Marfan syndrome

J Am Acad Nurse Pract. 2009 Dec;21(12):663-70. doi: 10.1111/j.1745-7599.2009.00461.x.


Purpose: To provide an overview of Marfan syndrome (MFS), including diagnostic criteria, genetic factors involved, emerging theories for treatment, a case study, and an overview of genetic counseling for individuals and families of those with MFS.

Data sources: Selected research, review, and clinical articles.

Conclusions: MFS is a connective tissue disorder with distinct physical characteristics. Recent advances in the field of genetics have traced this disease process to certain gene mutations. Affecting the optical, skeletal and cardiovascular systems, MFS can cause significant morbidity and mortality if left untreated. Close surveillance and early treatment are necessary to ensure a normal life span.

Implications for practice: It is important for the advanced practice nurse (APN) to be aware of the complications in those with MFS. Attentive surveillance can decrease mortality and morbidity associated with this syndrome. A multidisciplinary approach, utilizing the expertize of the APN, is necessary for comprehensive care.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adult
  • Diagnosis, Differential
  • Fibrillins
  • Genetic Counseling
  • Genetic Testing
  • Humans
  • Male
  • Marfan Syndrome* / diagnosis
  • Marfan Syndrome* / epidemiology
  • Marfan Syndrome* / genetics
  • Marfan Syndrome* / therapy
  • Medical History Taking
  • Microfilament Proteins / genetics
  • Mutation / genetics
  • Nurse Practitioners / organization & administration
  • Patient Care Team / organization & administration
  • Pedigree
  • Prognosis


  • Fibrillins
  • Microfilament Proteins