If you have family members with cardiac issues, there may be underlying genetic factors you should know about. If the problems began at a young age or have another unusual factor, that’s an even bigger sign to pay attention. Even when a family member has been diagnosed, they may not have been evaluated to see if genetics is the cause. Yet, genetic conditions impact millions of people and numerous heart conditions have genetic components. These heart disorders can, unfortunately, show very few symptoms before reaching a critical state. Knowing your family history is important for proactive and preventative care.

Cardiovascular Conditions to Watch for in Your Family History

Heart muscle abnormalities

Cardiomyopathies are a group of diseases that cause the heart muscle to weaken, thicken, or stiffen. These diseases limit the heart’s ability to pump blood and can have serious complications. They may cause shortness of breath, fatigue, swollen legs or feet, chest pain, and irregular heartbeats. 

Treatment approaches include medication, implantable devices, or transplants. Early detection is essential for managing the condition and preventing heart failure or sudden cardiac death.

High cholesterol or triglycerides (lipid disorders)

Our bodies need cholesterol and triglyceride, but only in the right amounts. Problems arise when levels are too high or too low. Lipid disorders are major risk factors for cardiovascular diseases like heart attacks and strokes. The two most common types of lipid disorders are:

  • Hypercholesterolemia: This condition occurs when there is too much cholesterol in the blood, particularly low-density lipoprotein (LDL) cholesterol. LDL cholesterol is also known as bad cholesterol. High LDL cholesterol levels can lead to fatty deposits (plaques) in the arteries, increasing the risk of atherosclerosis (the hardening of arteries) and heart disease.
  • Hypertriglyceridemia: This refers to elevated levels of triglycerides (a type of fat) in the blood. High levels can contribute to atherosclerosis and increase the risk of heart disease, especially if combined with another lipid disorder.

Lipid disorders can be influenced by genetic factors (such as familial hypercholesterolemia), lifestyle, obesity, diabetes and certain medicines. Management typically involves diet changes, exercise, and sometimes drugs like statins to lower cholesterol and reduce cardiovascular risk.

High blood pressure in the lungs 

Pulmonary hypertension (PH) is a type of high blood pressure that affects the arteries in the lungs and the right side of the heart. In PH, the blood vessels that carry blood from the heart to the lungs become narrowed, blocked, or damaged. This change makes it harder for blood to flow through the lungs. Pressure increases in the pulmonary arteries and forces the heart’s right ventricle to work harder to pump blood through these arteries. Over time, this extra strain can weaken the heart and lead to complications such as right heart failure.

Pulmonary hypertension can be caused by genetic conditions as well as other diseases. Symptoms often develop slowly and include shortness of breath, fatigue, dizziness, chest pain, and swelling in the legs or abdomen. Catching and treating PH early can improve outcomes.

Blood clots

Having thrombophilia means you are at high risk of a blood clot, which can create blockages in your arteries or veins. These blockages can damage organs and cause a stroke or heart attack. If blood clots are common in your family or you had a blood clot before 40, a genetic condition may be to blame. Inherited thrombophilia can increase your risk of miscarriage and pregnancy complications. Once diagnosed, you can take medicine to help prevent blood clots. 

Problems with the aorta (aortopathy)

The aorta is the body’s largest artery. It carries oxygenated blood from the heart throughout your body. Diseases or abnormalities that affect the aorta are aortopathies. These conditions can cause weakening, enlargement (dilation), or other structural changes in the aorta. Complications include aneurysms (ballooning of the artery wall), dissection (tearing of the artery wall), or rupture, all of which can be life-threatening.

Aortopathies do not always have symptoms, especially early on. When symptoms occur, they may include:

  • A sharp, tearing sensation in the chest or back pain (particularly in aortic dissection)
  • Shortness of breath
  • Difficulty swallowing or hoarseness (when the enlarged aorta compresses nearby structures)
  • Fatigue or weakness
  • Loss of consciousness (if there is a major rupture or dissection)

Many aortopathies are associated with inherited conditions such as Marfan syndrome, Loeys-Dietz syndrome, or Bicuspid Aortic Valve Disease. Early detection is crucial, as untreated aortic disease can be fatal. The problem type and severity determines the treatment, which can include prescriptions, surgical repair, and lifestyle changes. People with aortopathies need regular monitoring and follow-up care.

Abnormal heart rhythms

For most people, the heart beats in a steady, regular manner. In people with arrhythmias, the electrical impulses that control the heartbeat become disorganized. The heart beats too fast (tachycardia), too slow (bradycardia), or erratically. Each type of arrhythmia has different causes and effects. Common symptoms include:

  • Palpitations (feeling of a rapid or irregular heartbeat)
  • Dizziness or lightheadedness
  • Chest pain or discomfort
  • Shortness of breath
  • Fatigue
  • Fainting in severe cases

Treatment varies based on the type and severity of the arrhythmia. Options include lifestyle changes, medications, electrical cardioversion (shock therapy), and catheter ablation (destroying abnormal tissue). In other cases, doctors may implant a device like a pacemaker or defibrillator to regulate the heart’s rhythm. Managing arrhythmias is vital to preventing stroke, heart failure, or sudden cardiac death.

Congenital Heart Disease

Congenital heart disease (CHD) refers to structural abnormalities in the heart that are present (but not always found) at birth. CHD occurs as the heart develops during fetal growth and is the most common type of birth defect. The defects can affect the heart’s walls, valves, blood vessels, or the overall structure and functioning of the heart. They range from simple conditions that may cause few or no problems to complex defects that could potentially become fatal. 

Many cases of CHD are associated with genetic conditions. Some people have no noticeable signs, while others develop symptoms shortly after birth or later in life. Common symptoms include:

  • Bluish tint to the skin, lips, and nails (cyanosis)
  • Rapid breathing or difficulty breathing
  • Poor feeding and failure to thrive in infants
  • Fatigue or weakness
  • Swelling in the legs, abdomen, or around the eyes
  • Irregular heartbeats or heart murmurs

Treating CHD depends on the defect type and severity. Doctors may use minimally invasive procedures such as catheter-based techniques to repair certain defects. In more severe cases, open-heart surgery may be done to repair or replace abnormal heart structures. Many people with CHD can lead normal lives with proper management. Some may require lifelong monitoring and treatment.

Genetic Evaluations for Cardiovascular Concerns

If you have a family history of the disorders described above or you have lost a family member to sudden cardiac death, talk with your doctor about a referral for a genetic evaluation. Seeing a geneticist can give you and your care team the information to understand and mitigate your risks. An evaluation can not only provide a diagnosis but also clarify the subtype of conditions like cardiomyopathies, arteriopathies, and arrhythmias.

A diagnosis can open the door to proactive planning and health management. Rather than a one-size-fits-all approach, you can receive personalized, targeted care. Genetic insights can guide clinical decisions, from medication choices to the timing of surgery and the device implanted. The data helps doctors tailor follow-up visits, enabling monitoring, early detection, and intervention. You may even qualify for clinical trials and future gene therapies.

Related Blog: Read more about how seeing a geneticist could offer a roadmap for heart health.

Notably, the benefits of a genetic evaluation go beyond your own care. A geneticist can give you an understanding of inheritance patterns, helping you shape family planning and spread awareness to other family members who may also have cardiovascular health risks. 

At SequenceMD, our genetics team works closely with our patients and their entire healthcare team to ensure you get the answers and care you deserve. To learn about our genetic evaluation and health management services, contact us today.