Tim Westhaver lives with a genetic heart condition that has already claimed the lives of his mother, brother and two nephews. It is called hypertrophic cardiomyopathy or HCM, and it’s one of the most common inherited disorders. About one in 500 people are carriers. Within Tim’s family, doctors have identified 10 other relatives who have the malignant gene, including Tim’s two children.
The Westhaver brothers (from bottom left) Peter, Patrick, James, Stephen and Tim.
Tim inherited the gene from his mother when he was born 56 years ago. But it would be years before researchers developed a screening test to identify the gene putting him at risk.
Because HCM causes the heart muscles to thicken, it can interfere with the heart’s electrical rhythms and its ability to pump blood. Sudden cardiac death is the most devastating consequence of this illness. And as people don’t always experience symptoms, HCM can go undetected until it’s too late. That’s what happened to many in Tim’s family. Sadly, Tim can tell you too many anecdotes of how HCM cuts life short.
The remaining members of Tim’s family are alive today because they’ve undergone genetic screening. Each person carrying the gene now has an implantable cardioverter defibrillator (ICD); a small device that is surgically inserted to keep the heart beating regularly.
“My family is extremely grateful,” Westhaver says. “Life has thrown us a curve ball, but with medicine and research we have fared far better than our ancestors.”
The story doesn’t end with Tim. The connection between genetics and heart disease is one that researchers at Heart & Stroke are trying to map. For example, Dr. John Dawson, recipient of a CP Has Heart Cardiovascular Award through Heart & Stroke, is investigating how disease develops in people who have an inherited defect in a particular heart protein. Today, scientists have identified about 20% of all genes involved in heart disease and stroke. Doctors predict that we could uncover the remaining 80% within the next five to 10 years. But that’s only possible if research continues.
- Family history can double your risk of heart disease and stroke. Know your risk.