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Ruey-Kang Chang, M.D., M.P.H.

Photo of Ruey-Kang Chang, M.D., M.P.H.Ruey-Kang Chang, M.D., M.P.H.
LA BioMed Principal Investigator, Pediatric Cardiology, Los Angeles Biomedical Research Institute at Harbor-University of California Los Angeles Medical Center, Los Angeles, California
Screening for Jervell and Lange-Nielsen Syndrome

Administered by the NHLBI Division of Cardiovascular Sciences, Heart Development and Structural Diseases Branch
FY 2009 Recovery Act Funding: $499,968

Additional Funding:
Screening for Jervell and Lange-Nielsen Syndrome
Administered by the NHLBI Division of Cardiovascular Sciences, Heart Development and Structural Diseases Branch
FY 2010 Recovery Act Funding: $499,954
More information about the grant
Total funding: $999,922

Big Picture: Pediatric cardiologist Ruey-Kang Chang, M.D., M.P.H. has focused his research on public health issues related to infants and children with heart disease.

Educated and trained in public health and clinically trained in pediatric cardiology, Dr. Chang is interested in looking at clinical problems from a public health perspective. His research has centered on the prevention of sudden death from silent or undiagnosed heart conditions. These include infants born with critical congenital heart disease that is not diagnosed in time for proper treatment; hypertrophic cardiomyopathy in competitive athletes; and Sudden Infant Death Syndrome (SIDS), which strikes some 2,500 families in the U.S. each year.

With the NHLBI's Recovery Act funding, Dr. Chang and his team are launching a new inquiry to screen for Jervell and Lange-Nielsen syndrome, a rare hereditary disorder that is a cause for sudden death in infancy and early childhood.

The Study: Jervell and Lange-Nielsen syndrome is a severe form of Long QT Syndrome that causes irregular heartbeats, or arrhythmias, that can lead to fainting, seizures, or sudden death. In many cases, Jervell and Lange-Nielsen syndrome goes undetected until an infant dies from it. If it were detected early, medication and other treatments could prevent death.

All infants with Jervell and Lange-Nielsen syndrome also have severe hearing loss. California, where the study is being conducted, has a successful statewide program that screens all infants for hearing loss. Dr. Chang saw an opportunity to identify Jervell and Lange-Nielsen syndrome among infants who are found by the state hearing program to have severe hearing loss. Those infants could then be treated early to prevent sudden death. With Recovery Act funding, Dr. Chang and his team of researchers will work with the California Newborn Hearing Screening Program to conduct cardiac screening of those infants found to have hearing loss in order to determine if they also have Jervell and Lange-Nielson syndrome.

"If we can find these infants before they start suffering from the cardiac symptoms, we can treat them effectively with medication and other means and prevent them from going into an arrhythmia which may cause death," said Dr. Chang.

He said the study, if successful, could lead to nationwide screening for Jervell and Lange-Nielsen syndrome, because almost all the states currently check infants for hearing loss.

"Our project will be the first step in screening infants at risk of SIDS caused by Long QT Syndrome including Jervell and Lange-Nielsen syndrome," said Dr. Chang. "Eventually, we may get to the point where all infants are screened for their risk for Long QT Syndrome and SIDS."

Launching Careers: Dr. Chang is hiring five research assistants with the help of the Recovery Act funding from the NHLBI. The funding also contributes to the salary for five investigators.

Last Updated:August 10, 2010



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