By Leslie Evans, MS, CGC; PGD Program Manager
February is Heart Health Month, a time to contemplate your diet and lifestyle choices to improve your heart health and lower your risk of cardiovascular disease. An estimated 17 million-plus people globally suffer a fatal heart attack, aneurysm or other cardiac complication1 annually. But if you are that one out of 100 individuals who has a genetic predisposition to a hereditary type of heart disease, choosing a carrot over a candy bar may not be enough.
Remember Bob Harper, the super-fit trainer from “The Biggest Loser”? Despite his healthy lifestyle, he nearly died from a massive heart attack a year ago while doing a regular workout at the gym at the age of 52. He later revealed that he did have a family history of heart disease on his mother’s side, and was found to have very high cholesterol levels. He has a personal and family history of several red flags for a genetic component playing a role in his near demise.
Having a genetic predisposition, also referred to as genetic susceptibility, means that a person has an increased likelihood or chance of developing a particular disease due to changes in important genes. Genes are the instructions that tell our bodies how to develop and function properly. Out of the 20,000-25,000 genes that we inherit from our parents, there are several genes that are important for a healthy cardiovascular system (CVS), which includes the heart and blood vessels.
Changes in certain genes can cause CVS diseases that include the following:
abnormality in the size, shape or tissues within the heart muscle (cardiomyopathies)heart-related birth defects that change the structure of the heart (congenital heart defects)abnormal heart rhythms (arrhythmias)weakening or rupture of an arterial wall (aneurysms)plaque build-up which narrow coronary arteries (coronary heart disease)heart attacks very high cholesterol levels
Our clinical team at Oregon Reproductive Medicine ask a series of questions during initial visits to identify our patients at risk for an inherited form of CVS diseases, starting with detailing any personal or family history of heart disease symptoms. The information collected includes the name of the diagnosis, age at onset of symptoms, and medications that are taken to manage symptoms.
The strongest red flags in your family history for a genetic form of CVS diseases is experiencing symptoms at a young age, including:
heart attack (death of the heart muscle due to blockage in the coronary artery) under the age of 55 for men or 65 for women sudden unexplained and accidental death, especially when occurring under the age of 40heart failure (heart muscle can’t pump blood around the body properly) under the age of 60
Other potentially significant findings include a personal or family history of heart transplantation, exercise intolerance, and fainting (known as syncope or pre-syncope). Having multiple family members who have had cardiac procedures (e.g. bypass surgery, or stents) and devices (e.g. pacemakers or defibrillators) may also be cause for concern. The existence of related conditions such as seizures, high cholesterol or sudden infant death syndrome (SIDS) should also be carefully considered in a patient’s risk assessment.
According to ORM physician Dr. Elizabeth Barbieri, “When a patient reports a personal or family history of significant for heart disease, we discuss two things:
For female patients, we might recommend they have an evaluation with a cardiologist, to be sure they do not have an underlying heart condition that would compromise their ability to safely carry a pregnancy. For couples in which one member has a significant history, the individual might benefit from a cardiac genetics risk evaluation to determine whether there is an inherited mutation causing the heart condition in the family. Some patients at increased risk for having children with a severe heritable cardiac disease would consider preimplantation genetic diagnosis [PGD] to prevent the condition from occurring in their children.”
For many women whose cardiologists have advised against getting pregnant due to their heart condition, ORM has enabled them to have a biological child through the help of a surrogate. We also have helped several healthy babies come into this world free from the gene mutation that afflicted their parents’ family. If you are ready to start planning your family and have a personal or family history of the features described, we recommend that you collect as many details about your family tree’s health history as possible and contact us for a complimentary appointment to discuss your options.
To learn more about hereditary heart disease, you may access a free hour-long webinar conducted by a genetic counselor and cardiovascular genetics expert Amy Sturm, M.S., through the following link: http://www.aboutgeneticcounselors.com/cardio. The webinar is sponsored by the National Society of Genetic Counselors (NSGC).