Atient has suffered from low progressive skeletal myopathy considering that childhood. Given that five years he have has progressive muscular weakness, frequent episodes of falling. Within the age of six he was diagnosed muscular dystrophy. He has had arrhythmias and minimal ejection fraction (EF) reduction because the age of 32. Palpitatons and presyncope appeared and increased in 2012. Echocardiography and Holter monitoring showed indicators of DCM, sick sinus syndrome, transient AV block II degree type 1, paroxysmal atrial flutter and fibrillation, a lot more than 4000 premature ventricular beats (PVBs) and non-sustained ventricular tachycardia. Having said that he had standard coronary angiograms. He was undergone radiofrequency ablation of cavotricuspid isthmus in Bakoulev Center. The dual-chamber ICD implantation was also performed. Amiodarone showed fantastic clinical effect. Left ventricular (LV) EF was forty-three %. Even so, he got worse 4 months later. The patient had palpitations, progressive dyspnea and edema. Atrial flutter, low LV EF (significantly less than twenty percent) and extreme mitral and tricuspid regurgitation have been detected at this time. Emery-Dreifuss muscular dystrophy diagnosis have been currently genetically confirmed by that time.BRD4 Protein web They found two genetic variants (Fig. 2): 1) frame-shift deletion c.del619C in emerin (EMD) geneDec 2016 – Jan 2017| Volume 9| IssueJournal of Atrial FibrillationCase Report Featured Reviewreaction located no viral genome in blood. The degree of anti-heart antibodies moderately enhanced (1:160 toward endothelial antigens and antigens of conductive system). By the way, it could be secondary immune reaction of cardiomyocytes’ harm. ECG showed (Fig 3A) atypical atrial flutter with FF waves period 0.20 s., heart rate was 90/min, proper bundle branch block (QRS duration 0.16 s.), both ventricles hypertrophy indicators. Holter monitoring revealed sustained atrial flutter with moderate tachycardia, atrial flutter (2:1, 3:1, 4:1), ICD VVI pacing (20 of QRS) 75 beatspatient`s mother (pacemaker was implanted in 54 y.)Figure 1: The pedigree of patient.Proband is indicated by a blue square. His mother was implanted pacemaker in 54 years. The nature of her disease was unknown. Two patient`s young children are clinically wholesome.causing premature stop-codon look and protein shortening (p.236X); 2) intron replacement c.IVS4-13TA in lamin (LMNA) gene with unknown clinical significance. Each variants had been not discovered in manage group of one hundred healthier volunteers. The patient was in our clinic in February 2013. He had tachycardia 120 beats per minute, irregular pulse, deficits 10-15 beats per minute and serious congestive heart failure symptoms with indicators of hepatomegaly and cholestasis.Semaphorin-7A/SEMA7A Protein custom synthesis The level of creatine kinase remained higher (458 U/l).PMID:24957087 His thyroid status showed euthyroid hyperthyroxinemia. We had to exclude myocarditis as a result of heart failure dramatic progression in previously stable patient. Real-time polymerase chainFigure 3:Electrocardiogram.Speed 25 mm/s (A, B), and 50 mm/s (C). A – ECG in February 2013, B – ECG soon after electrical cardioversion. C – ECG just after repeated ICD shocks.Figure 2: Results of DNA diagnostics.A. Detail of direct Sanger sequencing of exon six EDM gene. The arrow indicates location in the lost nucleotide C. B. Examine fragments on the nucleotide sequence of exon six on the gene patient EDM ( uery with all the reference sequence of exon six of the gene EDM patient NG_008677.1 ( bjct”). Red line underlined the place of deletion.per minute, average heart.