UCSD finds genetic time bomb in heart that leads to heart failure in some patients

urgery to close the hole.

"People have thought that congenital heart disease is cured by surgery, which is true for the short term," said the study's senior author, Kenneth Chien, M.D., Ph.D., professor of medicine and director of the Institute of Molecular Medicine at UCSD. "If a child is born with a hole in the heart, it can be patched. However, as these patients survive, it is now clear that there is an intrinsic, progressive problem with the heart that makes them get late stage heart failure and in certain cases, sudden death due to cardiac electrical problems." One of these patients was Dennis Appel of Vancouver, Washington who was born with an atrial septal defect in 1970. Although surgery at age 5 repaired the structural defect, he experienced irregular heartbeats in his 20s and had a pacemaker implanted when he was 22. Unexpectedly in 2001, at the age of 31, he suffered from a severe arrhythmia, or irregular heart rhythm.

According to his wife, Vicki, "he seemed fine. Then, he moaned and slumped forward on his stomach. When the paramedics came, they tried CPR because they heard a rhythm. But it turned out to be the pacemaker, which was working fine. Dennis was dead."

Appel was a member of a large Oregon family where multiple generations had inherited atrial septal defects, causing advanced AV node malfunction, and in some of the family, unexpected death. Heart tissue samples from affected family members who had a known defect in the Nkx2-5 gene were studied by researchers at Oregon Health & Science University (OHSU) in Portland and the Imperial College and Royal Brompton Hospital in England, in conjunction with the UCSD research team. A characteristic pattern of disease in the electrical system of the heart was found.

"This family almost uniformly had surgeries to correct the structural defects," said Michael Silberbach, M.D., an OHSU cardio

Contact: Sue Pondrom
University of California - San Diego

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