ST. JOHN'S – Terry Rideout experienced a life-altering moment as he loaded his fishing gear, feeling abrupt, powerful jolts of electricity surge through his chest. The tiny implant in his heart, a defibrillator, worked to restore his irregular heartbeat during a potentially life-threatening episode. “It felt like my chest was just blown apart,” he disclosed during a telephone interview from his home in Newtown, a quaint fishing community located along Newfoundland’s northeast coast.
Rideout suffers from arrhythmogenic right ventricular cardiomyopathy (ARVC), a heart condition stemming from a mutation in his genetic code leading to sudden and dangerous irregular heartbeats that could prove fatal. This genetic disease notably runs through families in specific regions of Newfoundland, acquiring the ominous moniker of the “Newfoundland curse.” The defibrillator implant, instrumental in keeping the condition at bay, initially left Rideout disoriented, as he found himself knocked backward into his shed more than two decades ago.
In a bid to explore alternative solutions, Jessica Esseltine, a biomedical scientist at Memorial University, is leveraging heart tissue cultivated in a petri dish to halt the disease's progression before patients require an implant. “We’re trying to figure out how this single gene change, this seemingly very small spelling mistake, can cause such huge changes in a heart cell,” stated Esseltine in a recent interview. Her aspiration is to eventually offer a cure for the condition.
The pathophysiology of ARVC arises from a single alteration within a gene’s molecular sequence, described by Esseltine as a “spelling mistake.” Kathleen Hodgkinson, a geneticist involved in early 2000s research, successfully identified the problematic gene and formulated a testing method thereafter. About 28 families from Newfoundland have been found to possess this gene, with others identified in Germany, Denmark, Norway, and Russia—all of which share genetic connections to the Newfoundland lineage.
According to Hodgkinson, families were deeply frightened upon discovering this familial condition, sharing heart-wrenching anecdotes of vigorous relatives who abruptly succumbed to cardiac events even after normal clinical assessments. “Being able to test people and put in the (defibrillator implant) has changed things enormously,” she noted, emphasizing that while it provided a measure of relief, it does not completely eradicate the disease nor provides a significant cure.
Rideout too faces considerable challenges with his condition. Every time his defibrillator activates, he must visit the hospital—often via ambulance— which incurs substantial costs. Furthermore, he must surrender his driver's license for six months as a safety precaution, all while enduring the gradual degradation of his heart prompted by ARVC.
This genetic predisposition has strong familial ties; Rideout inherited the gene from his mother, who passed it to all her sons. Sadly, the condition claimed the life of his brother Fred at the age of 45, a tragedy Norma Rideout recounted while driving him to the hospital when he passed away. “It’s always in the back of your mind,” she confessed, relieved that their children are currently unaffected by this condition.
Esseltine highlighted that in severe cases of ARVC, the decline in cardiac function can necessitate a heart transplant. By extracting blood or skin samples from ARVC patients, she creates stem cells and subsequently promotes their development into heart cells. Utilizing a gene editing technique, she aims to correct the genetic “spelling mistake” within these heart cells.
Currently, all research and development occur in a laboratory setting, yet Esseltine envisions a future where treatments could eventually involve repairing patients’ hearts with stem cells derived from their own skin or through sophisticated genetic engineering methods.
For her, collaborating with families like the Rideouts imbues her work with profound meaning and motivation. “It makes me want to do better, to move the research forward,” she remarked, acknowledging the real-world impact her research could hold for those suffering from this heart condition. Terry Rideout, now 55, remains hopeful despite his challenges, stating that while these advancements may not assist him directly, they could revolutionize the lives of younger generations facing similar struggles.
