Author + information
- Michael J. Ackerman, MD, PhD∗ ()
- ↵∗Reprint requests and correspondence:
Dr. Michael J. Ackerman, Mayo Clinic, Windland Smith Rice Sudden Death Genomics Research Laboratory, 200 First Street, SW, Guggenheim 501, Rochester, Minnesota 55905-0001.
Flash back 20 years ago to Bethesda 26. Sports participation and athletes with clinically manifest long QT syndrome (LQTS) were viewed as “oil and water,” essentially a “no-can-do” combination (1). Then, a decade later in 2005, Bethesda 36 and the European Society of Cardiology (ESC) updated their respective “sports exclusion stances” of the previous millennium (2,3). After the revelation of the genetic underpinnings of LQTS in 1995 and 1996, the subpopulation referred to as “normal QT interval” LQTS or “concealed” LQTS or genotype-positive/phenotype-negative LQTS emerged.
In recognition of its emergence, Bethesda 36 reasoned that subjecting this increasingly recognized and now genetically detectible subpopulation of patients with LQTS to the same disqualification recommendation as those with manifest LQTS and previous presentation with sudden cardiac arrest was excessive and probably unnecessary. As such, the guidelines carved out essentially a sports exemption clause for athletes with this kind of LQTS. Simultaneously, however, the 2005 ESC criteria for competitive sports participation remained rigid, even barring athletes from competitive sports solely on the basis of positive LQTS genetic test results. In other words, a single nucleotide substitution translated into not only a single amino acid substitution but also a premature truncation from all competitive sports. Even the Bethesda “safe 6” (Class IA) sports of billiards, bowling, cricket, curling, golf, and riflery have not been offered to this subpopulation of patients with LQTS in Europe.
Recently, the rigid proscription from athletic participation has begun to change with the rise and application of shared decision making to this complex and challenging issue. In 2013, this shift in philosophy was echoed officially by the international Heart Rhythm Society, European Heart Rhythm Association, and Asia Pacific Heart Rhythm Society guidelines, whereby now, this issue is met with a class I recommendation stipulating essentially that an athlete with LQTS who desires to remain an athlete should be evaluated by an expert in LQTS (4).
How has this transformation begun to occur? For nearly 2 decades, buttressed by one of the Mayo Clinic’s foundational tenets that the “best interest of the patient is the only interest to be considered” and the emerging tenet of patient and family autonomy and respecting their right to make a well-informed decision, we wondered why this approach could not apply even to athletes with LQTS. In addition, the now classic line “I don’t get it,” spoken by Tom Hanks in the now classic 1988 movie Big, inspired us to dare to raise our hand, like Tom, and say “I don’t get it” as it related to expert opinion inclinations at the time that favored the proscriptive leanings. For patients seen at the Mayo Clinic, and evidently at a few other institutions, the emphasis has shifted away from rigid exclusion from sports, which although underpinned by valid concerns and noble intentions, may have been driven in part by medicolegal concerns. The challenge of this revolution has been augmented by the general tendency toward regulation and risk aversion in medicine and society in general.
With this “radical” approach initiated, we believed that it was critical to carefully scrutinize the consequences and outcomes realized from this approach (5,6). First, contrary to previous speculation, athletes with LQTS and their families are fully capable of self-disqualification during a shared decision-making evaluation, as nearly 20% of our athletes with LQTS chose to disqualify themselves. Second, among the majority who chose to remain athletes, the LQTS-triggered event rate has been low (1 in 650 athlete-years when published and now 1 in more than 1,000 athlete-years) and nonfatal.
In light of the tension between regulation risk aversion and shared decision making and patient autonomy and the difficult decisions we have shared with our patients over many years, I read with great interest the original contribution by Aziz et al. (7), which lends independent observational evidence supporting our data and approach. In this issue of JACC: Clinical Electrophysiology, Aziz et al. (7) share the Children’s Hospital of Philadelphia’s evolving experience with respect to the issue of sports participation in 103 children with LQTS who remained engaged in either competitive sports (n = 26) or recreational sports (n = 77). Akin to our sentinel publication, they too observed a negligible event rate in more than 750 patient-years of follow-up. In fact, their event rate during sports participation was zero. Furthermore, considering that their cohort included pre-pubertal boys and post-pubertal girls, it certainly contained patients within their respective sex-specific peak windows of LQTS vulnerability.
What are the next steps to advance the field? Despite these 2 observational datasets suggesting that sports and LQTS may be an acceptable combination, it is absolutely critical that a complacent and cavalier attitude be resisted, in order to: 1) keep the pendulum where it resides; and 2) ensure that this enlightened approach is comfortably and confidently embraced by LQTS specialists throughout the world. In other words, there must be a healthy dose of reverence and fear regarding the possibility of a LQTS-triggered event, including the potential for a fatal one, to occur during sporting activities both competitive and recreational. Make no mistake, aerobic activity is a potential risk-taking behavior for patients with LQTS in general, type 1 LQTS in particular. That is not the question. That has never been the question. The question is whether that increased risk can be circumvented, neutralized, or minimized in other ways besides elimination of that specific risk-taking behavior by its removal (i.e., sports disqualification).
We have concluded that the answer is unequivocally yes, and so have Aziz et al. (7). However, in tight linkage disequilibrium is the need for a robust diagnostic, prognostic, and therapeutic program that is tailored exquisitely to each patient. As noted in their work, adherence was at a premium, and the investigators generally treated their patients with the highly preferred beta-blocker nadolol, while avoiding in almost every patient but one the beta-blocker atenolol, which might be inferior in its LQTS protection (8).
To that end, the 2013 LQTS-specific guidelines got it absolutely right (4). Return-to-play deliberations for athletes with LQTS must be executed by LQTS experts to ensure that the athletes and their family members have been well informed, well risk stratified, and well treated so that they truly can make well-informed decisions, knowing full well that an LQTS-triggered faint or funeral could still occur. Case in point: I was delighted that the athlete with previously symptomatic type 1 LQTS had been disqualified by his primary heart rhythm specialist before his second-opinion evaluation at our institution, as once-a-day atenolol therapy at a whiff of a dose, 12.5 mg, could hardly be construed as a suitable type 1 LQTS–directed treatment program.
A decade has passed since the release of the respective Bethesda 36 and ESC 2005 guidelines regarding sports participation guidelines for athletes with a variety of cardiac conditions, including LQTS. The publication of the new American Heart Association and American College of Cardiology competitive sports participation guidelines are anticipated eagerly in the next 12 months, and we shall see their expert opinion, level of evidence C recommendations. The timetable of an ESC update is unknown (to this editorialist). Hopefully, when the past decade of evidence and experience has been scrutinized, the ESC’s decade-long practice of sports disqualification based solely upon a misspelled nucleotide will be discontinued.
Finally, as to the investigators’ call for a prospective registry to track athletes with LQTS, this prospective registry already exists through our National Heart, Lung, and Blood Institute–funded R01 grant titled “Exercise in Genetic Cardiovascular Conditions,” also known as “Lifestyle and Exercise in the Long QT Syndrome” (HL125918-01, ClinicalTrials.gov identifier pending). On behalf of the other coprincipal investigators, Drs. Rachel Lampert and Sharlene Day, we welcome the participation of your patients with LQTS (also enrolling patients with hypertrophic cardiomyopathy), both competitive athletes and the less active, in order to determine the level of risk and the quality of life conferred by being active. Patients can enroll directly through the study, so there are no geographic constraints to participation. For more information, contact the study at .
↵∗ Editorials published in JACC: Clinical Electrophysiology reflect the views of the authors and do not necessarily represent the views of JACC: Clinical Electrophysiology or the American College of Cardiology.
Dr. Ackerman is a consultant for Boston Scientific, Gilead Sciences, Medtronic, and St. Jude Medical; and has received royalties from Transgenomic.
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