Marfan's Disease
Marfan's syndrome is an autosomal dominant inherited abnormality which has been localized to a mutation in Chromosome 15. Cardiovascular features include mitral valve prolapse, mitral regurgitation, aortic insufficiency, and aortic root dilation which can progress or be complicated by dissection. The mean age for cardio- vascular events is 32 years.
Small retrospective studies suggest an increased risk of aortic dissection in women with Marfan's syndrome who become pregnant. In women with preconception aortic dilation, greater risk is due to the changes of cardiac output and plasma volume that occur by the 6th week of pregnancy and the increased stress during labor. Vaginal delivery is acceptable in patients with Marfan's and epidural anesthesia may be helpful in lowering the blood pressure at delivery. However if the aortic root is greater than 4 cm a cesarean section should be considered.
Marfan's Disease
Clinical:
Echocardiography has proven useful to screen for preconception aortic dilatation to identify women with Marfan's at higher risk for aortic complication. If the aortic root is less than 4 cm , the risk of a life threatening aortic event during pregnancy appears to be at baseline for all women. The rate of aortic dissection dramatically increases if the aortic root is greater than 5.5 cm. Monthly transthoracic echocardiography while pregnant is useful to monitor for progressive aortic root dilatation, which may be a precursor to aortic dissection.
Long-term therapy with beta-blockers to control hypertension has been shown to slow the rate of aortic dilatation in patients with Marfan's syndrome. Beta-blockers can be used safely from mid-trimester until labor particularly if there is evidence of aortic dilatation.
Animation of long axis of the left ventricle showing mitral valve prolapse typical of
Marfan's.
M-mode of the mitral valve shows the profound late - systolic prolapse found in typical
Marfan's.
Long axis view of the LV and mitral valve showing the prolapse found in many patients with Marfan's. Also note the slight prominence of the ascending aorta and effacement of the sino - tubular junction.
Long axis CDI view of the LV and mitral valve showing the mitral regurgitation that results from the prolapse found in many patients with
Marfan's.
Labelled (left) and same unlabelled (right) long axis LV view that shows the relative dilation of the proximal ascending aorta with the rounded effacement of the sino-tubular junction at the superior aspect of the sinus of
valsalva.
Color doppler imaging and conventional 2D image (right) from suprasternal notch showing the relative dilation of the proximal ascending aorta which returns to normal a diameter in the descending limb.
Bilateral prolase
