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.
Grimes
Sarah J
SJ
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
Acheson
Louise S
LS
Matthews
Anne L
AL
Wiesner
Georgia L
GL
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