Connective Issues - Fall 2019

MEDICAL Q&A You Asked, Our Help & Resource Center Answered

During the Annual Conference general medical session, participants were able to submit questions to the panel of experts. Here are a few of the questions with answers provided by Jan Lynch, MSN, RN, the Foundation’s on-staff nurse and director of the Help & Resource Center. With valve-sparing aortic surgery, do you need to take blood thinners? If you having to have valve-sparing aortic surgery, you do not need to take a blood-thinning medication (anticoagulant) after the surgery. In this procedure, the aortic valve is spared (left in place), and the dilated part of the aorta is removed and replaced with a Dacron tube. The aortic valve is sewn into the end of the tube. Because the valve is not replaced, the person is not at risk for forming clots and does not need to take an anticoagulant. Valve-sparing surgery is best performed by a surgeon who has had training and experience in performing it in people with Marfan syndrome and related connective tissue conditions. Valve-sparing surgery is not an option for everyone. Whether or not a person is a candidate depends on the aorta size, whether or not there is damage to the aortic valve, and the amount of leakage from the aortic valve. Is the Z-score or aortic root diameter more reliable marker for treatment/ surgery? Which one is more important? Doctors use the term “Z-score” to describe the size of an aorta. The Z-score is a number that determines how far the aorta’s size is from normal. Z-scores are used because the size of the aorta changes dramatically from childhood to adulthood, and the size measurement alone is not

t Jan Lynch , MSN, RN, director of our Help & Resource Center, answers more than 100 inquiries a week.

diagnosis cannot be determined through clinical evaluation. Single gene testing is the testing of one gene for a mutation, for example, the FBN-1 gene for Marfan syndrome. With multi-gene panel testing, individuals can learn about many inherited mutations at once. One vial of blood can shed light on a spectrum of possible mutations. When someone has features that are not clearly one condition, multi- gene panel testing may be informative in making a differential diagnosis and determining a specific course of medical treatment. A geneticist who is experienced and knowledgeable about Marfan syndrome and related connective tissue conditions reviews the family history and the clinical features of the individual to determine if genetic testing is necessary in the evaluation process. If genetic testing is needed, the decision to perform single gene testing (for example, FBN-1) or multi-gene panel testing, is based upon such factors as the individual’s distinguishing clinical features, family background, and future treatment consideration. When someone has features that are not clearly one condition, multi-gene panel testing may be informative in making a differential diagnosis.

Photo courtesy of Marfan staff

informative unless placed in relation to the individual’s age, as well as height, weight, and gender. Both aortic size measurement and Z-score are important. However, the Z-score is used more often for children because the aorta is still growing and it provides an indication of how large the aneurysm is compared to the body size. This is more valuable information than the actual aortic size, especially when deciding about the timing of preventative aortic surgery. Talk with your doctors about what size aorta is within normal limits for you. What is single gene testing compared to multi-gene panel testing? Some of the features of Marfan syndrome can be found in other related connective tissue conditions; therefore, genetic testing, whether single gene testing or multi-gene testing, may be helpful when a

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