Cardiac Gene Linked to Sudden Infant Death

The study, conducted by researchers at the Mayo Clinic (Rochester, MN, USA), was published in the November 14, 2001, issue of the Journal of the American Medical Association.

Using molecular genetic testing, researchers examined tissue collected from 93 cases of SIDS or possible SIDS for a specific defect in the SCN5A gene in the heart. This gene incodes a cardiac sodium channel that acts as an electrical tunnel and controls the heart's rhythm. In two of the 93 cases, infants were found to possess SCN5A mutations. This suggests that a lethal heart rhythm disturbance may be the cause of SIDS in some cases. If further research demonstrates that 5-10% of SIDS cases may be due to such defects, it may be possible in the future to identify such at-risk infants shortly after birth by special molecular tests. Defects in the cardiac channel genes might also lead to later risk of death by congenital long QT syndrome or Brugada syndrome in adolescence if a child escapes death by SIDS during infancy.

"We're just starting to be able to identify those infants that may be at risk for SIDS and take steps to prevent the incidence of death,” said Michael J. Ackerman, M.D., a pediatric cardiologist at Mayo Clinic. "This step is one of many that could eventually prevent SIDS.




Related Links:
JAMA
Mayo Clinic