Mutations in DES, encoding desmin protein, are associated with different kinds of skeletal and/or cardiac myopathies. However, it is unknown, whether DES mutations are associated with left ventricular hypertrabeculation (LVHT). Here, we performed a clinical examination and subsequent genetic analysis in a family, with two individuals presenting LVHT with conduction disease and skeletal myopathy. The genetic analysis revealed a novel small in‐frame deletion within the DES gene, p.Q113_L115del, affecting the α‐helical rod domain. Immunohistochemistry analysis of explanted myocardial tissue from the index patient revealed an abnormal cytoplasmic accumulation of desmin and a degraded sarcomeric structure. Cell transfection experiments with wild‐type and mutant desmin verified the cytoplasmic aggregation and accumulation of mutant desmin. Cotransfection experiments were performed to model the heterozygous state of the patients and revealed a dominant negative effect of the mutant desmin on filament assembly. DES:p.Q113_L115del is classified as a pathogenic mutation associated with dilated cardiomyopathy with prominent LVHT.

TGF‐β1 is a cytokine with profibrogenic and immunosuppressive activities, which suggest the clinical significance of TGF‐β1 for the assessment of graft function after LT. We analyzed the dynamics of TGF‐β1 levels in the blood after LDLT in 135 pediatric liver recipients and examined the relationship between the cytokine levels and the laboratory and clinical variables. We found that TGF‐β1 levels in the blood of patients with ESLD were lower than that in healthy children of the same age, P = .001. Moreover, blood levels of TGF‐β1 were associated with liver disease etiology (r = .23) and hepatic fibrosis severity (r = .33). Before LDLT, TGF‐β1 levels were significantly higher in children with good outcomes than in recipients who developed graft dysfunction early in the post‐transplant period, P = .047. One month after LDLT, TGF‐β1 levels in blood plasma increased in pediatric recipients, P = .002. Cytokine levels were significantly correlated with gender (r = .21) and HLA (r = −.24) mismatches, as well as with TAC dosage (r = −.32) later in the post‐transplant period. One year after LDLT, TGF‐β1 plasma levels were higher (P = .01) than those before LDLT and did not correlate with most of the investigated biochemical and clinical variables. Conclusion: Blood levels of TGF‐β1 are associated with hepatic fibrosis severity, graft dysfunction development, and TAC dosage and can be regarded as a potential prognostic biomarker for the assessment of graft function and the optimization of immunosuppressant dosage in pediatric recipients after LDLT.

1 ФГБУ «Федеральный научный центр трансплантологии и искусственных органов имени академика В.И. Шумакова» Минздрава России, Москва, Российская Федерация 2 Кафедра трансплантологии и искусственных органов ГБОУ ВПО «Первый Московский государственный медицинский университет имени И.М. Сеченова» Минздрава России, Москва, Российская Федерация В статье представлен обзор литературы по различным аспектам некомпактной кардиомиопатии. Не-компактная кардиомиопатия -относительно редкое врожденное заболевание сердца, характеризующе-еся чрезмерным развитием трабекулярной сети и глубокими межтрабекулярными впадинами миокарда желудочков. Наиболее часто встречается неуплотненный миокард левого желудочка (НМЛЖ). НМЛЖ может быть изолированным или сосуществовать с другими кардиальными и системными аномалиями. Неуплотнение диагностируют, используя эхокардиографию или магнитно-резонансную томографию. Клинические проявления варьируют в широких пределах -от бессимптомных пациентов до пациентов с желудочковыми аритмиями, застойной сердечной недостаточностью и тромбоэмболиями. Некомпакт-ный миокард является нерешенной клинической задачей в силу недостаточной точности неинвазивной диагностики и стратификации пациентов, определения прогноза и в ряде случаев -тактики их лечения. In this article, the review of the literature on various aspects of the noncompaction cardiomyopathy is presented. Non-compaction cardiomyopathy is a relatively rare congenital heart disease characterized by an excessive prominence of trabecular meshwork, and deep recesses of the ventricular myocardium. The most frequent is left ventricular noncompaction (LVNC). LVNC can occur in isolation or coexist with other cardiac and systemic anomalies. Noncompaction can be detected with an echocardiography or cardiac magnetic resonance imaging. The clinical presentation varies ranging from asymptomatic patients to patients who develop ventricular arrhythmias, heart failure, thromboembolism.

Introduction. Increase in the number of older patients with terminal CHF results in increase in their proportion among potential recipients requiring mechanical circulatory support and/or heart transplantation (HT) [Abecassis M., Bridges N.D. et al., 2012].Aim.To analyze our own experience of HT in recipients of older 60 years.Materials and methods. The study included 63 patients (56 men (93.3% ) and 4 (6.7%) women) aged 60–74 years (63.0 ± 0.8) with body weight of 76.6 ± 1.4 kg, body surface area of 1.7 ± 0.02 m2, and body mass index of 23.4 ± 0.6. Indications for heart transplantation: dilated cardiomyopathy – 24 (38.1%), coronary heart disease – 34 (54.0%), hypertrophic cardiomyopathy – 2 (3.2%), irreversible cardiac graft dysfunction – 3 (4.7%). 46 (73.0%) patients had NYHA functional Class III and 17 (23.0%) patients – Class IV. Transpulmonary pressure gradient was 11.2 ± 2.7 mmHg, pulmonary vascular resistance – 3.5 ± 1.3 Wood units. According to UNOS algorithm 10 (15.9%) patients were listed as Status 1A of urgency of orthotopic cardiac transplantation (VA ECMO, n = 8, and implantable left ventricular assist device, n = 2), 21 (33.3%) patients as Status 1B, and 32 (50.8%) patients as Status 2. Recipients had the following comorbidities: arterial hypertension (n = 51; 81.0%), diabetes mellitus (n = 6; 9.5%), cerebrovascular disease (n = 13; 20.6%), history of stroke (n = 9; 14.3%), dialysisindependent renal dysfunction (n = 21; 33.3%). Before cardiac transplantation 9 (14.2%) recipients underwent various thoracic surgeries, 2 (3.2%) recipients – brain surgery. Heart donors (49 (77.8%) men and 14 (22.2%) women) were aged 18–59 (34.3 ± 10.4) years.Results. ICU hospitalization lasted for 4–15 (8.2 ± 0.5) days. In 61.9% of cases (n = 39) early postoperative and hospital periods were uncomplicated. Early on-table postoperative activation («early» tracheal extubation) was performed in 32 (50.8%) patients in 48 ± 6 minutes after surgery completion. 2 (3.2%) recipients demonstrated early graft dysfunction and required VA ECMO. Complications other than graft dysfunction were in 24 (38.1%) recipients: renal dysfunction (n = 8; 12.7%), renal and hepatic dysfunction (n = 4; 6.3%), infections (bacterial pneumonia, n = 3, [4.8%]), dyscirculatory encephalopathy (n = 9; 14.3%). 12 (19.0%) patients required continuous renal replacement therapy, 10 of them (15.9%) demonstrated renal function recovery. In 2 (3.2%) cases long-term hemodialysis was used. Hospital lethality (n = 6; 9.5%) was due to multiple organ failure syndrome and sepsis.Conclusion.Our own experience demonstrates satisfactory short-term and long-term survival after heart transplantation in recipients of 60 years and older.

On the Back Cover: The back‐cover image is based on the Brief Report Noncompaction cardiomyopathy is caused by a novel in‐frame desmin (DES) deletion mutation within the 1A coiled‐coil rod segment leading to a severe filament assembly defect by Andrey V. Marakhonov et al., DOI: https://doi.org/10.1002/humu.23747.