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New hope for Turner Syndrome patients

When Lea Ann Matura, a professor of nursing at Northeastern University’s Bouvé College of Health Sciences, was conducting her postdoctoral research at a National Institutes of Health clinic in Bethesda, Md., it was not uncommon for her to encounter a 20-year-old woman with the bones of an 80-year-old, or a 30-year-old mother who herself looked like a child.

These patients suffer from Turner Syndrome, a genetic disorder caused by a missing X chromosome and affecting approximately one in every 2,500 females.They can also be victims of an underlying, potentially fatal heart condition known as aortic dilation—the specific subject of Matura’s research. Left undiagnosed, this condition can deteriorate into aortic dissection, causing layers of the heart to separate.

Women with Turner Syndrome are typically diagnosed with aortic dilation around the age of 36, explains Matura. “Without treatment, patients usually die within four to six years.”

At Northeastern, Matura is continuing her search for treatments for this devastating heart defect—as well as pulmonary arterial hypertension, another side effect of the syndrome. In collaboration with the pulmonary vascular clinic at the Massachusetts General Hospital, Matura is working to develop treatments that would ease the shortness of breath, difficulty breathing, swelling of extremities, and extreme fatigue that most patients suffering from Turner-related heart issues develop.

The problem is not so much that there are no current treatments, but rather that those treatments are cumbersome and impede quality of life. “They tend to be IV medications that need to be worn constantly and require extra oxygen,” explains Matura. “The literature talks about the devastating emotional affect that is caused by having to carry around oxygen—so there’s a real psychological component to this.”

“Our goal is to develop less obtrusive interventions—even the possibility of new drugs—in an effort to prolong their lives and ease their symptoms.”

Matura is working on partnering with Massachusetts General Hospital to do further studies on Turner-related heart issues, and hopes to open up new opportunities for her students to conduct important research.

Matura has published many articles on the subject, including “Aortic Valve Disease in Turner Syndrome” in a 2008 issue of the Journal of the American College of Cardiology. She has also won several awards for her work, including the Society of Critical Care Medicine Presidential Award and the Rising Stars of Scholarship and Research at Texas Women’s University.

She completed her doctoral degree at Texas Woman’s University, and went on to complete a postdoctoral fellowship at the National Institutes of Health in Maryland. In September, she joined the Northeastern University School of Nursing, where in addition to her research she teaches two courses: Nursing Care of Adults and Nursing with Acutely Ill Adults and Families.

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