How Cardiovascular Genetic Testing Makes a Difference
Inova helps one family manage gene-influenced heart disease
For decades, Stephen Aldo, now 62, was diagnosed with an “insignificant” heart murmur — nothing serious enough to affect his career with the United States Marine Corps. However, while stationed in Japan in 1984, a routine physical uncovered a disease that ultimately ended his military career.
Stephen had hypertrophic cardiomyopathy (HCM), which causes the heart muscle to become abnormally thick and less able to pump blood. Sometimes HCM disease is asymptomatic and goes undiagnosed. For some, HCM causes minor symptoms, such as shortness of breath, chest pain or, as Stephen experienced, abnormal heart rhythms. In extreme cases, HCM can lead to a required heart transplant or sudden death — two conditions that eventually touched the Aldo family.
Here’s something else Stephen learned: Hypertrophic cardiomyopathy is commonly triggered by an MYBPC3 or MYH7 gene mutation. There’s a 50 percent chance that those diagnosed with either gene mutation will pass the anomaly onto their children.
Getting the facts about cardiovascular genetic testing
In 2010, the Aldo family underwent genetic testing. “I wanted to understand what was causing my heart disease — and I wanted to know if my children were at risk,” Stephen explains. Results confirmed that he and three of his four living children had the MYBPC3 mutation.
The cardiovascular genetic test results prompted personalized screening schedules for each of his children, which is key since the MYBPC3 gene mutation does not guarantee progression to HCM. And if the disease does present, proper screening can initiate fast medical intervention.
For Stephen, his disease eventually progressed to critical status. A need for a heart transplant brought him to Inova Heart and Vascular Institute’s Advanced Heart Failure program where his care was managed by Palak Shah, MD, Director of Inova’s Cardiovascular Genomics Center, in conjunction with Inova’s Heart and Lung Transplant Program.
Monitoring children with gene mutation is key
Besides Stephen, Dr. Shah and the Inova Heart and Vascular Institute team monitor Stephen’s grown children with the gene mutation. For Sean, 32, the gene mutation has progressed to HCM and is managed with an internal cardiac defibrillator to monitor and correct abnormal heart rhythms. Two other children, Brittany Aldo O’Donnell, 25, and Connor, 16, both inherited the gene mutation, but it has not progressed in either to HCM. Brianna, 23, did not inherit the mutation. (A fifth child, Jerahmai, had the gene mutation, which progressed to severe HCM and ended his life in 2004 at age 22.)
It’s a lot to deal with, although Stephen admits that having Dr. Shah ready to field questions and handle cardiovascular monitoring reduces emotional factors. “Easing personal anxieties is a strong argument in favor of genetic testing — regardless of the disease in question,” Dr. Shah adds.
Knowledge of potential heart problems helps doctors act sooner
In addition, genetic testing for inherited heart disease often keeps the cardiologist ahead of the curve. “If we know how a mutation may progress, we know what to look for,” Dr. Shah says. “For the Aldo family, that means we look for electrical and structural heart abnormalities with EKGs and echocardiograms. Progression may never happen, but if it does, the sooner we identify a potential issue, the sooner we can begin precision therapeutics, or personalized medicine.”
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