Genetic testing is at the forefront of technology that is used to help diagnose the main causes of heart disease. But is genetic testing really necessary for everyone? For patients who have already been diagnosed with a heart condition, genetic test results do not routinely affect the outcome of a patient’s treatment plan. However, a genetic evaluation can help correctly identify the underlying causes of their heart condition and pinpoint risks in other family members.
Heart conditions are often heritable. That’s why it’s important to get a thorough medical records review, family history analysis, and indication for genetic testing. Once any genetic risk is clear in an at-risk family member, individuals can work with their doctors to pursue close cardiac monitoring, make lifestyle changes, or begin taking medication to prevent heart damage.
Without a confirmed diagnosis, however, patients and healthcare providers often confuse the warning signs of hidden heart conditions with fatigue, old age, or high stress.
Common red flags for anyone with a predisposition for heart disease include recurring shortness of breath, painful breathing, frequent fainting or loss of consciousness, and severe chest, stomach, back, or neck pain. People with these symptoms should monitor their health closely and inform a doctor of these symptoms or any abnormal changes.
In some cases though, people don’t exhibit symptoms at all, but they may have a family history that puts them at increased risk for heart disease. For example, having one or more affected relatives who were diagnosed with heart failure before the age of 50 could be a red flag. Sudden cardiac arrest, severely elevated cholesterol, unexplained drowning in a good swimmer, or sudden infant death syndrome may also be signs of a familial predisposition to heart disease.
While genetic testing may not always identify a single gene variant or fully explain an individual’s predisposition to a heart condition, there are a number of things that a cardiovascular genetic counselor may consider when deciding on the best test to offer:
1. Severely elevated cholesterol – Severely elevated cholesterol can cause heart disease by forming fatty deposits in your blood vessels, decreasing the blood flow through your arteries. Individuals with elevated cholesterol are at increased risk for heart attack and stroke.
2. Cardiomyopathy – Patients who have cardiomyopathy have heart muscle disease, and their heart may not pump sufficient blood to the body. Cardiomyopathy can lead to heart failure, arrhythmia, or cardiac arrest.
3. Arrhythmia – Patients with arrhythmia have abnormal heart rhythms, which can be serious and cause cardiac arrest.
4. Thoracic aortic aneurysms – A thoracic aortic aneurysm is an abnormal enlargement of the aorta. Genetic testing for this condition can also define if a patient has a condition that might be more complex and go beyond having an enlarged aorta. An example of this condition would be Marfan syndrome.
Individuals with Marfan syndrome exhibit a long facial structure, a thin appearance, and long limbs. Notable historical figure President Abraham Lincoln is thought to have had Marfan syndrome. Another notable celebrity believed to have had Marfan syndrome was the Broadway musical Rent’s original director, Jonathan Larson. He died unexpectedly from an aortic dissection the morning of Rent’s opening preview performance off-Broadway.
5. Undefined conditions suspected to be genetic – While panels test a defined number of genes for specific cardiovascular genetic conditions, some patients do not fit any known category. These patients, however, often have an early onset or severe disease presentation along with multiple similarly affected relatives. In these cases, exome sequencing, a testing modality that evaluates all 20,000 genes in the human body, could be applied. We reserve use of large-scale testing in selected cases of heart conditions that are suspected to have a genetic cause, but for which the genes associated with such presentation are not well understood.
There is not one universal panel that genetic counselors test for; each test is tailored to a patient’s clinical symptoms and family history. Receiving a consultation from a certified genetic counselor can help patients sort through a multitude of heart health issues discovered through genetic testing, including a confirmation of their official diagnosis and the source of why they have that diagnosis.
Genetic counselors assist patients and their doctors, rather than define the course of action for the illness. They provide emotional support to help individuals adapt to risk and, potentially, a new diagnosis of heart disease. They also help to identify family members who might be at risk for genetic heart disease and may benefit from genetic testing once the family mutation is known. Because in the long run, genetic information helps people gain control over their heart health.
Ana Morales, MS, CGC, is the president-elect of the American Board of Genetic Counseling, the association that provides certification programs for genetic counselors to protect patients from the misuse of genetic testing.