Why take heredity to heart?  It’s simple – heart disease is the number one cause of death for men and women, and is highly preventable!  It’s also quite common to have a hereditary predisposition to heart disease in your genes.  In fact, more than 1 in every 100 people has a genetic risk for a hereditary type of heart disease.  Common hereditary forms of heart disease include:

  • Aneurysms (bulge in a blood vessel)
  • Arrhythmias (abnormal heart beat)
  • Cardiomyopathies (heart muscle diseases)
  • Congenital heart diseases (heart-related birth defects)
  • Coronary artery disease and heart attacks
  • High cholesterol conditions such as familial hypercholesterolemia

The first step to knowing whether you might have a risk for hereditary heart disease is unraveling your family history.  A few general rules of thumb are that most hereditary cardiovascular conditions are relatively common diseases, such as arrhythmias and heart failure.  But when they run in families, they often affect people at a much younger age and can be more severe.  With hereditary heart disease, there are typically multiple family members with the same, or related, heart conditions.  However, even when just one family member has  heart disease or sudden cardiac arrest or death at a young age, that can indicate a possible genetic heart condition.

In thinking about next steps, here are five keys to your genetic heart health:

Key #1: In addition to young age of onset, there are additional “red flags” for hereditary heart disease you can be on the watch for in your medical and family histories.

Key #2: Many types of hereditary heart disease are preventable with medication or other types of treatment and can be screened for in families.

Key #3: Early detection and diagnosis is essential. This gives the greatest chance of preventing complications, including sudden cardiac arrest, which is when the heart suddenly stops beating.

Key #4: Finding the genetic cause of heart disease in the family makes it possible for children and other relatives to know whether or not they are at risk. This can be done through genetic testing.

Key #5: Genetic counselors work with you to understand your genetic risk, your children’s risk, genetic testing and its results, and what you can do about them!

So, who are cardiovascular genetic counselors? We are genetic counselors who specialize in the area of cardiology, genetic forms of heart disease, cardiovascular genetic testing, and the unique psychosocial issues families with these conditions face.  We are “translators, logistics managers, sources of information, coaches, encouragers, guides, and advocates in the foreign lands of a potentially deadly genetic condition,” according to one of my patients.

In sum, the value of cardiovascular genetics information is that it can:

  • Make, or confirm, an official diagnosis
  • Provide information on inheritance pattern
  • Direct screening and treatment, such as heart imaging and medications
  • Prevent heart disease and sudden death in families

Determine which family members inherited the genetic risk and which did not in families where genetic testing has provided an informative result.

By finding those at risk for genetic types of heart disease early, lives will be saved.  Even though we cannot change our family history or DNA, knowing our risk allows us all to develop a personalized prevention plan and to share this knowledge with loved ones.

You hold the keys to your genetic heart health! Find a genetic counselor in your area by using NSGC’s “Find a Genetic Counselor” tool.
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Amy Sturm, MS, CGC, LGC is a cardiovascular genetics expert for the National Society of Genetic Counselors and a Professor and the Director of Cardiovascular Genomic Counseling at the Geisinger Health System Genomic Medicine Institute.

This blog first appeared February 28, 2017 on the National Society of Genetic Counselors website and is reposted here with permission. 


Amy Curry Sturm