Molecular detectives: Scientists track the genetic footprints of heart disease

But because standard autopsies do not always reveal inherited cardiac anomalies, it can be difficult to determine whether the culprit was inherited heart disease or something else.

To help improve the likelihood of detecting inherited cardiac anomalies in families, Gregory Webster, MD, MPH, a cardiologist at Ann & Robert H. Lurie Children's Hospital has teamed up with colleagues from Northwestern University Feinberg School of Medicine to trace the footprints of genetic heart disease in young people who died suddenly and whose cause of death has not been determined through traditional autopsy.

For the study, Webster and colleagues are relying on so-called molecular autopsies -- tests that analyze genetic code searching for aberrations linked to cardiac death. While DNA samples for these next-generation autopsies are already being collected by some medical examiners' and coroners' offices, it remains unclear how accurately they can determine the cause of death and how to best use them clinically. The goal of the research conducted by Webster and team is to clarify the accuracy of such tests in the recognition of inherited heart disorders.

The researchers are collaborating closely with medical examiners' and coroners' offices throughout Illinois to identify such cases and perform detailed genetic analyses in both the deceased and the survivors. In addition to genetic testing, surviving family members are also undergoing clinical evaluation involving physical exam, electrocardiograms and echocardiograms. Identifying the genetic markers of cardiac disease can help physicians spot those at risk early and intervene to avert the most dreaded complications of such inherited conditions.

"This study is an opportunity to understand how inherited diseases of the heart affect families," Webster says. "Anytime a child or a young person dies suddenly, it's a tragedy. Findings from this research will illuminate ways to help us prevent other such tragedies from occurring in the same family." The most common cardiac causes of sudden death in children are defects in the heart's electrical conduction system or anomalies of the heart muscle. A significant portion of these disorders are hereditary, passed down from generation to generation and demanding careful evaluation and follow-up for the entire family.

"Identifying family members who stand to benefit from diagnosis and treatment of inherited heart disease is the most critical step in preventing sudden death, and this is what we're hoping our study will help us do," Webster says.