Anticipatory Guidance in Marfan Syndrome

OptionAt Diagnosis0–12 mo1–5 y6–12 ya13–18 ya19–22 y
Cardiac examinationbEach visitEach visitEach visitYearlyYearly
 EchocardiogramAs indicatedYearlyYearlyYearlyYearly
Ocular (ophthalmology)YearlyYearlyYearlyYearly
 Scoliosis clinical examinationEach visitYearlyEvery 6 moEvery 6 moYearly
 Joint laxityEach visitYearlyEvery 6 moEvery 6 mo
 Pectus deformityEach visitYearlyEvery 6 moEvery 6 mo
 Bone agec
Review diagnosisPRNPRNPRNdPRNdPRNd
Examine family membersPRNPRNPRNPRNPRN
Support group informationPRNPRNPRNPRNPRN
Genetic counselingee
TransitionDiscuss plansBegin transition
  • Many systems should be reviewed regularly at developmentally appropriate stages. PRN, as needed.

  • a Periods of rapid growth require closer supervision.

  • b If abnormal results on examination, refer for further evaluation. Follow-up evaluations as indicated.

  • c Bone age determination in preadolescence. If large discrepancy between bone age and height age, hormonal therapy should be considered.

  • d Review symptoms of potential catastrophic events such as aortic dissection, vision changes, and pneumothorax.

  • e Discuss reproductive and pregnancy risks.

  • f Review physical activity restrictions/lifestyle modifications.