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11/05/2013 News Release Image

Researchers at Pace University Explore the Lived Experiences of Families Members That Have the Possible Risk of Genetic Mutations That Cause Sudden Cardiac Death

NEW YORK – As a researcher at Pace University in New York, Esma Paljevic, EdD, RN, CPNP, was astonished to find out that according to the American Heart Association there were 4000 deaths per year in individuals under the age of 35 due to undiagnosed disturbances of heart rhythm, such as long QT Syndrome (2009).

Paljevic is an assistant professor of nursing at Pace University’s College of Health Professions. She found this statistic to be especially alarming since the 2003 Human Genome Project has changed the general focus from disease management to disease prevention. Healthcare professionals now largely concentrate on providing personalized medicine to individuals instead of waiting for a potential sudden cardiac event. Paljevic is part of an interprofessional group of healthcare specialists in a “cardiogenetics clinic” that assesses, evaluates, tests and treats families at risk for sudden cardiac death.

One particular family that has benefited from this inter-professional cardio genetic approach to care is that of a 9 year old girl who lost her father and brother to sudden cardiac death a year ago.

Paljevic and her team were able to determine that both deceased members of her family had genetic mutations that caused their sudden cardiac death. They tested the young girl’s blood and found that she had the same mutation her father and brother had.

They then prescribed specific beta blockers and provided her with an internal defibrillator to prevent potential sudden cardiac events and prevent her from having the same deadly outcome to which her father and brother succumbed.

Paljevic does research on this comprehensive approach to cardiogenetic care that provides hope with scientific knowledge. Her recent research study explored the challenges that family members experience with feelings of guilt, fear and ambivalence of genetic testing. Her research uncovered the encouraging feelings family members often have regarding the inter-professional approach of this cardiogenetics clinic. Her research revealed family members had feelings of “being heard” and “meaningfulness” when asked about their experiences in the cardiogenetics clinic.

Before this approach, many families encountered “fragmented care” and found this distressing. They were trying to find out what happened to their loved one who died of a sudden cardiac death and what it meant to the rest of their family, especially the children. The families needed to make separate appointments for the adult cardiologist, the geneticist, the social worker, the pediatric cardiologist. This was very frustrating and inconvenient for the families and the practitioners did not have time to talk to one other regarding the same patients. The families received mixed information and were unclear of what their risk was and how to proceed.

Paljevic’s team participated in educational events for primary care practitioners to describe this unique approach, what to look for and when to refer families that may be at risk.

Research shows that families that are referred to Paljevic’s clinic feel that they are understood and heard. They prefer this approach to that of the fragmented “standard” approach.

“The young girl’s mother and grandmother now feel very reassured that everything is being done for the child and that there were health professionals that really understood the complexity of this health issue,” Paljevic said.

 

Contact: Cara Cea, 914-906-9680, ccea@pace.edu

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