Nonspecific connective tissue disorder

Nonspecific connective tissue disorder

  • Preferred diagnostic term for patients younger than 20 years presenting with Ghent systemic system score less than 7 and/or borderline aortic root measurements (ie, z score less than 3) without an associated FBN1 mutation
  • May represent emerging Marfan syndrome
  • Differentiate from Marfan syndrome by clinical course with serial physical and ophthalmologic examinations to assess for emergence of additional phenotypic features of Marfan syndrome and echocardiographic monitoring to evaluate for increasing aortic root dimensions
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