Did you have an uncle who used to complain about his “bad ticker?” Or grow up hearing about a relative who dropped dead overnight despite a lifetime of good health? These are just some of the stories geneticist Matt Thomas, GC, hears as head of UVA Health’s Cardiovascular Genetic Program.
“Most heart conditions have a genetic component,” Thomas shares.
Many people are afraid to test because they don’t want to know. But Thomas sees it differently. Genetic testing gives you the opportunity to take action early. And maybe prevent yourself from developing heart disease at all.
How Do I know If Genetic Testing Is Right For Me?
You should consider genetic testing for inheritable heart disease if you:
- Have a family history of heart disease
- Lost a family member to aortic aneurysm
- Had anyone in your family die unexpectedly before the age of 50
- Have had an unusual EKG reading
- Recently experienced a heart event, like a heart attack, with no warning
What Does It Mean To Have a Family History of Heart Disease?
When a geneticist sits down to talk about family history, they look back 3 generations. That means you, your parents, and your grandparents.
If one of your parents or grandparents had heart disease, then you’re at increased risk.
But for many, this isn’t as obvious. If a parent or grandparent died unexpectedly, they may have had an undiagnosed heart condition. If they died of something unrelated while they were young, they may also have never shown symptoms.
Other family members might not share their full medical history. And when they do, they may only share in vague terms. Or with explanations related to lifestyle.
And of course, some people no longer communicate with their biological family. And uninterested in re-establishing contact just to find out if they’re at risk for a disease.
What Does Genetic Testing Involve?
Genetic testing is about as un-invasive as medical tests can be. After learning about your family history, your genetic counselor will suggest conditions to test for. Depending on your risk and the genes they need to look at, they’ll either get a cheek swab or a blood sample.
After a couple of weeks, your genetic counselor will get in touch to tell you the results of your tests, and what they mean for you going forward.
If My Genetic Test is Positive, Does That Mean I’ll Get Heart Disease?
A positive genetic test may seem scary. But Thomas is very clear: having the genes for a disorder and having the disorder are very different things. A positive test does not mean you’ll get heart disease. On the other hand, people with no genetic risk factors get heart disease.
Genetics is one factor in developing heart disease. But many others, like stress, diet, and lifestyle, play a role too. People who know they have a positive genetic risk often are careful to monitor their heart health and take preventative measures. By knowing you’re at risk, you can take steps to prevent getting heart disease. That’s the benefit of genetic testing.
Family History of Heart Disease?
Genetic testing helps you understand your risk for inherited heart disease, so you can take action now.
Where Does Heart Disease Come From?
There are many types of heart disease, all with different causes and symptoms. Heart disease can come from several sources. The main ones are:
Structural heart defects, or congenital heart defects (CHD)
Some heart disease is caused by structural changes of the heart present at birth. Many do have a genetic link. And if you’ve had a CHD, your chances of having a child with a CHD increase to 5%.
Acquired heart disease
Acquired heart disease is caused overtime by lifestyle factors, like diet, stress, and exercise. It can also be a side effect of medication taken for another condition. Cancer survivors who have had high doses of chemotherapy need to be screened for heart conditions.
Inherited heart disease
Inherited heart disease is caused by specific changes to genes. These genetic changes make you more likely to develop certain heart disease. Especially when combined with lifestyle factors.
One heart disease that has a strong genetic link is called hypertrophic cardiomyopathy. This condition can lead to sudden cardiac arrest, which is often triggered by exercise. Tragically, many healthy young adults have died due to this condition, which often has few, or even no, symptoms beforehand.
How Do People Describe Inherited Heart Disease?
Inherited heart diseases fall into 3 main types: arrhythmias, cardiomyopathies, and malformations of the heart. Additionally, many connective tissue disorders can cause heart problems.
But it's likely your family didn't use medically correct or formal language. Here's some of the ways people describe these conditions.
| Type of Disorder | Specific Conditions | How Your Family May Describe It |
| Arrhythmias | Long QT syndrome Short QT syndrome Brugada syndrome Catecholaminergic polymorphic ventricular tachycardia Idiopathic ventricular fibrillation | This is any irregular heartbeat. It may have been described as having their too slow or too fast of a heartbeat. They may say their heart was fluttering or racing. |
| Cardiomyopathies | Hypertrophic cardiomyopathy Arrhythmogenic right ventricular cardiomyopathy Left ventricular non-compaction Dilated cardiomyopathy Restrictive cardiomyopathy | Cardiomyopathies affect the muscle of the heart. This leads to poor circulation. A family member may have had blue fingers or toes or difficulty catching their breath. |
| Connective Tissue Disorders | Loeys-Dietz Vascular Ehlers-Danlos (vEDS) Marfan syndrome | Connective tissue disorders typically lead to loose joints or skin, easy bruising, and flexibility. Most connective tissue disorders don’t affect the heart. And many are never diagnosed. If you had a relative with these characteristics who died due to aortic aneurysm or aortic dissection, you may want screening. |
| Malformation of the heart | Congenital heart defects Bicuspid aortic valve Tricuspid atresia Atrial or septal defects | These are often described as “holes in the heart” or heart murmurs. They’re often closed surgically shortly after birth. |
What About Coronary Artery Disease? Is That Genetic?
Estimates show coronary artery disease (CAD) is about 50% from your genes and 50% your lifestyle.
Genetic testing can tell you if you’re at risk. But CAD, and atherosclerosis in particular, affect a huge percent of Americans. If you’re between the ages of 45-80 and have at least one symptom like chest pain, you may want to get a CAD screening, regardless of genetic risk.
High cholesterol (hypercholesterolemia) is another form of coronary artery disease with a strong genetic link. A lot of people associate high cholesterol with an unhealthy lifestyle. But in young people, it's most likely caused by genetics.
When high cholesterol is caused by diet or lack of exercise, it can usually be controlled with lifestyle changes. But genetic causes are best addressed with medication.
Read these families’ stories about genetic testing:
Brugada Syndrome
Long QT Syndrome
Are Heart Murmurs Genetic? Should I Worry?
Some heart murmurs are genetic. Heart murmurs are sounds (sometimes described as whooshing). Many heart murmurs are harmless.
Some are caused by infections, like strep throat, that can’t be inherited.
But if you know you have a family history of problematic heart murmurs, then genetic testing is a great preventive measure.
