Excerpt from "Demystifying the Congenital Long QT Diagnosis" by Dr. Jennifer White

"A nine-year-old healthy girl at summer camp, running up a hill to chase her friend, collapses and fractures her left arm. She is seen in the local emergency department where she is diagnosed with a supracondylar fracture and dehydration. Three months later her brother is found dead in his bed in the morning.

A 26-year-old woman is asleep on the couch one week after the uneventful delivery of her first baby. The pizza delivery man rings the doorbell and when her husband arrives in the living room with the food he finds her gurgling and unresponsive. He initiates CPR and medics are able to restore sinus rhythm with defibrillation. She is diagnosed with seizure disorder at the local emergency department and started on Keppra. Two weeks later she has another episode shortly after her husband’s alarm wakes her from a sound sleep but this time she cannot be revived. Post mortem genetics reveal c-LQTS type 2 and her baby is also gene positive.

A 10-year-old boy is at swim team practice, a thunderstorm begins and a whistle blows to get the kids out of the pool. He jumps out quickly to a crash of thunder and has a witnessed face first syncopal episode that lasts seconds. He arrives in the ED cold and wet with a fractured nasal bone and lip laceration. He is told to eat more carbohydrates prior to practice. About six months later his father has cardiac arrest during a triathlon.

A 34-year-old lawyer is preparing for her third marathon by exercising daily at the gym. After a 45-minute workout she has a syncopal episode and falls off the treadmill, sustaining a forehead laceration but is otherwise uninjured. At the local ED, she is given the V.I.P. treatment since her law firm is a major malpractice litigator. The vitals are all normal except for a pulse of 42, just what is expected for this highly conditioned athlete. The plastic surgeon provides three sutures, the neurologist diagnoses “convulsive syncope,” is discharged. She returns 72 hours later in cardiac arrest but cannot be
revived.

What do all of these cases have in common? Each of these patients was eventually or retrospectively diagnosed with congenital long QT syndrome (c-LQTS). This should be distinguished from other causes of a prolonged QT interval, including electrolyte abnormalities or medications. The two may not be that distinct, however. Most authorities agree that those with torsades from acquired causes actually do have a concurrent underlying (but undiagnosed) congenital long QT syndrome as well. This article will focus on the congenital long QT syndrome, presentation, diagnosis and management of this sneaky, often obscured diagnosis that is more common than we think."

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