Cardiogenetics helps refine management for patients and families

Cardiovascular genetics has rapidly evolved. Today, cardiogenetics can significantly impact treatment and management of cardiovascular disease in patients whose condition has a genetic component. This information is relevant not just to the patient but to other family members who may be at risk as well. However, the number of patients referred for this testing has lagged behind its potential. For more than 10 years, the Inova Cardiovascular Genomics Center has provided comprehensive cardiovascular genetic testing and counseling, expanding access to this crucial information.

Cardiologist and heart failure and transplant specialist Palak Shah, MD,

Director of the Inova Cardiovascular Genomics Center and Medical Director of Mechanical Circulatory Support for Inova Fairfax Hospital, answered questions about the latest developments in cardiovascular genetics, how it can make a difference for patients and how to refer a patient for testing.

Q: How prevalent are genetic mutations in cardiovascular disease?

A. While not every cardiovascular disorder has a clearly defined genetic component, there are some conditions that have a strong correlation with genetic mutations. Among them are:

• Hypertrophic cardiomyopathy – 40% to 60%
• Dilated cardiomyopathy – 20% to 40%
• Arrhythmogenic right ventricular cardiomyopathy – 30% to 50%
• Familial hypercholesterolemia – 60% to 80%
• Inherited arrhythmia syndromes – 20% to 40%
• Sudden cardiac death – 2.5%
• Aortopathies – 20% to 35%

Patients with these conditions can benefit from cardiovascular genetic testing, and I encourage my colleagues to refer these patients.

Q. What is the biggest challenge in cardiovascular genetics currently?

A. Underutilization of cardiovascular genetic testing and lack of access to genetic counseling resources for people living with cardiovascular disease are the two biggest challenges. We have increasingly sophisticated testing capabilities that can provide impactful information to patients and families, but those patients need to be referred from cardiology providers in order to benefit.

Q. How has cardiovascular genetics evolved over the last few years?

A. Even though underutilized, cardiovascular use of genetic testing has grown over the past decade. A lot of this growth has been driven by recognition that several major cardiovascular diseases have a strong genetic/inheritable component.

As we have learned more about the genetic underpinning of many common cardiovascular disorders, we developed the ability to do testing for those specific genetic conditions. As a field, we’re learning a lot more about the genetic architecture of these conditions, and we’re also identifying more patients whose cardiovascular disease has a genetic cause. A genetic diagnosis allows for incorporation of personalized patient management.

Q. Why does it matter knowing if patients have a genetic component to their cardiovascular disease?

A. It helps in several ways. First, it is important for risk stratification. For example, it can help pinpoint a dilated cardiomyopathy patient’s risk of sudden cardiac death or the risk of aortic aneurysm rupture in a person with an aortopathy. It can also help guide treatment decisions, determining, for example, how aggressively a patient with familial hypercholesterolemia should have cholesterol levels managed.

Understanding the underlying genetic mutation or genetic contribution to their disease can help connect patients with specific, targeted therapies that they may benefit from. There are specific drugs that may be available through clinical trials and clinical research that are being used to target specific genetic mutations, for example. In the case of a dilated cardiomyopathy patient whose genetic mutation carries an increased risk of sudden cardiac death, for instance, they may benefit from placement of a defibrillator as a primary prevention device at a much earlier stage in their disease course.

Finally, it can help not just the patient but the patient’s family, impacting exponentially more people. In the field of genetics, we’re not just focused on the patient who’s sitting in front of us. We’re also thinking about the patient’s entire family, because most of the genetic abnormalities that cause cardiovascular disease are autosomal dominant with a 50-50 chance of inheritance. Our entire team, not only the physicians but also our genetic counselors, are really focused on engaging the entire family in a discussion around some of the genetic implications, the cardiovascular implications and what the testing strategy may look like.

Q. What is the patient experience like at the Inova Cardiovascular Genomics Center?

A. We provide genetic counseling services for both adult and pediatric patients.  Our team of cardiologists with specific clinical expertise as well as genetic expertise work in collaboration with our genetic counselors to assess a patient’s underlying cardiovascular disorder. Our workup includes a three-generation family pedigree, so we can understand the patterns of cardiovascular disease within the family. Then, we offer comprehensive pretest counseling for patients and other family members who are interested in in genetic testing.

We will review the risks and benefits of genetic testing. We’ll go over costs and some of the concerns around insurance and billing. And if the patients are interested, we’ll facilitate genetic testing as part of that initial visit.

For those patients who already have a cardiologist, we provide targeted recommendations based on results of the genetic testing. However, the referring cardiologist manages ongoing clinical management. For patients and families who don’t have cardiologists already, we’re happy to provide comprehensive cardiovascular services as needed. It’s important to have both pediatric and adult specialists collaborating to provide family-centered care, and our center provides that as well.

Q. How can providers refer a patient to the Inova Cardiovascular Genomics Center?

A. For more information about the program, or to refer a patient (pediatric or adult):

• Email InovaGenetics@Inova.org
• Call 703-776-7665