Mrs. R just found today that she is 9 weeks pregnant with her first child. She is elated, but she is also extremely concerned because she has Marfan syndrome and worries how this will affect her unborn child. 1. What is Marfan syndrome? 2. Upon auscultation of her heart, the nurse hears a murmur. What is the significance of this finding based on her history? 3. What other manifestations are typically associated with Marfan syndrome? 4. Mrs. R wants to know how this will affect her pregnancy. 5. Mrs. R wants to know if her baby is going to be born with Marfan syndrome. How will the nurse respond?

1. Marfan syndrome is an inherited disorder that affects connective tissue. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton.

2. A heart murmur is one symptom of Marfan syndrome, and since this syndrome is an inherited disorder, it is possible that Mrs. R's baby has Marfan syndrome.The heart's valves, especially the mitral valve, can be affected by Marfan syndrome. Murmurs appear in Marfan syndrome when blood leaks backward across you heart's valve, increasing the workload for your heart. This abnormal flow can cause heart murmurs.

3. One manifestation of Marfan syndrome is the dilation of the aortic root. Marfan syndrome can cause the aortic valve to become stretched and leak. In addition, arrhythmia may occur in some Marfan syndrome patients. People with Marfan syndrome are usually tall with a slender build, have disproportionately long arms, legs and fingers, a breastbone that protrudes outward or dips inward, a high, arched palate and crowded teeth, extreme nearsightedness, an abnormally curved spine, and or flat feet.

4. While there are tests can show if her child has the gene defect, they can’t indicate how severe the Marfan syndrome will be. For her child, there is not much she can do except practice healthy habits. As for Mrs. R, pregnancy will create extra stress on her heart and blood vessels. The biggest concern for her will be serious complications of the aorta that could cause death or serious injury to both you and your unborn baby. The risk is greatest if your aorta is dilated more than 4 cm. As for delivery, if she has a dilated aorta, she will have a cesarean section. Otherwise, she most likely deliver unassisted.

5. Because the genetic cause of Marfan syndrome is known, her child can be tested for the condition during pregnancy (using amniocentesis) or after birth (with a blood test).