A 17-year-old patient with premature ventricular contractions and normal left ventricular function was referred for reablation after an unsuccessful catheter ablation attempt. Holter monitoring demonstrated a high burden of premature ventricular contractions, present throughout the whole recording. The patient reported occasional paralytic attacks; his face had a dysmorphic appearance with a wide distance between the eyes, a caudal insertion of the ears, and a high forehead. These three features resulted in a clinical diagnosis that was confirmed by molecular biology and completely changed the therapeutic strategy.
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http://dx.doi.org/10.1007/s00399-021-00813-z | DOI Listing |
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