Abstract
Left ventricular non-compaction (LVNC) is a rare primary cardiomyopathy with genetic etiology, resulting from an abnormality of myocardial development during embryogenesis. It carries an elevated risk of left ventricular dysfunction, thromboembolic events and malignant arrhythmias. We report the case of LVNC associated with paroxysmal atrial fibrillation and ankyrin 2 (ANK2) mutation at the genetic test. An 18-year-old competitive athlete visited our medical center to undergo the diagnostic investigations protocol preparatory to the release of the suitability for competitive practice. The echocardiographic examination shows LVNC without ventricular remodeling (left ventricular ejection fraction (LVEF) 53%, global longitudinal strain (GLS) -18.3%). The echocardiographic diagnosis was confirmed by cardiac magnetic resonance imaging (cMRI), which revealed dense hypertrabeculation in the left ventricular apex and lateral wall. The cardiogenetic investigation showed a c.9145C>T variant (p.Arg3049Trp) identified in the ANK2 gene. This mutation is associated in the literature with rare cases of LVNC. The patient underwent an extended Holter monitoring which excluded ventricular arrhythmic events but showed two brief episodes of paroxysmal atrial fibrillation. Despite the absence of significant ventricular remodeling, considering the presence of paroxysmal atrial fibrillation and the presence of a mutation in the ANK2 gene, which has several variants related to high-risk phenotypes, it has been decided to suspend the competitive practice, and is defined an adequate clinical-diagnostic follow-up.