Getting to the Heart of it All: Cardiovascular Genetics and Familial Hypercholesterolemia

By Katie Agre, MS, LCGC


World Heart Day was September 29 this year and in celebration of the human body’s amazing cardiovascular system, this blog post is focused on cardiovascular genetics and genetic counseling.

Cardiovascular genetics is a unique subspecialty within genetic counseling that focuses on assessing risk of hereditary cardiovascular disease in patients and family.

What comprises cardiovascular genetics?

There are many different indications for cardiovascular genetic counseling including personal or family history of cardiomyopathy, arrhythmia, aortic aneurysm and/or dissection, familial amyloidosis, congenital heart defects, pulmonary arterial hypertension, sudden cardiac arrest or death, and others.

Individuals may also seek cardiovascular genetic counseling based on personal or family history of early-onset heart disease or high cholesterol.

Familial Hypercholesterolemia (FH)

A genetic condition called Familial Hypercholesterolemia (FH) is one of the most common genetic conditions (about 1/220 people) yet over 90% of individuals in the United States are unaware they have this condition. This condition predisposes individuals to developing high total and LDL (also known as “bad” cholesterol) and over time this increases the risk of heart disease.

Could you have FH?

You can look and feel healthy but still have FH. There are two main red flags to watch for to determine if you could have FH:

  1.   High levels of LDL cholesterol (≥190mg/dL in adults; ≥160mg/dL in children)
  2.   Family history of early-onset heart disease or heart attacks

Genetic testing is the best way to diagnosis FH as it provides a definitive diagnosis and allows for family members to be tested too. Earlier detection of FH provides the opportunity for earlier treatment and lifestyle modifications.

Genetic counselors meet with individuals affected by or at-risk for cardiovascular disease. This consultation typically involves obtaining medical and family history and discussion of cardiogenetics. The genetic counselor can help you determine if your personal and family history is suggestive of a genetic disorder and what screening may be appropriate. You can also discuss the option of genetic testing with a genetic counselor who can inform you of the pros, cons, limitations, and logistics of the genetic testing process. 

If you are concerned you may have FH or another genetic cardiovascular disease, begin a conversation with your healthcare providers! You can also seek genetic counseling and determine if you may be a good candidate for genetic testing. Genetic testing can have implications for your health management and could allow for your relatives to better understand their risk of cardiovascular disease.

Go here to book genetic counseling.


Further Reading & Resources

Sturm, A.C., Knowles, J.W., Gidding, S.S., et al. (2018). Clinical Genetic Testing for Familial Hypercholesterolemia. JACC Scientific Expert Panel. Journal of the American College of Cardiology 72 (6): 662-80.

For more information about Familial Hypercholesterolemia, please visit:

Do you meet genetic testing criteria for hereditary breast cancer risk?