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

By Nori Williams, MS, CGC · Feb 2019

In honor of February being Heart Month, I want to take the opportunity to discuss how genetics impacts our hearts — both literally and figuratively. My 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 they didn't know they had — a cardiomyopathy, channelopathy, aortopathy, or hypercholesterolemia. These conditions are frightening because the first sign can be sudden death. But they are treatable once a diagnosis is made.

Some conditions leave no discernible physical findings on gross autopsy — a genetic test is the only opportunity to diagnose. Diagnostic postmortem genetic testing enables identification of a genetic cause. At-risk family members can then be screened, treated, and lives can be saved. Each session balances realism and hope: providing closure and answers to grieving families, and supporting people through the knowledge that they, too, may be at risk.

Do you have a family history of sudden cardiac death? Do you or your relatives experience fainting, chest pain, shortness of breath, seizures, exercise intolerance, or heart palpitations? These may be reasons to consider an appointment with a cardiovascular genetic counselor.