What are the main diagnostic criteria for Marfan syndrome?
Overview. The major criteria for diagnosis of Marfan syndrome are ectopia lentis, aortic root dilation/dissection, dural ectasia, or a combination of more than 4 out of 8 major skeletal features.
What is the triad of Marfan syndrome?
The classic diagnosable triad of Marfan syndrome would be dislocated ocular lenses, aortic root dilation and abnormally long limbs.
How do you evaluate Marfan syndrome?
A blood test can be used to help diagnose Marfan syndrome. This blood test is highly specialized and looks for changes in FBN1, the gene that is responsible for most cases of Marfan syndrome. Genetic counseling should accompany genetic testing because FBN1 testing is not always straightforward.
What are the cardinal features of Marfan syndrome?
Cardinal manifestations include proximal aortic aneurysm, dislocation of the ocular lens, and long-bone overgrowth. Important advances have been made in the diagnosis and medical and surgical care of affected individuals, yet substantial morbidity and premature mortality remain associated with this disorder.
What murmur is associated with Marfan’s?
Mitral valve prolapse increases the workload on the heart and may cause shortness of breath, feeling overly tired, or palpitations (fluttering in the chest). The abnormal flow may cause a heart murmur, which can be heard with a stethoscope. Over time, the heart may enlarge and heart failure may occur.
Are there different levels of Marfan syndrome?
The symptoms of Marfan syndrome differ from one person to the next, depending on which body part is affected and to what degree. Some people may not even realise they have the condition, because their features are either mild or not obvious.
What causes mitral valve prolapse in Marfan’s syndrome?
In patients with MVP, myxomatous degeneration of the leaflets and chordae results in leaflet thickening and redundancy, causing the leaflets to prolapse, or flop backwards, into the left atrium (detail). This sometimes allows leakage of blood through the mitral valve (mitral regurgitation).
What is the difference between Ehlers Danlos and Marfan syndrome?
Differential diagnosis EDS should be distinguished from Marfan syndrome (MFS), the clinical and molecular features of which are discussed below. In EDS, the skin fragility is more prominent, and joint hypermobility is usually more severe.
Does Marfan cause mitral valve prolapse?
MVP is generally sporadic but is also associated with a variety of congenital disorders of connective tissue including Marfan syndrome, Ehler-Danlos syndrome, osteogenesis imperfecta, dominant cutis laxa pseudoxanthoma elasticum, and the MASS syndrome (mitral valve prolapse, aortic root dilatation, skeletal changes.
What are the diagnostic criteria for Marfan syndrome?
In the presence of family history: A systemic score ≥ 7 points AND Family History of Marfan syndrome (as defined above) = Marfan syndrome – A systemic score of greater than or equal to 7 points and a family history of Marfan syndrome (as defined in 1-4 above) is sufficient for a diagnosis of Marfan syndrome.
How can paediatricians manage the cardiovascular complications of Marfan’s syndrome?
In managing the cardiovascular complications of Marfan’s syndrome, the paediatrician has to walk a difficult path. On the one hand, restrictive lifestyle advice and drugs may need to be prescribed, often in the context of a family history of major surgery or even sudden death.
What are the treatment options for Marfan’s syndrome?
There are no large, randomised controlled trials of medical treatment in Marfan’s syndrome. Despite this, four categories of drugs have been used to delay or prevent aortic root dilatation: β‐blockers, calcium antagonists, angiotensin converting enzyme inhibitors and, most recently, angiotensin‐receptor blockers.
What are the psychosocial issues associated with Marfan syndrome?
The diagnosis of Marfan’s syndrome itself, with its increased mortality and morbidity also raises psychosocial issues, and the early involvement of clinical psychologists and support groups such as The Marfan Association UK can help in many cases. Risk stratification Risk stratification in children is difficult.