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Re: marfan's syndromeFrom: Allan James Fisher (afish04@emory.edu)Fri Mar 1 11:37:51 1996
Marfan syndrome is a autosomal dominant inherited disorder of the fibrillin gene on chromosome 15. The protein product of this gene makes up part of the connective tissue in eyes and vessels. You are right that an echo is absloutely needed in this patient. I also agree that the prognosis is probabily better if the Aortic root is less than 4cm. However, to my knowledge, there is no data to prove this. The most critical time for this person is peripartum and postparum, when there asre wide intravascular fluid shifts and changes of cardiac output. Thus, the second stage needs to be shortened/assisted with little or no valsalva/pushing.The most quoted mortality, yes mortality, rate is 50%. There is a controversy re elective c/s. Generally I do not subscribe to this because of the poorer quality of tissue healing. Some texts even recommend to use retaining sutures. Epidural is generally OK under very specific parameters. The epidural should be continuous, slow initial bolus, and keep the patient very comfortable as to not induce wide variations in her blood pressure. Consult your best anesthiologist She should also be referred to a cardiothoracic surgeon...they like to know on whom they are operating, especially in the middle of the night when the call comes through from the perinatologist. Speaking of which, why didn't you directly refer her to a MFM physician? On to another aspect...since this is autosomal dominant inherited, you need to examine or have a geneticist examine the first degree relatives. Granted, de novo mutations occur, butyou are still obligated to see them or have them seen. I have counselled many patients with Marfan (male and female) and personally taken care of three patients who were pregnant and who were affect with Marfan syndrome.There should be a Marfann clinic in Miami (at the University) that the Medical Genetics folks are attached. I am sure they either know your patient or will help you as much as they can. Allan Fisher, MD Emory University SOM Atlanta, GA Maternal-Fetal Medicine Medical Genetics Fellow
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