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

By Katie Agre, MS, LCGC · Sep 2019

In celebration of World Heart Day (September 29), this post focuses on cardiovascular genetics — a unique subspecialty within genetic counseling that focuses on assessing risk of hereditary cardiovascular disease in patients and families.

What Cardiovascular Genetics Covers

Indications for cardiovascular genetic counseling include 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, early-onset heart disease, and high cholesterol.

Familial Hypercholesterolemia (FH)

FH affects about 1 in 220 people, yet over 90% of individuals in the United States are unaware they have it. FH causes high total and LDL cholesterol from birth, increasing the risk of early heart disease. Two red flags to watch for: LDL ≥190 mg/dL in adults (≥160 in children), and a family history of early-onset heart disease or heart attacks. Genetic testing provides a definitive diagnosis and allows family members to be tested too. Earlier detection means earlier treatment and lifestyle modification — both of which can be genuinely life-changing.

You can look and feel completely healthy and still have FH. If you are concerned, begin a conversation with your healthcare providers or seek genetic counseling directly.