Clinical consult: Marfan syndrome.
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.
Center for Human Genetics, Case Western Reserve University, University Hospitals of Cleveland, 11100 Euclid Avenue, LKS 1500, Cleveland, OH 44106, USA. sarah.grimes@uhhs.com
Sarah J
SJ
Grimes
Louise S
LS
Acheson
Anne L
AL
Matthews
Georgia L
GL
Wiesner
D000015:Abnormalities, Multiple / Q000175:diagnosis; D000293:Adolescent; D003937:Diagnosis, Differential; D006337:Heart Murmurs / Q000209:etiology; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D011320:Primary Health Care; D012017:Referral and Consultation