Early heart disease ran in Rick Del Sontros family,and every time he went for a run,he was scared his heart would betray him. So he did all he could to improve his odds. He stayed lean,kept away from red meat,spurned cigarettes and exercised intensely,even completing an Ironman Triathlon.
I had bought the dream: if you just do the right things and eat the right things,you will be OK, said Del Sontro.
But after his sister,just 47 years old,found out she had advanced heart disease,Del Sontro,then 43,and the president of Zippy Shell,a self-storage company,went to a cardiologist. An X-ray of his arteries revealed the truth. Like his grandfather,his mother,his four brothers and two sisters,he had heart disease. (One brother,Michael,has not received a diagnosis of the disease.)
Now he and his extended family have joined an extraordinary federal research project that is using genetic sequencing to find factors that increase the risk of heart disease beyond the usual suspectshigh cholesterol,high blood pressure,smoking and diabetes.
The aim is to see if genetics can explain why heart disease strikes apparently healthy people.
We dont know yet how many pathways there are to heart disease, said Dr Leslie Biesecker,who directs the study Del Sontro joined. Thats the power of genetics. To try and dissect that.
Researchers know that a family history of early death from heart disease doubles a persons risk independently of any other factors. Family history is defined as having a father or brother who received a diagnosis of heart disease before age 55 or a mother or sister before age 65.
Scientists are studying the genetic makeup of each member of the Del Sontro family,searching for telltale mutations in DNA.
With the right family,you may need only one family, said Dr Robert C Green of Harvard Medical School who studies genetics.
We need to understand disease biology in humans, said Dr Elias Zerhouni,a former director of the National Institutes of Health and now president for global research and development at Sanofi. The tools are here.
But the greatest challenge is to figure out how to prevent heart disease in the first place. And that is where the Del Sontro family comes in.
Bieseckers project had a specific goal: to recruit 1,000 people,a quarter with no heart disease and a quarter each with mild,moderate and severe forms of the disease. The hope was that by comparing the genes of people with varying degrees of severity,genetic alterations that would reveal why heart disease occurs may be found.
Researchers made some interesting observations about mutations that were already known to cause heart diseases,but the Del Sontros offered the possibility of discovering an entirely new genetic pathway to heart disease.
Biesecker acknowledged that there was no guarantee of success. He and his colleagues know the gene mutation in the Del Sontro family must be rare. Otherwise,lots of people would have early heart disease but no obvious risk factors.
Rick Del Sontro is preparing for the worst. He has life insurance and long-term care insurance. I keep waiting for the day when I have shortness of breath, he said.
At dinner one recent evening at their townhouse in Washington,his wife Pura admitted to worrying,but said,We dont talk about it a lot. She served Indian takeoutsaffron rice,tandoori chicken,eggplant. She ate sparingly. Rick Del Sontro drank only water and took small portions.
Their 9-year-old daughter,Siena,said she was afraid she had inherited the heart problems. Del Sontro reassured her that scientists would have found a treatment by the time she grew up. I hope it doesn’t hurt, she told him.