Marfan syndrome.
OBJECTIVE
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.


METHODS
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.


CONCLUSIONS
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.
Gonzales
Elizabeth A
EA
Methodist Sugar Land Hospital, Sugar Land, Texas, USA. bettygonzales@yahoo.com
D000328:Adult; D003937:Diagnosis, Differential; D000071837:Fibrillins; D005817:Genetic Counseling; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics / Q000628:therapy; D008487:Medical History Taking; D008840:Microfilament Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics; D009722:Nurse Practitioners / Q000458:organization & administration; D010348:Patient Care Team / Q000458:organization & administration; D010375:Pedigree; D011379:Prognosis
D000071837:Fibrillins; D008840:Microfilament Proteins