[Dilated phase of hypertrophic cardiomyopathy: high-risk reconstructive surgery as an alternative to heart transplantation]. / Dilatatsionnaya faza gipertroficheskoi kardiomiopatii: rekonstruktivnaya khirurgiya bol'shogo riska kak al'ternativa transplantatsii serdtsa.

The authors report the diagnosis and surgical treatment of 5 patients with dilated phase of hypertrophic cardiomyopathy (HCM). Features of these patients are progressive heart failure, double-level blood flow obstruction and the risk of apical aneurysms. Reconstructive remodeling surgery is a reasonable alternative to heart transplantation despite the existing risk.

[The morphological and molecular genetic characteristics of nephroblastomas in immature ovarian teratoma in adult patients]. / Morfologicheskaia i molekuliarno-geneticheskaia kharakteristika nefroblastomy v nezreloi teratome iaichnikov u vzroslykh bol'nykh.

The paper describes 2 cases of immature ovarian teratoma with elements of nephroblastoma (ICD-0 code 9080/3) in patients aged 61 and 70 years. Microscopic examination revealed that both cases had blastemal cells with scant cytoplasm and basophil nuclei sticking together. Epidermal, glandular, rhabdomyoblastic, chondroid, bone, neuroectodermal, and histiocytic components were determined. Papillary and glomeruloid structures and primitive tubules were immured in the sarcomatous stroma. Immunohistochemical studies showed a strong reaction with Wilms tumor 1 (WT1), paired box gene (PAX-2), cytokeratin 7, desmin, smooth muscle actin, and α-1 antitrypsin. The recurrent tumors displayed a 1.8- to 6.1-fold increase in the level of p53. At the same time, the molecular genetic study revealed p53 gene mutation. In both cases, serous ovarian cystadenocarcinoma was misdiagnosed, ineffective chemotherapy was performed, and a recurrence occurred. The literature review revealed only 8 such cases.

[The morphological and molecular genetic characteristics of sarcomatoid chromophobe renal cell carcinoma]. / Morfologicheskaia i molekuliarno-geneticheskaia kharakteristika sarkomatoidnoi khromofobnoi pochechno-kletochnoi kartsinomy.

The paper describes a case of chromophobe renal cell carcinoma growing into the muscular layer of the descending colon and with metastases in 4 lymph nodes of paranephral tissue in a 66-year-old woman. The tumor had a zonal structure with an alternation of epithelioid and sarcomatoid structural sites and with the signs of grades I, II and III according to the grading system by Paner and et al. (2010). The sarcomatoid renal component occupied about 70.0% of the tumor. There was a pronounced immunohistochemical reaction with VEGF-A (5 scores), a high Ki-67 proliferation index (70%), and a large number of tumor cells with nuclear p53 expression (85%) in the areas with minimal differentiation and sarcomatoid elements (Grade III). These signs can serve as criteria for the aggressive behavior of the tumor. A large volume of the sarcomatoid carcinoma component and a strong reaction with VEGF-A are indications for targeted therapy with anti-VEGF drugs.

[Eosinophilic granuloma of the parietal bone of an adult patient with BRAF mutation]. / Éozinofil'naia granulema temennoi kosti s mutatsiei gena BRAF u vzroslogo patsienta.

The paper describes a case of eosinophilic granuloma of the parietal bone in a 32-year-old man. Histological examination revealed a large number of bean-shaped Langerhans cell histiocytes with lobed nuclei and nuclear grooves. The histiocytes alternated with the foci of obvious eosinophilic infiltration and with eosinophilic microabscesses. There were osteoclast-like multinucleated giant cells, bone resorption, and numerous bone rods covered with osteoblast chains. The histiocytes expressed CD1α, langerin, CD68, S100, and p53 (in 90.0% of the tumor cells). The Ki-67 proliferation index was 18.0%. A molecular genetic study identified BRAFV600E mutation (nucleotide substitution s.1799 T>A (p.V600E) in the heterozygous state). Clinical and morphological data and the results of molecular genetic studies led to the conclusion that there was eosinophilic granuloma of the right parietal bone (the unifocal form of Langerhans cell histiocytosis (LCH), type I, group A1, with the monoossal nature of lesion and with BRAFV600E mutation). In adults, this disease is extremely rare (2-5 cases of LCH per million people, bone loss in the fourth decade of life in 2.5% of the patients).

Myocardial Biopsy In "Idiopathic¼ Atrial Fibrillation And Other Arrhythmias: Nosological Diagnosis, Clinical And Morphological Parallels, And Treatment.

BACKGROUND: The nosological nature of "idiopathic" arrhythmias and the effect of etiotropic and pathogenetic treatment are often unknown. METHODS AND RESULTS: 19 patients (42.6±11.3 years, 9 women) with atrial fibrillation (n = 16), supraventricular (n = 10) and ventricular (n = 4) premature beats, supraventricular (n = 2) and ventricular tachycardia (n = 1), left bundle branch block (n= 2), AV block (n = 2) without structural heart changes. Viruses were identified (polymerase chain reaction, PCR) along with measurement of anti-heart antibodies (AHA) and endomyocardial biopsy (EMB). EMB allowed to establish diagnosis in all patients: infectious-immune myocarditis (n = 11, parvovirus-positive in 1),parvovirus-positive endomyocarditis (n = 1),systemic (n = 2) and myocardial (n = 1) vasculitis,Fabry's disease (n = 1), arrhythmogenic right ventricular dysplasia (n = 1),unspecified genetic cardiomyopathy (n = 2, herpes virus 6 one positive). Level of AHA had the greatest significance for myocarditis diagnostics. All patients with myocarditis/vasculitis had background therapy: acyclovir (n = 10), IV immunoglobulin (n = 2), meloxicam (n = 12), hydroxychloroquine (n = 15), steroids (n = 14, 31.1±12.5 mg/day), azathioprine 150 mg/day (n = 2). Median follow-up was 4 years. Treatment significantly reduced the rate of arrhythmias (8 [5;8] to 3 [1.25;7.75] points); disappearance of bundle branch block was noted. CONCLUSION: EMB allowed to diagnose immune-mediated inflammatory diseases in 78.9% patients with 'idiopathic' arrhythmias and genetic diseases in 21.1%. Background therapy of myocarditis improved the antiarrhythmic efficiency, and allowed the best premed for interventional treatment.

[Left ventricular noncompaction: A clinical and morphological study].

The data of clinical, macro- and micrometric, histological, and immunohistochemical studies of the heart were analyzed in patients with left ventricular noncompaction (LVNC). Materials from 7 patients: 5 hearts of recipients after heart transplantation, one heart of a dead patient, and one endomyocardial biopsy specimen were investigated. The investigations showed that this disease was accompanied by a preponderance of a noncompact layer with its ratio to a compact layer (2.4:6.6) in the left ventricle and by myocardial hypertrophy and fibrosis in all cases, by endocardial fibroelastosis and discomplexation of muscle fibers by more than 15% of the specimen area in 6 of the 7 cases, by right ventricular hypertrabeculation and myocarditis in 5 cases, and by lipomatosis and impaired connexin 43 expression in 4 cases. Only one of the four patients was found to have MYH 7 gene mutation. The results of MRI of the extracted heart coincided with morphological findings in 100% of cases. The comparative study demonstrated that this disease had simultaneously morphological features of both LVNC and restrictive, hypertrophic, dilated cardiomyopathy. The findings may suggest that the LVNC phenotype may be formed under the influence of various modifying factors (hemodynamic and inflammatory ones).

[Myocardial Crypt of the Left Ventricle Combined With Barlows syndrome].

Myocardial crypts were initially described in patients with hypertrophic cardiomyopathy. Modern diagnostic data show that this structural abnormality can be found in patients with other diseases, or might represent the variant of normal heart development in healthy individuals. The prognostic significance of this finding is uncertain. In this publication we present a clinical case of the combination of myocardial crypt and Barlows syndrome.

[Brugada Syndrome: Possibilities of the Use of Noninvasive Electrocardiographic Mapping. A Case Report].

Patient P., 50 years old, male, with type I Brugada syndrome was examined. The patient had aborted sudden death event (2006) in his clinical history, ICD Gem III VR was implanted in 2006, ICDLumax DR was reimplanted in 2012. The patient had coved type pattern in right precordial ECG-leads. The p.E553X mutation in SCN5A gene, whish encodes the sodium channel α-subunit, was found. Noninvasive electrocardiographic mapping was performed. Significant changes of local unipolar electrograms including QRS fragmentation, ST segment elevation and late ventricular potentials were identified in the epicardium of the right ventricle outflow tract. Thus, the presented case demonstrates that noninvasive electrocardiographic mapping methodology allows to determine and visualize arrhythmogenic substrate in patients with inherited channelopathies.

[Brugada Syndrome: Possibilities of the Use of Noninvasive Electrocardiographic Mapping].

Patient P., 50 years old, male, with type I Brugada syndrome was examined. The patient had aborted sudden death event (2006) in his clinical history, ICD Gem III VR was implanted in 2006, ICDLumax DR was reimplanted in 2012. The patient had coved type pattern in right precordial ECG-leads. The p.E553X mutation in SCN5A gene, whish encodes the sodium channel -subunit, was found. Noninvasive electrocardiographic mapping was performed. Significant changes of local unipolar electrograms including QRS fragmentation, ST segment elevation and late ventricular potentials were identified in the epicardium of the right ventricle outflow tract. Thus, the presented case demonstrates that noninvasive electrocardiographic mapping methodology allows to determine and visualize arrhythmogenic substrate.

Laminopathies in Russian families.

Mutations in LMNA gene produce a wide spectrum of disorders called laminopathies. In this article, the first cases of laminopathies from Russia are reported. In 10 unrelated families, 9 different mutations were identified: Asp47His, Gly232Arg, c.[781_783delAAG, 781insGTGGAGCAGTATAAGAAA], Arg249Gln (in two families), Arg377His, Arg541His, Ala350Pro, Leu52Pro, and Gly635Asp. Mutations Arg249Gln, Arg377His, and Arg541His were reported previously, others are novel. Four cases present de novo mutations, among them two cases with Arg249Gln are found. Because this mutation occurred de novo also in other reported cases, a mutational 'hot spot' was supposed. Three phenotypes were observed: autosomal dominant (AD) Emery-Dreifuss muscular dystrophy (EDMD), limb-girdle MD type 1B, and AD dilated cardiomyopathy with conduction defect type 1A (DCM1A). Atypical clinical presentations were a very severe EDMD and an infantile DCM1A.