Next generation sequencing helps in differential diagnosis of pathological left ventricular hypertrophy in elite athletes

To detect the reason of left ventricular hypertrophy (LVH) may be difficult in some cases especially in elite athletes. Object. To evaluate the efficiency of next generation sequencing (NGS) genetic test in differential diagnostics of pathological LVH in elite athletes. Material and methods. Analysis of echocardiographic data from 791 elite athletes revealed 15 individuals with LVH > 12 mm (1,9%). Based on the criteria of abnormality (asymmetric, severe and changes on electrocardiogram) 5 (0,6%) athletes were selected for genetic test. TruSight Cardio panel (“Illumina”) was used to identify variants of 174 genes with known associations to inherited cardiac conditions. Results. In 3 out of 5 athletes the pathogenic variants in MBPC3 and LMNA genes previously associated with HCM and other CMs were found. One athlete with negative genetic test result had severe untreated arterial hypertension as a possible cause for LVH. The second athlete didn’t have LVH in magnetic resonance imaging. Conclusions. In elite athletes, the asymmetric LVH should be considered as pathological finding which requires comprehensive clinical evaluation and NGS genetic test.