracic  echocardiography. Lens  dislocation  is  not  universal  in  Marfan, but  expert  ophthalmology  assessment,
especially  in  childhood, is  advisable.  Arthralgia  and  other  skeletal  symptoms  are common, and associated with joint hypermobility. Respiratory complications include recurrent  pneumothorax  and  sleep  apnoea.   Patients  should  be  advised  to  avoid contact  sports  and  scuba  diving.  There  is  an  increased  risk  of  aortic  dissection  in pregnancy, particularly  when  the  aortic  root  diameter  exceeds  4  cm.   Younger patients should be assessed in the neonatal period, pre-school, at age 10, and at age
18  if  they  have  some  Marfan  features, but  fail  to  meet  the  Ghent  criteria  by  one system, or if they have a family history of Marfan syndrome.