Clinical consult: Marfan syndrome

Prim Care. 2004 Sep;31(3):739-42, xii. doi: 10.1016/j.pop.2004.04.005.

Abstract

Marfan syndrome is a heritable disorder of connective tissue. This relatively common genetic condition affects approximately 2 to 3 per 10,000 individuals, without a particular gender, racial, geographic,or ethnic predilection. If unrecognized, patients with Marfan syndrome can have life-threatening cardiovascular complications. Identification and proper management of the disorder can improve the prognosis greatly, however, and extend the patient's life span. This article presents a case study of Marfan syndrome, describing disease characteristics and natural history, inheritance and genetics, diagnosis,differential diagnosis, and management.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Adolescent
  • Diagnosis, Differential
  • Heart Murmurs / etiology
  • Humans
  • Male
  • Marfan Syndrome* / diagnosis
  • Marfan Syndrome* / genetics
  • Marfan Syndrome* / therapy
  • Primary Health Care
  • Referral and Consultation