Research
The Vanderbilt Atrial Fibrillation Precision Medicine Research Program grew from Dr. Ben Shoemaker’s research involving large genetic biorepositories, the Vanderbilt AFib Registry and the Vanderbilt AFib Ablation Registry, which have enrolled over 7,500 participants to date.
DNA samples from the registries have undergone sequencing through NIH-funded programs, and in 2018 they were included in a ground-breaking study conducted by the international AFib Genetics Consortium. Rare genetic variants in a gene called TTN were discovered in an unexpectedly high proportion of young patients with atrial fibrillation (2-6%).
In his clinical practice, Dr. Shoemaker cared for patients with TTN variants who had developed Dilated Cardiomyopathy and began to consider if this recent discovery from young patients with atrial fibrillation could suggest a new strategy:
Could testing young patients with AFib be a way to identify genetic heart diseases earlier and improve their long-term outcomes?
Subsequent research by Dr. Shoemaker and his collaborators supported this idea and added urgency to their investigations.
If patients with TTN variants can develop atrial fibrillation years to possibly decades before they develop more severe cardiac dysfunction such as heart failure and life-threatening ventricular arrhythmias, is the same true for other genes that cause genetic heart disorders?
To investigate these questions, Dr. Shoemaker’s team published a study in 2021 from 1,293 patients with early-onset AFib and found that 11% of patients diagnosed with AFib before age 65 and 17% of patients diagnosed before age 30 had positive genetic testing in a panel of 145-genes that are included on widely available tests currently used in genetics clinics.
This discovery was followed by a study published by Dr. Shoemaker’s team in 2022 that showed patients with atrial fibrillation who had positive genetic testing had a higher risk of mortality, specifically from heart failure and sudden death. At that point it became clear that genetic testing in younger patients with atrial fibrillation could help identify patients at higher risk who need closer surveillance and personalized care strategies.
The international cardiology community agreed, and in 2022 and 2023, new guidelines were released from professional societies around the world. For the first time, experts recommended genetic testing for select patients with atrial fibrillation.
Concurrent with these announcements, Dr. Shoemaker’s team launched the world’s first Atrial Fibrillation Precision Medicine Clinic in April 2023.The clinic focuses on the genetic evaluation of patients with early-onset atrial fibrillation and development of personalized care strategies to treat atrial fibrillation and prevent the development of more advanced stages of cardiac disease.
Current Early-Onset Atrial Fibrillation Research
This is a registry of patients who developed atrial fibrillation before 65 years of age who are suspected to have a genetic susceptibility for it based on their overall clinical profile. As part of this registry, we are hoping to learn what genetic causes of atrial fibrillation may be responsible for affecting other conditions involving the heart. We also are hoping to learn more about how to personalize a patient’s care based on their genetics.
By participating in this registry, you would agree to allow us to tell you your genetic results and to re-contact you in the future if a potential treatment becomes available based on your genetics.
This study is looking at the genetic causes for atrial fibrillation. We are recruiting patients who were diagnosed with atrial fibrillation before 65 years of age and who have already completed genetic testing. We are recruiting some patients with normal genetic testing and some patients with abnormal genetic testing. Visit the Vanderbilt Trials Today website for more information
Interested in learning more about our research?
Please contact afibgenetics@vumc.org or fill out our contact form.