Every once in a while you read an article that you know is truly a ‘landmark’. An article that presents new, original and impactful data to better the care of patients, and simultaneously serves to validate a practice model applied by many but with limited scientific data.

Johnson and Ackerman1 present their findings on athletes with congenital long QT syndrome (LQTS) and the outcomes of continued sports participation contrary to the 2005 guidelines of the 36th Bethesda Conference and the European Society of Cardiology.2 ,3 (link to article by Johnson) In over 650 athlete-years of follow-up after returning to sport with LQTS, there were no deaths and only one athlete with sport-related cardiac events involving appropriate VF-terminating implantable cardioverter defibrillator (ICD) shocks in a very-high-risk child (QTc>550 ms and history of resuscitated cardiac arrest).

Cardiovascular screening: there is no debate!

Everybody supports screening—AHA, ACC, ESC, IOC, FIFA, AMSSM, AAP, AAFP, NCAA… you name it. Major medical and sport governing organisations universally endorse cardiovascular screening in athletes. No one has suggested that we do not screen athletes for pre-existing heart conditions that place them at risk of sudden cardiac death (SCD). Our challenge has been to develop a screening protocol that can effectively identify those at risk without unintended consequences or disproportionate costs. One objection to the use of ECG screening is the ‘potential harm’ of early detection of disorders where the clinical course and absolute risk of sudden death are unknown and the outcomes and adverse effects of active management are uncertain.4

The paper by Johnson and Ackerman provides new insights into the management of athletes detected with LQTS. The importance of this study, however, translates far beyond their findings and represents a vitally needed model of research in sports cardiology.

What is the purpose of screening?

There is significant focus on whether screening athletes for cardiovascular disorders decreases mortality. Limited outcomes-based studies exist which address the potential for SCD risk reduction through early detection.5 Despite the lack of definitive data, the stated purpose of cardiovascular screening—regardless of the protocol used for screening—is the detection of silent cardiovascular disorders associated with SCD.6–8 In other words, the intention of screening is to detect potentially lethal cardiovascular disease and hope that we can mitigate the risk of sudden death or disease progression through appropriate medical management or intervention.

Some authorities are concerned that disease detection may cause harm to athletes including unnecessary procedures and unjustified athletic restrictions. More research is clearly needed to define the potential harms of early detection, but this remains true for any method of cardiovascular screening in athletes, inclusive of ECG or not.

Counselling, management and risk reduction

There is general agreement that exercise is a trigger for sudden cardiac arrest in persons with pathological cardiac disorders, that exercise can exacerbate disease progression in some disorders and that exercise limitations, medical management or other interventions may reduce risk in asymptomatic athletes. These assumptions apply regardless if the disorder is detected because of family history, physical examination or ECG. Risk stratification followed by appropriate medical management is currently supported for many of the diseases we are looking for, such as catheter ablation of high-risk accessory pathways in Wolff-Parkinson-White, surgery for severe aortic valve or dilated aortic conditions, ICD placement in patients with cardiomyopathy and high-risk features (syncope, non-sustained ventricular tachycardia and family history of SCD), and cascade screening in families with inheritable cardiac conditions.

The study presented by Johnson and Ackerman reinforces efforts to identify those at risk.

Active management intended to reduce risk in athletes with LQTS included β-blockade for LQT1 and LQT2, left cardiac sympathetic denervation in patients with β-blocker intolerance, avoidance of QT prolonging drugs, recommendations for proper hydration and electrolyte replacement, and ICD placement in cases of prior aborted cardiac arrest and other high-risk disease phenotypes. Importantly, as the authors acknowledge, more data are needed in adult athletes with LQTS engaged in high static–high dynamic sports.

Early detection ≠ disqualification

While this study applies only to athletes with LQTS and cannot be extrapolated to other genetic channelopathies or cardiomyopathies, it is the model of return to play considerations that deserves our greatest attention. Extensive patient/family counselling and an exemplary standard of informed decision-making were fundamental to the care provided to these patients.

In the absence of data, prior eligibility guidelines for athletes with cardiac disorders have been appropriately conservative to protect the safety of athletes. Perhaps in 2012, it is time to look towards the collection of scientific data that can more directly guide disease-specific clinical recommendations.

Although data linking early detection to lower mortality in athletes are limited, early detection remains the primary goal of screening. A paradigm that emphasises a comprehensive evaluation, extensive patient/family counselling, prudent medical management for risk reduction and informed decision-making may provide the most sensible strategy to structure these difficult return to play decisions.