Dad hugging toddler

Family legacy includes deadly heart disease

Research helps family escape genetic heart condition.

Westhaver Family

The Westhaver brothers (from bottom left) Peter, Patrick, James, Stephen and Tim.

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. 

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 the Heart and Stroke Foundation are trying to map. Today, scientists have identified about 20 per cent of all genes involved in heart disease and stroke. Doctors predict that we could uncover the remaining 80 per cent 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.

2 Responses

  1. Shannon Wiens

    I lost my 15 year old son in 2003. This is when we learned he had HCM. As a result myself & my other 2 children tested gene positive. They were 7 & 11 when they got their ICDs in 2004. I, too, have an ICD & was implanted with an LVAD ( left ventricular assist device) & am waiting for a heart transplant. Nobody else in our extended family have this, they suspect it started with me.

    1. Sharon Hollingsworth

      Dear Shannon,
      How very sad to have lost your son at such a young age. I am so very sorry. I’m sure it is a relief to know that your other children are being protected.

      Thank you for taking the time to post a comment on the Heart and Stroke Foundation blog, and sending along my best wishes for a successful surgery and speedy recovery.

      Sincerely, Sharon at the Heart and Stroke Foundation

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