Some heart conditions run in families, and spotting them early can give relatives time to protect their health. A careful look at a family's medical history is often where that process starts.
Bonnie Poteet, MMSc, CGC, of the Northside Hospital Cardiovascular Genetics Program, spoke about finding and testing for inherited heart disease in her presentation, "Cardiogenetic Testing 101: Practical Use for Primary Care." She presented at the Cardiovascular Update in the Primary Care Setting conference, hosted by Northside Hospital Heart Institute.
About one in 70 people may carry an inherited heart condition caused by a change in a single gene, according to data presented during the session.
These conditions can affect the heart muscle, the heart's electrical rhythm, the body's main artery or cholesterol levels. One of the most common, an inherited form of high cholesterol, affects about one in 250 people but often goes undiagnosed, Poteet said. As a result, many people miss the chance for early, preventive treatment.
Poteet highlighted warning signs in a family's history that may point to an inherited heart condition. The clearest is an unexplained cardiac arrest or sudden death. Unexplained fainting, especially during exercise or emotional stress, is another.
Other red flags include heart failure or a heart transplant before age 60 and a heart attack or stroke before 55 in men or 65 in women. A tear or bulge in the body's main artery before 60, very high untreated "bad" cholesterol and sudden infant death can also be clues. Even unexplained drownings or single-car accidents may be worth a closer look, she noted.
Vague family stories can make these patterns hard to see. A relative's death described only as heart disease or a heart attack may hide an inherited condition, according to the presentation.
A family history is helpful but not required. Adoption, small families, faulty memories and early deaths that were never correctly explained can all hide a pattern. Genetic testing can still find a cause in people without a known family history, though less often.
Genetic testing can return one of three results. A negative result means no meaningful gene changes were found. A positive result means a disease-causing change was found. A third result, called a variant of uncertain significance, means a gene change was found but its effect is not yet known.
These uncertain results are common and do not change a patient's care, Poteet emphasized. A negative result also does not rule out an inherited condition. If concern remains, doctors may consider updated testing in about five years, especially if new symptoms or family history appear.
When a disease-causing gene change is found, it can open the door to cascade testing. This means testing relatives step by step to learn who did or did not inherit the change. The approach is targeted and cost-effective, and relatives are more likely to seek screening when a specific family gene change is known, according to the presentation.
Relatives who carry the change can take action early, even before symptoms appear. That may include heart imaging, heart rhythm monitoring, lifestyle changes, limits on certain exercise or early treatment. For some inherited conditions of the main artery, preventive surgery may be an option.
Genetic counselors guide patients and families through each step, Poteet said. They assess risk, coordinate testing, explain results and help family members understand what comes next.
As heart care moves toward more personalized treatment, a family's history may help more people find hidden risks in time to act. People who notice these warning signs in their family may want to talk with their doctor.
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