Purpose: To describe the classical features of Marfan's syndrome to help nurse practitioners (NPs) diagnose it in the early stages of progression and perhaps prevent many of its deleterious effects.
Data sources: Selected research-based articles in the scientific literature and classic medical texts.
Conclusions: The cause of Marfan's syndrome is unknown, but studies have linked it with a disorder of chromosome 15. It is a degenerative connective tissue disorder that affects the musculoskeletal, ocular, integumentary, respiratory, and neurologic systems. The most lethal effect is on the cardiovascular system causing dissecting aortic aneurysms.
Implications for practice: Early diagnosis is essential for a positive course of management. Marfan's syndrome can have fatal consequences and is often underdiagnosed and misdiagnosed.