Marfan's syndrome

(Antonin Bernard Jean Marfan, 18581942, French paediatrician) autosomal dominant abnormality of the extracellular matrix of connective tissue with involvement of the eye, and musculoskeletal and cardiovascular systems. The diagnostic criteria consist of either a family history plus phenotypic features in the skeletal and one other organ system or negative family history and manifestations in the skeletal and two other organ systems. The cardinal manifestations are tall stature with long limbs and fingers, ectopia lentis, dural ectasia, pectus excavatum, mitral valve prolapse, aortic dilatation and aortic dissection. The most frequent cardiovascular abnormalities are mitral valve prolapse and dilatation of the sinuses of Valsalva with or without aortic regurgitation. Surgical replacement of the proximal ascending aorta is generally performed for a maximal aortic root diameter of 5.05.5 cm.

Chest X-ray demonstrates elongated thorax, pectus deformity and proximal aorta dilatation or aneurysm. Echocardiography is employed for the diagnosis and assessment of the severity of mitral valve prolapse and for monitoring left ventricular volumes and function. Doppler colour flow mapping and cine MRI can be used to identify and assess the severity of mitral and aortic regurgitation. CT and MRI are done at regular intervals to monitor the dimensions of the thoracic aorta and for the diagnosis of aortic dissection. Both demonstrate the characteristic dilatation of the sinuses of Valsalva and proximal ascending aorta, often called the marfanoid or "pear-shaped" aorta (Fig.1).

CBH