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.