Regular multidisciplinary meetings organized by the inherited arrhythmia team allow for presentation of a specific patient’s case in front of numerous members of the cardiology faculty and trainees, many of whom are also involved in clinical care.
Says Abrams, “We'll look at the imaging, we'll look at the pathology, we'll pull it all together and then finally we'll get into a really detailed and informed discussion. These are quite intense situations; they're very focused and allow us to present the case in a complete and coordinated fashion. By presenting the case in a much more open forum within the department, you open yourself to being challenged and give someone the chance to see something you've completely missed. They’re looking at it from a totally different perspective. It’s a really nice way to get different opinions and make sure that we're covering the situation properly.”
Close ties with cardiac translational research
Abrams is also optimistic about the program’s ties with cardiac research, having worked closely with the lab led by William Pu, MD. Pu’s team is honing the art of modeling heart disease in a dish. Together with researchers at Harvard’s Wyss Institute, they recently modeled catecholaminergic polymorphic ventricular tachycardia (CPVT) and can observe what happens at a tissue level when a patient with the disease exercises. They replicated the abnormal circular rhythms in CPVT heart muscle tissue, creating a tissue level equivalent of cardiac arrest. With this accurate lab model, the team hopes to test drug therapies without posing a risk to living patients (or even live animals).
The Pu lab is also looking for ways to prevent the rhythm disturbance triggered by adrenaline. “We want to figure out which proteins controlled by the adrenaline receptor are most important,” says Pu. “Is there some subset that interacts with the CPVT mutation to cause the arrhythmia? We’re hopeful this model will offer insight into new treatments.”
Another important application could be testing a patient’s response to medication before it’s prescribed, says Pu. “If we could take a sample of someone’s skin cells, create a personalized model of that person’s CPVT mutation and test the effect of flecainide, we could avoid the risk of side effects in patients who would not respond.”
Raising awareness and collecting regional data
“We think up to 50% of people who die suddenly and unexpectedly have a warning symptom for inherited heart disease prior to their death,” says Abrams. “Often, tragically, we hear families say, ‘If only we knew.’”
That’s why the team is committed to spreading awareness about inherited cardiac arrhythmias. Also, they’ve teamed up with the New England Congenital Cardiology Association to initiate a regional initiative and registry for sudden cardiac deaths. “By creating a regional strategy to care for inherited heart disease, we hope as many patients and families as possible will have access to comprehensive care, says Abrams. “It also allows us as physicians to understand the prevalence of inherited heart disease across the region. Fostering strong relationships and communication streams among other cardiologists in the region is vital.”
The program is also looking forward to hosting its second family symposium later this year, on the topic of CPVT. Says Abrams, “We held our first family conference on long QT syndrome in 2014, and it was a huge success. When we talk with these families, we do go through the molecular biology in some detail, but in a way that everyone can understand. We then go through the genetics, the lifestyle advice, what you can and cannot do, and present the latest research.”
Abrams says the plan moving forward is to host such a conference once a year.
The conferences epitomize the program’s approach and dedication to treating inherited cardiac arrhythmias. Family members, clinicians, and cardiac researchers are all important members of the care team, which is strengthened by multiple perspectives.
Connect with the Inherited Cardiac Arrhythmia Program team.