Knowledge is power, especially when it comes to heart health. Knowing your risk for a heart disease called cardiomyopathy can empower you to be screened regularly—and seek out treatment when needed.
Cardiomyopathy is an abnormality of the heart muscle. Sometimes, people go through life without experiencing any symptoms, but it can also be serious, leading to heart failure or sudden death.
Fortunately, physicians like Anjali Tiku Owens, MD, director of the Penn Center for Inherited Cardiac Disease, specializes in helping you understand your risk for inherited heart conditions like cardiomyopathy.
What to know
Here’s what Dr. Owens says you should know about cardiomyopathy, from diagnosis to treatment and beyond.
Q: What is cardiomyopathy?
Anjali Tiku Owens, MD: Cardiomyopathy is a heart muscle abnormality. This means the heart muscle has an abnormal structure or function—or both.
There are several types of cardiomyopathy, and each one has a different impact on the muscle structure or function.
Q: Who is at risk for cardiomyopathy? Do genetics have anything to do with it?
Dr. Owens: Sometimes. There are kinds that are heritable—they can be passed from one generation to the next.
If a patient has already been diagnosed with an inherited form of cardiomyopathy, we can do genetic testing on that person. We look at DNA sequences from a sample of blood, checking for genetic changes (mutations) that we know can lead to cardiomyopathy.
If we find a disease-causing mutation in that person, we can test any family member for that specific genetic change. This is important because there’s a 50/50 chance of a child inheriting the mutation from a parent.
If we don’t find that specific genetic change in a patient’s child, that means he didn’t inherit the mutation and should be at lower risk to develop cardiomyopathy.
But if we do find the mutation in a child, then we follow him closely with screening echocardiograms every few years throughout that patient’s life.
Having a disease-causing mutation means you have a genetic predisposition to develop cardiomyopathy, but it doesn’t mean you have cardiomyopathy at that moment, nor does it guarantee that you will definitely develop cardiomyopathy. However, because it can develop at any time, it’s important to be screened regularly.
Q: Is cardiomyopathy more common at certain ages?
Dr. Owens: Cardiomyopathy can affect almost anybody at any age, from infancy to end of life. But some types of cardiomyopathy come with a higher risk at certain ages.
For example, adolescence is a high risk period to develop hypertrophic cardiomyopathy in those who have a genetic predisposition.
Diagnosis and Treatment
Q: How is cardiomyopathy detected and diagnosed?
Dr. Owens: We’re usually able to detect cardiomyopathy by doing a heart ultrasound called an echocardiogram. Echocardiograms take pictures of the heart and its chambers.
We use these images to measure the thickness of the walls, size of the chambers and function of the heart.
Sometimes, echocardiograms aren’t able to give us good enough pictures for a clear diagnosis. In those cases, we use a cardiac MRI for more accurate images.
Q: What does cardiomyopathy treatment look like?
Dr. Owens: Cardiomyopathy can be dangerous. It can lead to symptoms of heart failure or even sudden death. That’s why it’s so important to be screened and treated—especially if you have a genetic predisposition.
The treatment you get depends on the type and severity of the cardiomyopathy you have. In most cases, medications are all that is needed for treatment. We usually recommend that patients also restrict the amount of vigorous physical activity or sports they participate in.
Sometimes, we have to use more advanced therapies. For instance, implantable devices, like pacemakers and defibrillators, can optimize heart function and prevent death from an abnormal heart rhythm.
If a person’s cardiomyopathy is very severe, a heart transplant or ventricular assist device might be the best option.
So if you know you have cardiomyopathy, or you’re at risk for it because of a family history of cardiomyopathy, it’s critical to see your physician to get the proper surveillance and treatment.