This work reports the story of a 11-year-old boy with recurrent syncopes that occurred during
the latest 4 years of his life, while he was under physical stress. Syncope is a common
pediatric problem which implies the differential diagnosis between a great number of
predisposing causes, including neurologic and cardiac disorders. We summarize the ruling-
out decisions we choose to approach the clinical problem and we try to explain how
the correct diagnosis was reached. We also describe the main features of two genetic
arrhythmias which were thought of being responsible of his clinical condition: Long QT Syndrome
(LQTS) and Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT). Even
though they are quite rare diseases, it is very important to be aware of them as they can
lead to sudden death. When first line screening evaluations are the key to identify in a simple
way people who could have inherited these genetic mutations, molecular diagnosis confirms the presence of these arrhythmias.
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