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Marfan syndrome: identification and management
1Jewish Hospital, College of Nursing and Allied Health, St. Louis, MO, USA.
Medsurg Nursing : Official Journal of the Academy of Medical-Surgical Nurses
|July 20, 1999
Summary
Marfan's syndrome is a genetic disorder affecting multiple body systems, often leading to underdiagnosis. Recognizing and managing its varied symptoms is crucial for nurses due to potentially fatal outcomes.
Area of Science:
- Genetics and наследственные заболевания
- Cardiology
- Ophthalmology
- Rheumatology
Background:
- Marfan syndrome is an autosomal dominant genetic disorder.
- It affects the cardiovascular, musculoskeletal, and ocular systems.
- The condition exhibits significant variability in symptoms and disease progression.
Purpose of the Study:
- To highlight the underdiagnosis and misdiagnosis of Marfan syndrome.
- To emphasize the importance of recognizing and managing Marfan syndrome symptoms.
- To inform advanced practice and adult health nurses about Marfan syndrome.
Main Methods:
- This study is a review of current medical literature.
- It synthesizes information on Marfan syndrome's presentation and management.
- Focuses on the role of nurses in patient care.
Main Results:
- Marfan syndrome is frequently underdiagnosed and misdiagnosed due to its variable presentation.
- Delayed diagnosis can lead to severe health complications.
- Early recognition and intervention are critical for patient outcomes.
Conclusions:
- Advanced practice and adult health nurses must be equipped to identify Marfan syndrome.
- Effective management of Marfan syndrome requires a multidisciplinary approach.
- Timely diagnosis and management can mitigate the fatal consequences of Marfan syndrome.