Understanding your family’s heart history can be life-saving
In David Fillippo's family, there's a strong history of heart disease. He lost his mother to sudden cardiac arrest when she was just 50 years old, and his aunt and three of his uncles succumbed to cardiac issues as well.
For more than a decade, David, now age 71, has been under the care of cardiologist Aaron Giltner, MD, at Paoli Hospital, part of Main Line Health. Dr. Giltner diagnosed David with atrial fibrillation (AFib) — a rapid and irregular heartbeat — and has also treated him for several aortic stenoses ― a heart valve disease where the aortic valve narrows, reducing or restricting blood flow. In 2021, David underwent a transcatheter aortic valve replacement (TAVR) procedure with Basel Ramlawi, MD, FACS, FACC, system chief of cardiothoracic surgery at Main Line Health.
It was in June 2022 when David began experiencing unusual palpitations, and a wearable heart monitor Dr. Giltner prescribed indicated a string of lower-chamber heartbeats. He recommended that David see his colleague Matthew A. Goldstein, MD for consultation.
Getting to the heart of the matter
"David's monitoring device had picked up on a series of rapid heartbeats in the lower chambers of the heart, a condition known as ventricular tachycardia (VT)," explains Dr. Goldstein. "If a VT event is long enough, it can be dangerous and sometimes life-threatening. Even though David's event was very short, it was concerning enough that Dr. Giltner sent him to me for evaluation."
During their first visit, Dr. Goldstein talked with David not only about his symptoms and personal history of heart disease, but also David's family history.
"David described that some people in his family had died unexpectedly," says Dr. Goldstein. "The presumption was this was due to a heart attack, but when I hear that, my ears perk up, as most people do not die suddenly due to heart attacks with no preceding symptoms at a young age. It's generally because of an underlying heart rhythm disorder. I knew I needed to learn more about David. There are two ways I can do that. One is a detailed examination of the heart through a cardiac MRI, which I ordered. The second is referring him to our cardiogenetic program."
Main Line Health's Cardiovascular Genetic Testing and Counseling program
Many cardiac disorders can be inherited, meaning they're related, in part, to genetics. These disorders include arrhythmias, cardiomyopathies, congenital heart disease and high cholesterol, among others.
Main Line Health introduced the Cardiovascular Genetic Testing and Counseling program in 2019 under the umbrella of the general Genetics and Risk Assessment Program, which also offers cancer genetics and prenatal genetics. Most genetics programs at other institutions do not have a cardiovascular branch, as this is a newer area of testing.
David was already familiar with this service. He had watched a recent segment on 6abc Action News featuring John M. Clark, DO, who is the medical director of the cardiovascular genetics program at Main Line Health. At Dr. Goldstein's recommendation, David immediately scheduled an appointment to meet with board-certified genetic counselor Cristina Nixon, MS, LCGC.
Exploring David's genetic predisposition
"David knew he had a lot of family members with heart-related issues and several who passed away suddenly at younger ages, but there wasn't a lot of specific clinical information to understand whether these issues were due to coronary artery disease, cardiomyopathy, arrhythmia or another cause," says Cristina. "In this case, genetic testing is extremely helpful, as the findings inform the medical team what type of screening is needed for David."
Based on David's personal and family history, Cristina ordered two large gene panels involving 134 genes. There are over 200 genes total in cardiogenetic testing, and the combination of genes is customized for each patient. Since there was limited information about the causes in David's family, the team cast a large net.
David's test results showed he had a pathogenic variant — more commonly known as a mutation — in his DSG2 gene. This gene is associated with arrhythmogenic right ventricular cardiomyopathy (ARVC) and dilated cardiomyopathy. In addition to sharing the results with David's cardiology team, Cristina and Dr. Clark met with him to thoroughly explain what this meant.
David opted for that appointment to be conducted via telehealth. A huge fan of Main Line Health throughout his lifetime, he arrived on screen wearing a Main Line Health T-shirt!
Knowledge is power
"Having this mutation doesn't mean David will develop either of the associated conditions, but it does indicate he has an increased risk due to genetic predisposition," explains Cristina. "His cardiology team is then able to conduct further screening tests and take other appropriate actions to detect it early if it does arise. This is also valuable information for his family members, who can choose to undergo genetic testing to determine if they, too, carry the DSG2 gene mutation and would benefit from ongoing screening. Having this knowledge literally saves lives."
David's genetic testing provided Dr. Goldstein with greater insight into the likely underlying condition that was causing the VT that appeared on David's heart monitor and his symptoms ― much more than the MRI study alone could have done.
"His imaging showed us small areas of scar tissue on David's MRI, but without the genetic testing we could not decipher the exact heart condition that resulted in the scarring, or how it would affect him prognostically and therapeutically," says Dr. Goldstein. "Clinically, he didn't fit into any classic profiles. His condition usually presents with problems in the right ventricle, but all of David's issues were with the left ventricle."
Dr. Goldstein describes this as an unusual presentation of what is already an unusual condition.
"His genetic diagnosis allowed us to fit David into a known condition where the prognosis and recommended therapy are straightforward," says Dr. Goldstein. "We were able to give him clarity, explain the cause and follow specific medical guidelines to treat him."
Addressing the concerns
Following an electrophysiology study, Dr. Goldstein implanted a loop recorder in David's chest to continuously monitor his heart rhythm. This small device — the size of a matchstick — is placed just under the skin of the chest during a minor procedure in the physician's office.
The loop recorder then sends out different levels of alerts if it detects an irregular, abnormal or a dangerous heartbeat. Depending on the severity of the condition, the device automatically contacts Dr. Goldstein's office and he receives the notification. If David experiences multiple minor events, Dr. Goldstein can intervene before a more significant life-threatening event occurs. And if there is a major event — an urgent red alert — the device immediately contacts the doctor on call.
Dr. Goldstein reviews David's loop recorder reports on an ongoing basis. And he sees him for an office visit twice a year. He describes David as an incredibly inquisitive and informed patient, an active participant in his own care and his own best advocate.
"Dr. Goldstein and his amazing team told me I'd feel much more secure with the loop recorder implanted, and they were right," says David. "I no longer worry about the potential impact my family history might have on me at some point, because I now understand it. Before genetic testing and getting my device, I never felt settled. Now I do."
These days, while David is "officially retired," he fills his time working on both his house and his daughter's house. He rides his stationary bike at home, lifts light weights and stretches regularly. His greatest passion is music, and he loves toying around with his two digital pianos, a ukulele, a guitar and an accordion.
He reports that he feels fantastic and is enjoying every moment of life with his wife of 48 years, Betsy, and their two adult daughters. His oldest daughter has since undergone genetic testing at Main Line Health and does not have the DSG2 gene.
"Too many people don't understand the impact genetics can have on their health," says David. "If you have any kind of family history, especially a repetitive illness in your family like I do, you should get tested. It doesn't hurt a bit. And you can gain really valuable information. I received such great care at Main Line Health throughout the entire process and I'm so thankful for that. There's no better place in the world."
Meet Aaron Giltner, MD
Meet Basel Ramlawi, MD, FACS, FACC
Meet Matthew A. Goldstein, MD
Learn more about the Cardiovascular Genetic Testing and Counseling Program