Loeys-Dietz syndrome: one family’s story

Learning to live with this genetic connective tissue disorder

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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.

What is Loeys-Dietz syndrome?

Individuals with Loeys-Dietz syndrome exhibit a variety of medical features, including vascular, craniofacial and skeletal characteristics. However, not all individuals who carry the LDS gene have these classic physical characteristics, making the syndrome difficult to diagnose based on a physical exam. Family history, the presence of some physical findings and the nature of the vascular disease can raise suspicion for LDS, which can be evaluated by genetic testing.

Another characteristic commonly seen in people with LDS are aneurysms visible by imaging techniques. They are most often seen in the aortic root (base of the main artery leading from the heart), but can be detected in other arteries throughout the body, as well.

The diagnosis

Dr. Batanjski discovered she had the syndrome in 2008 following the diagnosis of her sister and a doctor recommendation that all members of the family be tested. Later that year, University of Michigan Frankel Cardiovascular Center cardiologist Dr. James Froehlich diagnosed an aneurysm in Dr. Batanjski’s aortic root. Then, in 2010, U-M cardiac surgeon Dr. G. Michael Deeb performed open-heart surgery and replaced her aortic root while sparing her native aortic valve.

From 2009 to 2010, Dr. Batanjski’s sister, aunt and cousin all had the same open-heart surgery to repair their aortic aneurysms.

This familial syndrome has proved to be a challenge for Dr. Batanjski and her entire family. “Although this is a life-threatening condition, we have learned to live life to the fullest and to count our blessings,” she says, noting that, “as kids get older, they become more aware of the severity of this condition and the risks involved, including their restrictions. These restrictions are daily conversations with friends, school teachers and coaches, all under the direct supervision of their cardiologists.”

Supporting the cause

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Top photo: Rosemary with her husband Milorad and children Dusan, age 11, and Dijana, age 9. Photo above: Rosemary and her family, along with Dr. Hal Dietz, attend Nik’s Braveheart fundraiser for Loeys-Dietz syndrome research.

Dr. Batanjski and two of her sisters (one does not have the syndrome) have been involved in research at the U-M Frankel Cardiovascular Center, and Dr. Batanjski is currently enrolled in stem cell research overseen by Dr. Bo Yang at the Frankel CVC.

The sisters also play an active role in fundraising and increasing awareness of LDS. Last summer they hosted an event called Nik’s Braveheart, which paid tribute to two renowned doctors in the treatment of Loeys-Dietz — including U-M’s Dr. Yang — and raised more than $10,000.

The family also organized large international basketball tournaments in May 2014 and 2015 to pay tribute to Nik Dragicevic, who passed away at age 31. This tournament raised awareness of Loeys-Dietz syndrome as well as funds for ongoing research.

Take the next step:

Frankel-informal-vertical-sigThe University of Michigan Samuel and Jean Frankel Cardiovascular Center is a top-ranked heart and heart surgery program among Michigan hospitals. To learn more, visit our website at umcvc.org.