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[Multidisciplinary practice guideline 'Marfan syndrome'].
1*Namens de werkgroep 'Landelijke multidisciplinaire richtlijn Marfan syndroom' waarvan de leden aan het eind van dit artikel worden genoemd.
Nederlands Tijdschrift Voor Geneeskunde
|December 12, 2013
Summary
Marfan syndrome is a genetic disorder affecting the aorta, eyes, and skeleton. This guideline aids healthcare providers in diagnosing and managing Marfan syndrome using international criteria and multidisciplinary care.
Area of Science:
- Genetics and Medicine
- Cardiovascular Diseases
- Ophthalmology
- Skeletal Disorders
Background:
- Marfan syndrome is a dominant inherited, multi-system disorder impacting the cardiovascular system (especially the aorta), eyes, and skeleton.
- Early and accurate diagnosis is crucial for effective management and preventing severe complications.
Purpose of the Study:
- To provide a comprehensive practice guideline for the recognition, diagnosis, and management of Marfan syndrome.
- To outline referral criteria and processes for patients suspected of or diagnosed with Marfan syndrome.
- To offer recommendations for monitoring and treatment, including lifestyle advice.
Main Methods:
- Diagnosis based on established international criteria, including aortic root dilatation/dissection, ectopia lentis, family history, and FBN1 gene mutation.
- Inclusion of alternative diagnoses for differential diagnosis.
- Recommendations for multidisciplinary team involvement and specialized Marfan syndrome centers.
Main Results:
- The guideline details cardinal diagnostic features of Marfan syndrome.
- It provides specific recommendations for managing Marfan patients during pregnancy and delivery.
- Lifestyle advice, particularly regarding sports activities, is included.
Conclusions:
- Multidisciplinary care in specialized centers is recommended for optimal Marfan syndrome management.
- Adherence to international diagnostic criteria ensures accurate identification of affected individuals.
- The guideline serves as a vital resource for all caregivers involved in Marfan syndrome patient care.
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