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Key WordsX-linked Emery-Dreifuss muscular dystrophy,implantable cardioverter defibrillator,radiofrequency ablation,heart transplantation Proband is indicated by a blue square. His mother was implanted with a pacemaker in 54 years. The nature of her disease was unknown. Two patient`s children are clinically healthy. A. Detail of direct Sanger sequencing of exon 6 EDM gene. The arrow indicates place of the lost nucleotide C. B. Compare fragments of the nucleotide sequence of exon 6 of the gene patient EDM («Query») with the reference sequence of exon 6 of the gene EDM patient NG_008677.1 («Sbjct"). Red line underlined the place of deletion.The patient has suffered from low progressive skeletal myopathy since childhood. Since 5 years he have has progressive muscular weakness, frequent episodes of falling. In the age of six he was diagnosed muscular dystrophy. He has had arrhythmias and minimal ejection fraction (EF) reduction since the age of 32. Palpitatons and presyncope appeared and increased in 2012. Echocardiography and Holter monitoring showed signs of DCM, sick sinus syndrome, transient AV block II degree type 1, paroxysmal atrial flutter and fibrillation, more than 4000 premature ventricular beats (PVBs) and non-sustained ventricular tachycardia. However he had normal coronary angiograms.He was undergone radiofrequency ablation of cavotricuspid isthmus in Bakoulev Center. The dual-chamber ICD implantation was also performed. Amiodarone showed good clinical effect. Left ventricular (LV) EF was forty-three percent. However, he got worse four months later. The patient had palpitations, progressive dyspnea and edema. Atrial flutter, low LV EF (less than twenty percent) and severe mitral and tricuspid regurgitation were detected at this time. Emery-Dreifuss muscular dystrophy diagnosis have been already genetically confirmed by that time. They found two genetic variants (Fig. 2): 1) frame-shift deletion c.del619C in emerin (EMD) gene www.jafib.com Abstract:We present a 38-years male patient. He has suffered from muscle weakness since 5 years. Arrhythmias appeared at the age of 32. In 37 years he had sick sinus syndrome, transient AV block II degree, paroxysmal atrial fibrillation, atrial flutter, and ventricular arrhythmias. At this time, dilated cardiomyopathy was also detected. The evaluation revealed knees and elbows contractures, increased level of creatine kinase. The genetic testing revealed a frame shift deletion c.del619C in the emerin (EMD) gene and c.IVS4-13T> A in the lamin (LMNA) gene, and c.del619C deletion in the heterozygous state in a patient`s mother. Radiofrequency ablation of cavotricuspid isthmus, implantable cardioverter-defibrillator (ICD) implantation were performed. Heart transplantation was performed nine months later, due to severe heart failure and electrical storm. A morphological evaluation revealed sclerosis, atrophy and hypertrophy of cardiomyocytes. He underwent an induction therapy with (basiliximab) methylprednisolone, tacrolimus, mycophenolate after heart transplantation. Durin...

ФГБУ «ФНЦ трансплантологии и искусственных органов им. акад. В.И. Шумакова» Минздрава РФ (директор-академик РАМН, проф. С.В. Готье), Москва, Российская Федерация 2 Кафедра трансплантологии и искусственных органов (зав.-академик РАМН, проф. С.В. Готье) ГБОУ ВПО «Первый МГМУ им. И.М. Сеченова» (ректор-член-корр. РАМН, проф. П.В. Глыбочко), Москва, Российская Федерация 3 Московский координационный центр органного донорства Департамента здравоохранения г. Москвы (руководитель центрак. м. н. М.Г. Минина), Российская Федерация Цель. Оценка эффективности применения периферической вено-артериальной экстракорпоральной мембранной оксигенации в качестве средства предтрансплантационной механической поддержки кровообращения у пациентов, нуждающихся в неотложной пересадке сердца. Материалы и методы. 17 реципиентам (14 мужчин и 3 женщины) в возрасте 16-66 (40,1 ± 4,2) лет выполнена двухэтапная трансплантация сердца с использованием периферической вено-артериальной экстракорпоральной мембранной оксигенации в качестве метода предтрансплантационной механической поддержки кровообращения. Во всех случаях использовали канюляцию открытым хирургическим способом из бедренного доступа. Для забора венозной крови использовали венозную канюлю (21-25 Fr), для возврата кровиартериальную канюлю (15-19 Fr), для селективной перфузии нижней конечности использовали отдельную артериальную канюлю или однопросветный сосудистый катетер размером 8 или 10 F. Результаты. Продолжительность экстракорпоральной мембранной оксигенации (ЭКМО) перед трансплантацией сердца составила 81 ± 17 ч. Обеспечивали объемную скорость экстракорпорального кровотока 4,8 ± 0,6 л/мин, или 2,63 ± 0,04 л/мин/м 2 , газоток 4,8 ± 0,6 л/мин, FiO 2 0,86 ± 0,07. У 13 пациентов (76,5%) применение ВА ЭКМО было продолжено в послеоперационном периоде в течение 4,3 ± 0,5 суток, на 6,7 ± 0,8 сутки они были переведены из ОРИТ и в последующем выписаны из стационара на 32,3 ± 4,6 сутки после трансплантации сердца. 4 (23,5%) пациента умерли, в том числе 3на фоне послеоперационного применения ВА ЭКМО. Причинами летального исхода в 3 случаях были сепсис и полиорганная недостаточность, в одном случае внезапная остановка сердечной деятельности. Заключение. Периферическая вено-артериальная экстракорпоральная мембранная оксигенация является перспективным методом предтрансплантационной механической поддержки кровообращения у реципиентов с жизнеугрожающей декомпенсацией сердечной деятельности.

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Mandibular arteriovenous malformation (AVM) is a rare lesion, but it often can be presented with life-threatening bleedings. Endovascular treatment of mandibular AVMs has multiple approaches including transarterial embolization, transvenous embolization, direct puncture, and sclerotherapy. In this case study, we present a patient with mandibular AVM complicated by hemorrhage. The patient was treated with transarterial embolization, followed by transvenous sclerotherapy with balloon occlusion of venous outflow. But radical occlusion of AVM was achieved only by transvenous embolization of AVM with Onyx via double lumen balloon, which occluded the venous outflow.

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Rationale. Secondary, or functional, mitral regurgitation is the most common complication of heart failure. Dysfunction of one or more mitral valve structures occurs in 39–74% of patients thus complicating the course of the disease and significantly worsening the prognosis in patients with left ventricle dilatation. An unfavorable prognosis in patients with the development of mitral regurgitation is conditioned by the progressive changes that form a vicious circle: the continuing volume overload and dilatation of the left ventricle cause its remodeling, leading to further dilatation of the mitral valve annulus. Dysfunctions of the papillary muscles lead to the increased tension of the left ventricle wall and increased mitral regurgitation. Clinically, this process is manifested by the congestive heart failure progression and worsened prognosis of the further course, which in the future may lead to considering the inclusion of this patient group on the waiting list for heart transplantation.Purpose. The purpose of this article is to review the role of surgical management in patients with heart failure complicated by mitral regurgitation.Conclusions. The main principles of the treatment for functional mitral regurgitation include the reverse left ventricular remodeling and mitral valve repair or replacement surgery which lead to an improved quality of life, the transition of patients to a lower functional class, reduced hospital admission rates, and also to a regression or slower progression of the heart failure and to an improved survival.