When it comes to testing, 鈥渢he goal is never just to give someone a diagnosis,鈥 says Simone Weinmann, MS, a cardiovascular genetic counselor. 鈥淚t鈥檚 to give them a plan鈥攖o help them understand what their genetic risk means and what they can do about it.鈥
Credit: 91短视频 Langone
Many of us have a parent, grandparent, or other relative who鈥檚 had a heart attack or 鈥渉eart problems.鈥 But most people don鈥檛 know the full story of their family鈥檚 heart health, or that there are genetic tests that can tell you whether certain heart risks run in the family and who might be at higher risk.
American Heart Month is a good time to talk with family members about their heart health histories. Understanding both your own health history and your family鈥檚 can reveal patterns that suggest inherited risk and help you and your doctor decide whether genetic testing may be appropriate.
Asking the Right Questions
Family history of cardiovascular disease means more than a relative having a heart attack. Certain patterns may point to an inherited heart condition. Ask these questions to get a clearer picture:
- Has anyone in the family had a heart attack, stroke, sudden death due to heart issues, or been diagnosed with heart disease?
- Has anyone needed a stent or bypass surgery?
- Does anyone have an enlarged or weakened heart?
- Is there a family history of sudden death under the age of 45?
- Has anyone had an implantable cardioverter defibrillator (ICD)?
- Does anyone have high cholesterol, high blood pressure, diabetes, or a history of smoking?
鈥淭he details matter鈥攚hen people say someone in the family died of a heart attack, that may not be what actually happened,鈥 says Simone Weinmann, MS, a cardiovascular genetic counselor at 91短视频 Langone Heart. 鈥淵ou need to dig deeper to understand whether it was a heart attack, an aortic dissection, an arrhythmia, or another underlying condition.鈥
When Genetic Counseling Comes In
Family conversations can reveal patterns that are not always obvious. 鈥淭here鈥檚 a dual picture when it comes to heart health,鈥 says Weinmann. 鈥淭aken together, your personal health history and family history can tell you whether you鈥檙e at risk for a condition that鈥檚 genetically linked versus something that鈥檚 controlled by lifestyle factors.鈥
If you are being treated for a heart condition鈥攁nd especially if you have a close relative who also has been鈥攚here you receive care matters. Cardiologists at 91短视频 Langone Heart work closely with dedicated cardiovascular genetic counselors to determine whether inherited risk is part of the picture and if other family members should be evaluated. Genetic counseling is arranged through your doctor, so any testing is part of your overall cardiac care.
Who Should Be Tested?
Not everyone with family heart disease history needs genetic testing. If relatives developed heart disease later in life and had clear lifestyle risk factors such as high cholesterol, high blood pressure, smoking, or obesity, a primary care doctor can help manage those risks.
But if, for instance, you have multiple relatives with early unexplained heart disease, sudden cardiac death, aortic aneurysm, or an inherited arrhythmia, evaluation by a cardiovascular genetic counselor may be warranted. Such patterns can suggest inherited risk of heart disease that goes beyond lifestyle factors.
鈥淭he people who benefit most from genetic counseling are those with a family pattern that doesn鈥檛 fit the typical lifestyle-driven picture,鈥 Weinmann explains. 鈥淚t might be someone who ate well, exercised, and didn鈥檛 smoke, but who still had a heart attack in their 40s. Or a family where multiple people have had sudden cardiac death.鈥
Uncovering Your Genetic Clues
A genetic counselor reviews your family history, often going back three generations, along with your cardiovascular health history. If testing is appropriate, it involves a simple cheek swab, and results are typically available in two to three weeks. Before testing, the genetic counselor discusses what results you might get and what they mean.
鈥淭here鈥檚 a lot of uncertainty with genetic testing results,鈥 Weinmann notes. 鈥淚 walk patients through what different results mean, what鈥檚 suspicious, what鈥檚 just a normal human population variant, and what happens next.鈥
From Results to a Road Map
If testing reveals a mutation, it will help inform the next steps in your care. That may include imaging tests like an echocardiogram or cardiac MRI, earlier intervention, or starting preventive medications.
Genetic counselors at 91短视频 Langone Heart work directly with cardiologists, heart failure specialists, arrhythmia experts, and aortic surgeons to help guide personalized treatment and coordinated care. 鈥淭he goal is never just to give someone a diagnosis,鈥 Weinmann says. 鈥淚t鈥檚 to give them a plan鈥攖o help them understand what their genetic risk means and what they can do about it.鈥
The impact could extend to family members. 鈥淲hen we identify a genetic mutation in one patient, we recommend that their relatives鈥攑arents, siblings, children鈥攇et evaluated and possibly tested too,鈥 Weinmann explains. 鈥淭his is where we can make the biggest impact: by identifying family members who are at risk before they have symptoms or a crisis.鈥
Lifestyle Still Matters
Even with genetic risk, lifestyle changes can reduce heart disease risk. Regular cholesterol screening, blood pressure monitoring, a heart-healthy diet, at least 150 minutes of weekly exercise, avoiding smoking and excess alcohol, and managing stress are all important. The Center for the Prevention of Cardiovascular Disease has programs, videos, and other resources to help you reduce your risk and learn more about preventing heart conditions.鈥
鈥淲hen you know you have genetic risk, lifestyle changes become an essential part of your medical plan, alongside medications and monitoring,鈥 Weinmann says.
Take Action This Heart Month
Taking action for your heart health starts with a conversation with your relatives. Write down what you learn. If a pattern emerges鈥攅arly unexplained heart disease, sudden death, or a known inherited condition鈥攖alk to your doctor about a referral to cardiovascular genetic counseling within our specialized programs, including our Aortic Center and Heart Rhythm Center.
Heredity is not destiny. When inherited conditions are caught early, before symptoms or complications arise, outcomes can improve dramatically. 鈥淚f someone has a genetic predisposition to develop heart failure or an inherited arrythmia and we catch it early, their story is very different from someone who doesn鈥檛 know they鈥檙e at risk until they鈥檙e in end-stage disease,鈥 Weinmann explains.