In a time of continued scientific and clinical advancements, integrating genetics into healthcare holds immense promise for areas like cardiovascular medicine and care. Today, through advanced testing and analysis, medical geneticists can help patients and their families understand their genetic risk for cardiovascular disease and cardiac events. Working with a patient’s cardiologist and other care providers, a geneticist can also create prevention, monitoring, and treatment plans tailored to a patient’s unique genetic makeup.

Identifying Potential Heart Health Risks and Conditions

Evaluations from medical geneticists can help patients discover heart health risks and conditions before symptoms ever arise. Armed with this knowledge, you can make educated, proactive decisions to mitigate risk and preserve cardiac health, reducing the chance of heart attacks, strokes and more.

When Should You See a Geneticist about Heart Health?

Family History of Inherited Heart Conditions

If a heart condition runs in your family, a geneticist can determine if you have inherited a related genetic variant. Hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, familial hypercholesterolemia (FH), Long QT syndrome, Brugada syndrome and Marfan syndrome are all genetic conditions that can affect heart health.

Learn more about genetic and inherited cardiovascular disorders.

Family History of Sudden Cardiac Events

Individuals with family members who have experienced unexplained sudden cardiac events, such as cardiac arrest or sudden death at a young age, may benefit from an evaluation from a medical geneticist to check for predispositions.

Family History of Heart Disease

When multiple family members have cardiovascular disease or related complications, a genetic evaluation can help identify patterns of inheritance and assess the risk for you and other family members.

Early Onset of Cardiovascular Problems

Developing cardiovascular disease or experiencing a sudden cardiac event at a young age (particularly before 50) can be a red flag for a genetic condition.

Unusual or Unexplained Cardiac Symptoms

If you have unusual or unexplained cardiac symptoms, a comprehensive evaluation from a medical geneticist could identify potential genetic contributors and inform treatment decisions.

An Informed Plan: The Benefits of a Genetic Assessment for Heart Health

Seeing a geneticist about heart health can be instrumental in understanding any genetic factors that impact your risk of a cardiovascular condition. A geneticist and genetic counselor can provide a personalized risk assessment and help you understand potential risks for family members.

Based on your genetic profile, they may also recommend measures to prevent or manage heart-related conditions. At-risk individuals may be able to decrease the likelihood of adverse outcomes and improve overall heart health through lifestyle changes, genetic counseling, surveillance, and, in some cases, preventative interventions and medical management.

Follow-Ups and Screening

If an evaluation reveals a predisposition or established condition, your cardiologist and other care providers should work closely with your geneticists to create a targeted plan for ongoing monitoring. Regular check-ups can track changes in heart health and allow providers to adjust treatment accordingly.

Medication Management

Depending on the genetic condition or risk factors, your care team may prescribe medications to manage symptoms, control blood pressure, regulate cholesterol levels, prevent blood clots, and reduce the risk of complications such as heart failure or arrhythmias. DNA analysis can also offer insights into which medicines to avoid and which will be most effective.

Risk-Reducing Procedures

Individuals with a high risk of developing cardiovascular complications can sometimes benefit from risk-reducing interventions. These procedures may include pacemaker or implantable cardioverter-defibrillator (ICD) placement, cardiac ablation, or surgical interventions to correct structural abnormalities or reduce the risk of sudden cardiac death.

Family Awareness and Testing

If you have a genetic heart condition or predisposition, close relatives may have the same issue. A medical geneticist and genetic counselor can explain the impacts for you and your family, including who else should consider testing. This family-centered approach can reduce risk and lead to potentially life-saving early detection for family members.

Reduced Expenses and Stress

Investing in preventive, proactive care can lower your long-term healthcare costs. Preventative actions and early detection can reduce the need for more significant and expensive treatments, hospitalizations, and medications.

Wellness and Longevity

Beyond reducing the risk of heart disease, heart-healthy habits around diet, exercise, and reduced tobacco and alcohol consumption can contribute to your overall well-being. These lifestyle changes can improve your energy, mood, sleep, and physical and mental function, potentially leading to an increased lifespan. Monitoring and managing your cardiovascular health can also make you feel more in control of your body and decrease anxiety and fear about your health.

Making a Difference for Our Patients

At SequenceMD, we’ve seen firsthand the benefits of genetic evaluation and testing for many patients, including the example cases we share below.

  • Case 1: A patient in their early 20s came to us based partially on their family history. A genetic evaluation revealed a MYH7 gene mutation associated with hypertrophic cardiomyopathy (a thickening of the heart muscle). Because of these results, we recommended testing family members. We also referred the patient for reproductive counseling and recommended lifelong cardiac surveillance. This will decrease the patient’s risk of a cardiac event.
  • Case 2: In another patient with a family history of heart issues, we discovered a predisposition for a thoracic aortic aneurysm — a weakening in the upper part of the aorta that could potentially be life-threatening. We referred the patient to cardiology for further testing, and they will continue to get regular screenings so that their providers can find and address any related issues. The genetic evaluation allowed the patients to look at preventative measures before they possibly increased in severity.
  • Case 3: This patient was found to have a genetic mutation that causes progressive familial heart block. This condition changes the beating of the heart and can eventually cause cardiac arrest or death if untreated. We referred the patient to cardiology for additional testing, imaging, and regular screening. Eventually, they may need a pacemaker to control their heartbeat. Family members can also be made aware of the condition and given the option for genetic testing. This preemptive screening and monitoring allows the patient to be proactive and put measures in place to reduce future risk.

Requesting a Genetic Consult

If you want to understand how genetics impact your heart health and risk, talk with your cardiologist or primary care provider about seeing a genetic counselor or medical geneticist. Or contact our medical genetics clinic to speak with the SequenceMD team about our services.