Family matters: Understanding genetic risk for heart disease

Screening for Genetic Heart Disease

When I’m determining whether a patient has a higher-than-average risk for cardiovascular disease, I ask about their past medical and family histories. If they have a first-degree relative – a father, mother or sibling – who has had a heart attack or has needed stents or bypass surgery at a young age (younger than 55 years old for a man and 65 for a woman), then that patient is considered to have a higher risk for developing coronary artery disease.

Patients shouldn’t wait to see a cardiologist to learn or share this information, however. There are numerous heart diseases and abnormalities that can be inherited, including rhythm abnormalities (called arrhythmias), cardiomyopathy (heart failure), bicuspid aortic valve disease, amyloidosis and connective tissue disorders, such as Marfan Syndrome. If you have a family member with one of these conditions, you may need medical evaluation and possibly an echocardiogram or a cardiac MRI to diagnose whether you share this condition and would benefit from early treatment.

You can also have an elevated risk for cardiovascular disease if you have family members with diabetes, high blood pressure or high cholesterol, which can have genetic predisposition.

Still, family history is just one component of your overall risk for developing cardiovascular disease. Your lifestyle also plays an important role. If you’re overweight, smoke, have a nutrient-poor diet or don’t exercise, then no matter how good your family history is, these lifestyle factors will negatively impact your health in the long term.

Preventing Inherited Heart Disease

Tell your primary care physician if you know of cardiovascular disease in your family. In order to increase your chance of preventing heart disease, be forthcoming, and do your best to have accurate, clear information. If you’re worried, share that with your doctor. It’s perfectly reasonable to want to see a cardiologist if you have a family history of heart disease, high cholesterol or high blood pressure.

Cholesterol

Young people also need to prioritize their heart health. It’s important to establish a primary care physician and have your cholesterol checked at least once after the age of 20. Screening can detect if you have high levels of low-density lipoprotein (LDL) – frequently known as “bad cholesterol” – and if lifestyle modifications (such as improving diet and exercise) or starting a statin or lipid-lowering medication might be necessary to help significantly reduce and delay your risk of developing coronary artery disease.

Blood Pressure

High blood pressure, another risk factor, usually goes undetected for many years. Normal blood pressure is 120/80, and elevated blood pressure begins when the systolic (the first number) reading starts to increase above 120, according to current guidelines. Yet, people may have no symptoms when their systolic reading is in the 140s, 150s or 160s. Eventually, however, high blood pressure – also known as hypertension – can increase your chance of cardiovascular disease. Fortunately, checking your blood pressure has never been easier. Many pharmacies and grocery stores offer free blood pressure test machines. Check your blood pressure frequently.

If you know you have a family member with heart disease, heart blockages, high cholesterol or high blood pressure, you should be vigilant about reducing your other risks. Don’t smoke. Get active, exercise routinely and eat a balanced diet.

Lifestyle

Obviously, we all have ingrained habits that are hard to change. Radical diets may work in the short term, but not in the long term. Start with small changes. Data suggest patients on a Mediterranean diet do significantly better from a cardiovascular perspective, so I recommend the following: Eat more fruits, vegetables and fish and less red meat and fried foods. You’re entitled to have your “cheat” meals occasionally, but make that a once- or twice-a-month treat.

If you’re reading this, you are taking the first step towards better heart health. But for every person set on learning about their risk for cardiovascular problems, there’s often a person who doesn’t want to know. They may feel uncomfortable, even afraid, because they lost a family member to an inheritable heart problem. It helps to remember that knowledge is power. Understanding your risk means that you can protect yourself – and any family members you have who will benefit from knowing your cardiovascular condition.