Short QT Syndrome: A Predictable Story

and we moved from theory to a real clinical case. A 37-year-old lady presented with two consecutive episodes of syncope. She was seen on a Friday afternoon in a hospital 100 km south of Barcelona, Spain. An ECG was recorded and forwarded for a second opinion to our Arrhythmia Unit in the Hospital Clinic of Barcelona. The ECG (fig. 3 of the original paper) showed a QTc interval of 248 ms. During a telephone conference a second ECG was requested to evaluate the possibility that the ECG machine was not performing adequately. Using a different machine, a second ECG confirmed the same results. The patient was asked to move to Barcelona for further study but she refused because she had a 6-month-old baby at home and did not want to spend the weekend in the hospital. An appointment was made for the next Monday. Unfortunately, on the Sunday morning the patient died suddenly at home. We then realized that we had encountered our first-ever patient with short QT syndrome (SQTS) that had caused sudden cardiac death. Despite multiple efforts, it was not until almost 5 years later that we could obtain an ECG of the child, which was completely normal. Some months after the event, the clinical case and the ECG were presented during a discussion about sudden Around the end of the last millennium, and some years after the description of the long QT syndrome [1] , the familial form of catecholaminergic polymorphic ventricular tachycardia [2] and the Brugada syndrome [3] , we continued to be concerned by the occurrence of sudden cardiac death of unknown origin in some patients with a structurally normal heart. Our knowledge of channelopathies had grown exponentially over the previous years and we thought almost everything was known. However, in passionate discussions about the mechanisms of channel dysfunction, the possibility was often considered that some abnormalities in the genes encoding potassium channels might result in a gain of function, and thus accelerate the repolarization process. The resulting disease should be evident on an electrocardiogram (ECG) with a short QT interval. However, until then no one had ever seen such an ECG in patients without electrolytic imbalance, use of a specific drug or extreme heart rate changes. Very interestingly, we had information concerning animals such as rats, mice and especially kangaroos (with an otherwise known high incidence of sudden death) showing a short ECG QT interval ( fig. 1 ) [4] . During the fall of 1999, a lack of success provoked a radical change in our perception of the possible disease Received: January 23, 2014 Accepted: January 23, 2014 Published online: May 6, 2014