Doctors Isolate Heart Gene

A team of scientists, including several from the Medical School, has identified the gene responsible for a disease that causes the walls of the heart to thicken, marking a significant step toward learning the cause of a common heart disease.

The team, led by Drs. Christine and Jonathan Seidman from Harvard, discovered the cause of Familial Hypertrophic Cardiomyopathy (FHC), which often leads to heart failure and, in some cases, sudden, unexpected death.

The research was published in the September 7 issue of the scientific journal Cell.

The discovery, made by scientists from a number of hospitals and universities, was hailed as significant because it will permit doctors to detect the condition in individuals with a family history of FHC. But scientists emphasize that more research is necessary in order to improve detection procedures and develop treatment for the disease.

"This is a condition that we have had no bio-medical clue about until now," said Christine Seidman, the chief researcher. Although FHC affects only three in 100,000 people, Seidman said she hopes further research will locate the genes responsible for more common forms of cardiomyopathy.

Cardiomyopathy includes a number of diseases that cause thickening of heart's walls, which is the leading cause of sudden unexpected death among athletes. One of the most notable victims of the disease was Hank Gathers, a basketball player at Loyola/Marymount University who died suddenly during a game in March.

FHC often goes undetected throughout childhood, but many of its victims are children who die suddenly while running or playing. Its symptoms include shortness of breath, chest pains, and high blood pressure, according to Seidman.

Scientists say that children of FHC-affected parents have a 50 percent chance of inheriting the disease. If FHC could be detected early in childhood, doctors would know whether to limit a child's rigorous activity, Seidman said.

Seidman said she had been researching the cause of FHC since 1984. Her team used genetic mapping to isolate the genes in two FHC-affected families.

Although Seidman's discovery is just the first step toward treating the disease, it will significantly help researchers in the future.

"It's much easier to try to design rational therapy if you have some idea of what is actually causing the disease," Dr. Benjamin Perryman, a professor at the Baylor College of Medicine, told The Associated Press.