Using genetic testing to detect and treat heart disease early
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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 (VUSes) 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.
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