Clinica Pediatrica, 1Unità Operativa di Cardiologia, IRCCS “Burlo Garofolo”, Università di Trieste
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Key words: Recurrent syncope, Genetic arrhythmias, LQTS, CPVT
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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