When it comes to different types of heart disease, there are plenty of factors you can’t control — including aging and your family history.
But even if you can’t turn back time, knowing about genetic issues makes a difference in how you manage, monitor and treat disease. If you dig into your family history, you’ll find more than just good stories; you’ll find life-saving information.
I brought up aging for a reason. When we get older, our hearts are going to undergo natural “wear and tear.” But when that happens to a person who is relatively young, it’s one of many genetic red flags.
Two types of cardiomyopathies offer examples. First is dilated cardiomyopathy. Anywhere from 20 percent to 50 percent of cases are linked to a mutation in the LMNA gene. With dilated cardiomyopathy, the walls of the heart become thin so that the heart weakens to the point of poor function. Patients also often experience heart arrhythmias. In fact, when a patient has both dilated cardiomyopathy and an arrhythmia, that is often a sign that an LMNA mutation is the cause.
Unlike the thin walls of dilated cardiomyopathy, with another form, hypertrophic cardiomyopathy, portions of the heart are actually too thick. The physical aspects are different, but, but the stats on genetics are similar: 20 percent of cases are linked to mutations in the TITIN gene. And TITIN is just one of at least 10 genes associated with the condition.
“If you dig into your family history, you’ll find more than just good stories; you’ll find life-saving information.”
Charis Eng, MD, PhD
Founding Chairwoman of the Genomic Medicine Institute
The other common link: age. In both cases, younger-than-expected patients, as was the case with former basketball player Isaiah Austin, whose diagnosis with hypertrophic cardiomyopathy at age 20 halted a promising NBA career before it started.
Genetic screening can’t stop these conditions — but they can help doctors and patients and their families form plans to treat and manage them.
There’s a reason we stress the importance of a detailed family history. The red flags that identify genetic heart disease will pop up in those details.
The type of heart disease is important to watch, too. The two types of cardiomyopathy outlined above are strongly associated with genetics. So are heart arrhythmias and valve disorders, particularly when valve disorders strike the young.
Even when no known genes exist, clustering of heart disease, e.g. heart attacks, in a family should be a trigger. Tell your doctor about this family history of heart disease.
If family history triggers a concern, share that concern. Your doctor could refer you for genetic counseling. A genetic counselor not only helps you prepare for any screenings you may need, but also helps you understand what possible results mean for your future care.
A genetic mutation is a risk factor — and knowing your risk factors changes things. For example, people who know they have LMNA-related dilated cardiomyopathy can prepare for the regular echocardiograms and other critical monitoring to try to prevent issues. They also can discuss treatment options, such as implantable defibrillators.
Other conditions require different types of monitoring, but the idea is the same: If you know your risk, you can act on it. If you have the right diagnosis, you can seek the right prevention and treatment. But it all starts with knowing what’s in your family history.
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