Seeking Clues to Heart Disease in DNA of an Unlucky Family

[eridani]

http://www.nytimes.com/2013/05/13/health/seeking-clues-to-a-heart-killer-in-the-dna-binding-a-family.html?pagewanted=3&hpw&pagewanted=print

Early heart disease ran in Rick Del Sontro’s 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 kept himself lean, stayed 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 O.K.,” said Mr. Del Sontro, whose cholesterol and blood pressure are reassuringly low.

But after his sister, just 47 years old, found out she had advanced heart disease, Mr. 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 suspects — high cholesterol, high blood pressure, smoking and diabetes.

The aim is to see if genetics can explain why heart disease strikes apparently healthy people. The hope is that a family like Mr. Del Sontro’s could be a Rosetta stone for heart disease — that their arteries’ profound but mysterious propensity to clog could reveal forces that do the same in millions of others.

[dotymed]

1. They should have given

contact information. My family has the same pre-disposition for severe heart disease. I would like to help find a cure.

feel free to write to my inbox if you have the contact info.

[eridani]

2. Might be available from NYT

Didn't see it in the article.

[Sienna86]

3. Dr. Biesecker, National Institute of Health

Conducting the studies, according to the article.

[Warpy]

4. Early heart attack and stroke are usually tied to high cholesterol

meaning genetically programmed cholesterol of 400 or greater. Antilipid drugs have been amazing for a lot of these folks if they can tolerate them. I have a friend who had a stroke at 46 and who is still going strong in her early 70s thanks to those drugs.

However, I've also seen people with strong cardiac histories in their families who had normal cholesterol or just slightly elevated cholesterol with early heart disease.

I hope they can figure out what else is going on with these people.