For people with inherited heart disease, it’s important to seek personalized care from experienced specialists in genetics and heart disease.
At the Stanford Center for Inherited Cardiovascular Diseases, our team provides diagnostic evaluation, genetic testing, and advanced treatment options. We help families with hypertrophic cardiomyopathy (HCM), familial hypercholesterolemia (FH), and other heart diseases that are passed down through families.
When Kristina turned 35, she decided to have a comprehensive physical exam. An electrocardiogram (EKG) showed that she has HCM. When her father died suddenly, she and her sister Monica became concerned about their own health. After seeing their cardiologists to learn more, the sisters were referred to Stanford for further evaluation.
Euan A. Ashley, MD, Kristina and Monica’s cardiologist at Stanford, describes HCM as one of the most common inherited cardiovascular diseases. In HCM, a change in the gene that codes for the heart muscle causes the heart muscle to become thicker and stiffer.
In many cases, people can have an inherited heart condition and not even know it. Sally says she had never heard of FH—much less knew that she had it—until she was 21. That was when both of her parents had had heart attacks and survived, luckily. Sally’s doctor referred her to Stanford.
Joshua W. Knowles, MD, Sally’s cardiologist at Stanford, describes FH as a condition caused by genetic mutations that affect the body’s ability to recycle LDL cholesterol. FH causes very high levels of LDL cholesterol in the blood, which translates to a higher risk for heart disease.
Dr. Ashley notes that, for people with rare conditions such as inherited heart disease, it’s important to seek a care team who sees a high number of patients. At Stanford, our inherited heart disease specialists have extensive experience with these conditions. Dr. Ashley, Dr. Knowles, and their colleagues see patterns in their patients that give them direct insight. And those insights can lead to ideas for new ways to treat inherited heart conditions, which can lead to new medications and other therapies.
Sally says that since she started coming to Stanford, she has gotten the best available information about FH and how to manage it. She often talks with her kids, who are in their 20s and also have FH, to make sure they’re taking their medicine and going to the doctor.
Colleen Caleshu, a cardiovascular genetic counselor at Stanford, notes that the team is really caring for the whole family. Patients come in for their own care, but the team is also thinking about their children, their siblings, their parents, their cousins.
Colleen points out that every single inherited heart condition that is known, to date, has a treatment. That’s why it’s important for people who have a heart condition in their family to get evaluated—even if they feel healthy. Because there is treatment, and that treatment can be lifesaving.
Monica says that when she was diagnosed with HCM, she joked to Dr. Ashley that they were going to be friends for a long time. Monica adds that the main feeling she has after her experience is gratitude.
