Combination of arrhythmogenic right ventricular dysplasia with left ventricular non-compaction as a special form of cardiomyopathy: clinic, diagnostics, genetic, natural course

Abstract Background A few cases of combination arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVC) with left noncompaction (LVNC) have been described. Aims To study the genetics, diagnostical features and clinical course ARVC LVNC. Materials methods 58 patients diagnosis (26 men; mean age 39.1±14.2 years; follow-up period – 21.5 [6; 60] months) 125 LVNC (74 46.4±15.1 14 [3; 40] months). All underwent electrocardiogram (ECG), echocardiography, 24-h ECG monitoring. Heart MRI was performed in 53 (91.4%) 60 (48%) LVNC, heart CT 18 (31%) 89 (71.2%) For all DNA-diagnostic using both (PKP2, DSG2, DSP, DSC2, JUP, TMEM43, TGFB3, PLN, LMNA, DES, CTTNA3, EMD, SCN5A, LDB3, CRYAB, FLNC) (MYH7, MYBPC3, TAZ, TPM1, MYL2, MYL3, ACTC1, TNNT2, TNI3) gene panels. Results Combination found 9 (15.5% form cohort 7.2% from cohort). These were distinguished isolated or by aggressive arrhythmias (frequent premature beats, sustained tachycardia, significantly worse antiarrhythmic therapy effect, appropriate shocks implanted cardioverter-defibrillators (ICD) ICD). Patients ARVC+LVNC also dilatation RV, low QRS voltage on ECG, presence AV block, absence signs LV hypertrophy ECG. reduction its ejection fraction mixed cardiomyopathy ARVC. Potentially pathogenic variants (IV-V classes pathogenicity) unclear significance (III class desmosomal non-desmosomal genes 78% patients, including 3 (33%) DSP gene. Conclusions The can be caused mutations has typical features: aggressive, resistant rhythm abnormalities leading to ICD a high risk sudden cardiac death. Funding Acknowledgement Type funding sources: Public grant(s) National budget only. Main source(s): Genetic testing supported Grant No. 16-15-10421 Russian Science Foundation