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[Marfan syndrome]
Guillaume Jondeau1, Gabriel Delorme, Chabnam Guiti
1Consultation multidisciplinaire Marfan et service de cardiologie Hôpital Ambroise Paré 92100 Boulogne. guillaume.jondeau@apr.ap-hop-paris.fr
Abstract:
Marfan syndrome is a genetic illness, generally linked to an anomaly in fibrillin type 1, which is transmitted in an autosomally dominant fashion. Its diagnosis is sometimes difficult and should always be evoked in the face of a non-atheromatous aneurysm of the ascending aorta, lead to family screening in the search for aneurysms in any relatives, and an ophthalmological and rheumatological examination in the search for extracardiac signs. The diagnosis made, the dilatation of the aorta can be limited by proscribing violent sports and prescribing beta-blockers. The diameter of the ascending aorta should be measured with an annual ultrasound in order to propose a surgical replacement of the ascending aorta, before a complication (above all aortic dissection) arises.
Insights
Marfan syndrome, a genetic disorder affecting fibrillin-1, requires early diagnosis through aortic screening and examinations. Management includes lifestyle changes, medication, and regular monitoring to prevent aortic dissection.
Area of Science:
- Genetics
- Cardiology
- Rheumatology
- Ophthalmology
Context:
- Marfan syndrome is an autosomal dominant genetic disorder.
- It is associated with abnormalities in fibrillin-1.
- Diagnosis can be challenging, often requiring a high index of suspicion.
Purpose:
- To highlight the diagnostic challenges of Marfan syndrome.
- To emphasize the importance of early detection and screening for aortic aneurysms.
- To outline management strategies for Marfan syndrome patients.
Summary:
- Marfan syndrome diagnosis involves recognizing non-atheromatous ascending aortic aneurysms and performing family screening.
- Extracardiac signs should be evaluated through ophthalmological and rheumatological examinations.
- Management focuses on preventing aortic complications through lifestyle modifications, beta-blockers, and regular aortic diameter monitoring.
Impact:
- Early diagnosis and intervention can prevent life-threatening aortic dissection.
- Regular monitoring allows for timely surgical repair of the ascending aorta.
- Comprehensive evaluation ensures management of systemic manifestations.