It is Friday, my regularly scheduled outpatient clinic day. As what sometimes happens, the last patient of the day and her mother are crying. This is how it unfolded. I look down and see written on the referral sheet: 16-year-old girl with QT prolongation and syncope. Sounds simple — diagnose her with long QT syndrome, take away her alarm clock, swimsuit and running shoes, start a beta blocker, print out a sheet on QT-prolonging medications, and send her on her way. Well, it is never that simple. In fact, it is always complicated. This girl’s corrected QT interval is 469, she has normal appearing T-waves, and now it gets dicey. As she tells the story, it becomes less clear whether she actually fainted. Syncope has been replaced by extreme dizziness that brought her to her knees, but she swears consciousness never left her. There is no family history of sudden cardiac death, but her 19-year-old sister had a single seizure at 8 years of age while waking up to her alarm. As I begin to discuss the possibility of long QT syndrome and the inherent implications, the tears begin to flow. She is a year-round soccer player and senses her sports participation may be in jeopardy.

The patient later returns for an exercise test. Now the QTc is 440 at baseline, and lengthens and then shortens post-exertion followed by sinus bradycardia, hypotension and extreme dizziness. Both parents have perfectly normal EKGs. So what do you have? Well, tons of borderline data. I tap into the deep well of modern medicine, order a genetic test and hope for the best. The test, of course, comes back with a class II mutation on LQT1. These type of mutations have not been proven to be disease causing.

So where do we go from here? All she wants to know is “Can I play soccer?” I pull out my Bethesda conference paper on eligibility recommendations for competitive athletes with cardiovascular abnormalities and read the following:

1. Regardless of QTc or underlying genotype, all competitive sports, except those in class IA category, should be restricted in a patient who has previously experienced either: 1) an out-of-hospital cardiac arrest, or 2) a suspected LQTS-precipitated syncopal episode.

2. Asymptomatic patients with baseline QT prolongation (QTc of 470 ms or more in males, 480 ms or more in females) should be restricted to class IA sports. The restriction limiting participation to class IA activities may be liberalized for the asymptomatic patient with genetically proven type 3 LQTS (LQT3).

3. Patients with genotype-positive/phenotype-negative LQTS (i.e., identification of a LQTS-associated mutation in an asymptomatic individual with a nondiagnostic QTc) may be allowed to participate in competitive sports. Although the risk of sudden cardiac death is not zero in such individuals, there is no compelling data available to justify precluding these individuals (who are being identified with increasing frequency) from competitive activities. Because of the strong association between swimming and LQT1, persons with genotype-positive/phenotype-negative LQT1 should refrain from competitive swimming.

So where does she fit? Door #1, #2 or #3? Now this is a diagnostic dilemma. If I say she “fainted” and open door #1, she is done with sports. She does not meet criteria for door #2. That leaves door #3, yet she is not quite phenotypically negative or genotype positive. So what is left? There is always a fourth door that developed from a conversation and a relationship. On the third visit, once all the data is in, we talk…yes, really talk. Certainly the guidelines provide the framework, but a plan must be made for this girl sitting my office; teary eyed and hopeful that her life as she knows it is not over. After discussing all the options, we decide that her symptoms are most likely due to low blood pressure and not ventricular arrhythmia. However, the sister’s history and QTc of 470 suggests the class II mutation may be the real deal. Therefore, a hybrid plan was developed in which she will take a long-acting beta blocker, hydrate vigorously before exercise, and continue to play soccer. As a pediatric electrophysiologist, I often am summoned to seek out the fourth door since guidelines rarely address all clinical scenarios. This inevitably incurs some risk, but when it is based on conversation and relationship, then the risk is shared.

Frank Cecchin, MD is located at the Children's Hospital Boston, Department of Cardiology, in Boston, Massachusetts.