Potential Marfan syndrome
- Preferred diagnostic term for patients younger than 20 years presenting with sporadic or familial FBN1 mutation without significantly dilated aortic root measurements (ie, aortic root measurement has not reached z score of 3 or more)
- 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
