Cardiogenetics

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Using genetic testing to detect and treat heart disease early

Until recently, we’ve had to rely on clinical findings, EKGs and imaging to diagnose and treat some dangerous heart problems known to have strong genetic components. Unfortunately, this often occurred after symptoms and heart damage had begun. Cardiogenetics is a new tool that can help us improve screening and detection of certain inherited heart conditions and intervene early to prevent future health problems.

As an early adopter of this evolving practice, our team is making great strides on two fronts: offering genetic testing for people with hereditary cardiac conditions and their family members, and advancing research into the genetic factors of diseases, such as coronary artery disease. Our experts are working to identify the genetic risks that may predispose some people to such conditions. We are determined to enhance diversity in genomic research in order to understand how diseases manifest differently in people.

Genetic testing for heart conditions is both art and science, with no single genetic test. In long QT syndrome, for example, there are 15 causative genes known to date. Even when the right test is ordered, interpretation of test results is not always straightforward. Just because a change is identified, it doesn’t always mean it is the answer for that person and family. Variants of uncertain significance (VUS) must be researched and classified as disease-causing or benign.

Because of the field’s newness and complexity, guidelines advise that cardiogenetics testing only be carried out by dedicated centers like ours that offer genetic counseling before and after testing. A genetic counselor certified in cardiology will work with the individual and family to help them understand the various implications of results and options so they can make fully informed decisions. If tests identify a genetic mutation, we may recommend regular monitoring and avoiding certain things, such as some medications or strenuous exercise.

Heart conditions that might be suitable for genetic testing

Cardiogenetic testing is simple for the patient—we collect only blood or saliva samples. However, it’s only used for a subset of structural heart conditions and arrhythmias (abnormal heart rhythms) known to have a monogenetic cause, meaning the disorder is caused by a single mutation in one of a number of known genes.

These conditions can include:

Arrhythmogenic right ventricular cardiomyopathy (ARVC)
Brugada syndrome
Catecholaminergic polymorphic ventricular tachycardia (CPVT)
Familial cardiomyopathy
Familial hypercholesterolemia
Familial TTR amyloidosis
Hypertrophic cardiomyopathy
Long QT syndrome (LQTS)
Marfan syndrome
Short QT syndrome (SQTS)

Cardiogenetic testing may be recommended when certain signs point to a possible underlying genetic component, such as:

Diagnosis of heart failure at age 40 or younger
Fainting or palpitations during exercise
Multiple family members with the same heart condition
Sudden, unexpected death in the family due to heart disease
Suspicious findings during some heart tests

For more information about cardiogenetic testing, please call (202) 877-4363.

Hillary Porter - Genetics Counselor

Hillary Porter, MS, CGC, is a certified genetic counselor at MedStar Heart & Vascular Institute. Her practice focuses on patients whose cardiovascular conditions may have an underlying genetic cause. This subset may include patients with heart failure, inherited forms of cardiomyopathy, arrhythmias, aortopathies, lipid disorders, and cardiac amyloidosis, as well as patients with family history of cardiac disease, cardiac arrest, or sudden death. She helps manage medical care and guides screenings for family members when a genetic cause is the underlying cause to the cardiovascular disease.

Hillary Porter works with referring physicians to determine which tests should be ordered for patients. She provides pre-test counseling for patients to review the implications of genetic testing and provides familial risk assessment and education. She works alongside patients and their physicians to explain the nuances of genetic test results and what they might mean for each unique case. These services are available to patients across the region and counseling appointments are completed in person or via telemedicine.

Philosophy of care: “Genetic information is often not straightforward, and I strive to break down complex topics in a way that patients can understand. As we continue to learn more about genes related to heart disease, I can provide useful information to patients and their families. A genetic cause can guide cardiac surveillance and management recommendations. It also helps us identify other at-risk relatives and potentially prevent serious complications. patients, my goal is to help them feel empowered and involved in their medical care.”

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