Loeys-Dietz syndrome: one family’s story

Learning to live with this genetic connective tissue disorder

Rosemary Batanjski 1[1]

Dr. Rosemary Batanjski knows firsthand about Loeys-Dietz syndrome (LDS), a genetic disorder that affects the connective tissue in the body and often involves the aorta. She was diagnosed with the syndrome, along with many family members, including her own two children, her sister and two children, as well as her father (who died at age 43), aunt and cousin Nik (who passed away at age 31).

Dr. Batanjski’s grandmother also passed away in her late 40s, although a Loeys-Dietz diagnosis did not exist at the time. In fact, the syndrome was identified only 10 years ago. Until the discovery, many Loeys-Dietz patients were thought to have Marfan syndrome, a similar connective tissue disorder. Continue reading

You’ve been diagnosed with an enlarged aorta: Now what?

enlarged aorta blog

If you’ve been diagnosed with an enlarged aorta, you likely have many questions about your condition: How big is too big? When should I be worried? What does “watchful waiting” mean? Are there any early warning signs before it bursts?

Most of the answers to these questions depend on a variety of factors, including your age and body size, medical history and the position and size of your aorta, among others.

University of Michigan Frankel Cardiovascular Center patient Bob Stephens found he had all of these questions and more when diagnosed with a total of five aortic enlargements.

“It’s awfully scary, but you don’t have a choice,” Bob says. “When I was first told about my condition, it worried me, but I knew the U-M team of doctors was watching me closely, especially my abdominal aortic aneurysm, which was large.” Bob admits that “watchful waiting” can be stressful, but “I knew I had the right people taking care of me.” Continue reading

Do you know your risk for an aortic aneurysm?

There are often no symptoms associated with an aortic aneurysm, so it's important to know your health history

Abdominal aortic aneurysmAn aortic aneurysm generally doesn’t cause symptoms until a patient has a significant problem. Most aortic aneurysms are detected by chance — for example, through an imaging test that was ordered to rule out other health concerns.

This is why it’s so important to know your health history. Does someone in your family have an aneurysm? Has a family member died from an aneurysm or experienced a catastrophic event due to an aneurysm? If so, these are indications that you and members of your family should be tested. The key is to know your risk(s) for an aortic aneurysm to reduce your chances of stroke or sudden death. Continue reading

Marfan Syndrome patient gives back by volunteering

Cardiovascular Health Improvement Project is dedicated to the study of cardiovascular disease

Angela-Rosinski-and-daughter-Areyana-IMG_1456Angela Rosinski was diagnosed with Marfan Syndrome after experiencing an aortic dissection as well as other aortic complications. Her condition and subsequent treatment at the University of Michigan Frankel Cardiovascular Center led her to a decision to give back to U-M by becoming involved in the Cardiovascular Health Improvement Project. The program recruits volunteers to better understand cardiovascular disease and expand treatment for patients.

Angela shares her story:

I was perfectly healthy my entire life — until four years ago, on December 23, when I began to feel that something was very wrong with me. At first, I suspected indigestion, but the feeling continued. After lying down for a while with no results, I called my mom, who could hear the fear in my voice. Continue reading

Pregnancy and heart disease: Making the impossible possible

Doctors advised Marfan Syndrome patient to adopt

SusanDeming

Cardiologists advised Susan Deming to avoid pregnancy because of a weak heart muscle due to a connective tissue disorder known as Marfan Syndrome.

When she was just 17 years old, Susan Deming of Highland, Michigan was advised by cardiologists not to have children. Deming had a condition known as Marfan Syndrome, a connective tissue disorder that meant she would have cardiomyopathy, a weak heart muscle. The risks included her aorta not being able to handle extra blood flow during pregnancy which could lead to an aneurysm causing death.

“At the time, I was young, shocked and didn’t ask questions,” says Deming, who stopped going to the doctor after that appointment.

At age 25, Deming and her husband wanted to start a family. They went to a different cardiologist at another facility hoping for a better outcome. The physician provided a similar outlook and advised the couple to adopt. Deming and her husband eventually adopted two children.

However, at age 30 Deming became pregnant. Her happiness soon became fear as many hospitals would not take her case and some even advised her to terminate the pregnancy. Deming refused and wanted to seek other advice. She was referred to an area dedicated to high risk pregnancies at the University of Michigan Health System, which had experience with pregnancy and heart disease. Here she met with Claire Duvernoy, M.D., a cardiologist who monitored her pregnancy very closely.

Continue reading