Hello February: Heart Month from the Perspective of a Cardiovascular Genetic Counselor

by Nori Williams, CGC, from the Grey Genetics Network 


In honor of February being heart month, I’d like to take the opportunity to discuss how genetics impacts our hearts, both literally and figuratively.

My genetic counseling specialty is cardiovascular genetics. In my day job, I counsel families who have lost a loved one to sudden cardiac death. When a young, seemingly healthy person passes away suddenly, it may be due to an underlying genetic cardiac condition the person did not know they had. These tragic unexpected deaths may be due to an underlying genetic cardiomyopathy, channelopathy, aortopathy, or hypercholesterolemia. These conditions are scary, because the first sign or symptom can be sudden death, but it is important to note that these conditions are treatable once a diagnosis is made.

Some of these conditions have no discernible physical manifestations on gross autopsy, and a genetic test is the only opportunity to diagnose. Families who have suddenly lost a loved one are desperately seeking answers, and in some cases, testing can provide them with those answers they are looking for. Diagnostic postmortem genetic testing enables the identification of a genetic cause, at-risk family members can be screened for the familial variant, treated, and lives can be saved.

Working from a postmortem point of view provides me with a unique perspective, yet I encounter many of the same issues all GC’s experience in their practice. Our technologic capabilities are great, while our understanding of the impact of genetic variants is limited. Uncertainty is an ever-present discussion, as genetic risk is rarely ever straight-forward. Discussing variants of uncertain significance, reduced penetrance and variable expressivity showcase a spectrum of risk perception. 

We test people of all ages ranging from infancy to adulthood, span ethnic backgrounds, socioeconomic status, and immigration status. My work showcases how genetic disease is family disease, as we share not just our genetic make-up, but also our grief and resilience. I see the resiliency of people to heal and rebuild in the face of a tragedy and a life-altering test result every day. Each genetic counseling session balances realism and hope, as we help provide closure and answers to grieving families with a diagnosis, and support people during an unthinkable time in their lives who have just learned they are also at risk.

Do you have a family history of sudden cardiac death? Do you or your relatives experience fainting episodes, chest pain, shortness of breath, seizures, exercise intolerance, or heart palpitations? If you answered yes to any of these questions, think about making an appointment with me. Knowledge is power, and together we can evaluate your heart health.