scholarly journals Cardiac Tumor in Newborn as the Marker of Tuberous Sclerosis: Clinical Case

2020 ◽  
Vol 17 (2) ◽  
pp. 148-151
Author(s):  
Elena I. Naumenko ◽  
Valeria G. Anufrieva ◽  
Irina A. Grishutkina
Keyword(s):  
Left Ventricle ◽  
Tuberous Sclerosis ◽  
Cardiac Tumor ◽  
Clinical Case ◽  
Molecular Genetic ◽  
The Body ◽  
Cardiac Conduction ◽  
Cardiac Rhabdomyoma ◽  
Ventricular Extrasystoles ◽  
Mass Lesions

Background. The most common cardiac tumor in children is rhabdomyoma. Its frequency is 58.3% in the early neonatal period. Rhabdomyoma is associate with tuberous sclerosis pretty often (50-86% of all cases) and it be its diagnostic marker.Clinical case description. This article presents case study of the newborn from the mother with burdened obstetric and gynecological anamnesis, type 1 diabetes, nicotine addiction. Multiple mass lesions were revealed in the child’s heart on the 31 st week of gestation. On examination: systolic murmur over the heart region, fibrous nodules on the skin all over the body up to 1-5 mm in diameter, indurated on palpation. Diagnosed echocardiographically: multiple attached, round masses were revealed in the cavity of left ventricle of 7.9×4.1 mm in size, in outflow track of left ventricle (near the aortic root) — 9.3×4.8 mm, in the cavity of right ventricle — 4.3×3.2 mm, in the cavity of right auricle — 5.1×5.0 mm. Pathologic activity of cardiac conduction system was presented only by single supra-ventricular and ventricular extrasystoles due to the results of 24-hour monitoring.Conclusion. Children with cardiac rhabdomyoma diagnosed in prenatal period are threatened by tuberous sclerosis, thus, complex dynamic observation and molecular genetic testing is needed.

scholarly journals Tuberous sclerosis with cardiac rhabdomyoma: a case report

2017 ◽  
Vol 4 (2) ◽  
pp. 666
Author(s):  
Sunita Arora ◽  
Harnoorjit Kaur Brar ◽  
Prabhjot Kaur Dhillon
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
Female Child ◽  
The Body ◽  
Cardiac Rhabdomyoma ◽  
Cardiac Evaluation ◽  
Benign Tumours ◽  
High Index Of Suspicion

Tuberous sclerosis or tuberous sclerosis complex (TSC) is a genetic disorder, caused by mutations on either of two genes TSC1 and TSC2. Clinical manifestations are caused by growth of benign tumours in different parts of the body. Ten months old female child with four major criteria of tuberous sclerosis complex and asymptomatic cardiac rhabdomyoma is presented. A case of TSC warrants cardiac evaluation for the presence of cardiac rhabdomyoma and if a cardiac rhabdomyoma is detected on antenatal ultrasound or postnatal echocardiography, one should have high index of suspicion for the diagnosis of TSC. Continued research on this disease has unfolded many realities regarding its etiology as well as treatment.

scholarly journals A Case of Fetal Cardiac Rhabdomyoma

2013 ◽  
Vol 4 (2) ◽  
pp. 66-69 ◽  
Author(s):  
Chitra Ganesh ◽  
Anjana Sridhar
Keyword(s):  
Tuberous Sclerosis ◽  
Cardiac Tumor ◽  
Strong Association ◽  
Prenatal Ultrasound ◽  
Cardiac Complications ◽  
Cardiac Rhabdomyoma

ABSTRACT Rhabdomyoma is one of the commonest cardiac tumor detected in prenatal ultrasound. Though its benign and self-limiting, it has a strong association with tuberous sclerosis, and hence needs thorough evaluation not only of the fetus but of the parents for signs of tuberous sclerosis. When isolated, fetus with rhabdomyoma needs to be only followed up for any cardiac complications associated with the mass and delivered. How to cite this article Ganesh C, Sridhar A. A Case of Fetal Cardiac Rhabdomyoma. Int J Infertility Fetal Med 2013;4(2):66-69.

scholarly journals Imaging of tuberous sclerosis complex: a pictorial review

2017 ◽  
Vol 50 (1) ◽  
pp. 48-54 ◽  
Author(s):  
Felipe Mussi von Ranke ◽  
Igor Murad Faria ◽  
Gláucia Zanetti ◽  
Bruno Hochhegger ◽  
Arthur Soares Souza Jr. ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Phenotypic Variability ◽  
The Body ◽  
Malignant Neoplasms ◽  
Renal Angiomyolipoma ◽  
Presumptive Diagnosis ◽  
Cardiac Rhabdomyoma ◽  
Pictorial Review ◽  
Wide Range

Abstract Tuberous sclerosis complex (TSC) is a genetically determined hamartomatous neurocutaneous disease with high phenotypic variability. TSC is characterized by widespread hamartomas and benign, or rarely malignant, neoplasms distributed in several organs throughout the body, especially in the brain, skin, retina, kidney, heart, and lung. Common manifestations include cortical tubers, subependymal nodules, white matter abnormalities, retinal abnormalities, cardiac rhabdomyoma, lymphangioleiomyomatosis, renal angiomyolipoma, and skin lesions. The wide range of organs affected by the disease implies that TSC1 and TSC2 genes play important roles in the regulation of cell proliferation and differentiation. Although recent advances in treatment have improved morbidity, the prognosis remains quite poor and nearly 40% of patients die by the age of 35 years. Imaging is important in the evaluation of TSC because of its role not only in presumptive diagnosis, but also in defining the full extent of involvement. This information allows a better understanding of the behavioural phenotype, as related to lesion location. Imaging also contributes to treatment planning. This pictorial review describes common and uncommon imaging manifestations of TSC.

A RARE CLINICAL CASE OF WILSON’S DISEASE MANIFESTATION IN EARLY CHILDHOOD

2020 ◽  
pp. 49-54
Author(s):  
Oksana Ivanivna Kauk ◽  
Yevheniia Tarasivna Solovieva ◽  
Iryna Oleksandrivna Lapshina ◽  
Yuliia Kostiantynivna Remіnyak
Keyword(s):  
Early Childhood ◽  
Autosomal Recessive ◽  
Clinical Case ◽  
Wilson’S Disease ◽  
Molecular Genetic ◽  
Copper Metabolism ◽  
Wilson's Disease ◽  
The Body ◽  
Inherited Disease ◽  
Disease Manifestation

Wilson's disease is a rare autosomal recessive inherited disease, the pathogenesis of which is associated with impaired copper metabolism in the body, that leads to its excessive accumulation in various organs and tissues, mainly in the liver and central nervous system. Typically the Wilson's disease manifests mainly at a young age. The history of studying this pathology has been described, wherein the important milestones were mentioned as the determination of the role of impaired copper metabolism in pathogenesis of the disease, the establishment of an autosomal recessive inheritance of Wilson's disease. A mandatory clinical manifestation of Wilson's disease is the formation of neurological symptoms as an akinetic−rigid syndrome, hyperkinesis, ataxia, tremor, muscle dystonia, which is associated with a predominant lesion of basal ganglia, the dentate of the cerebellum and substantia nigra. However, the Wilson's disease can be finally diagnosed only on the basis of a combination of clinical data, the results of an ophthalmic (presence of the Kayser − Fleischer ring) laboratory test and molecular genetic analysis. Treatment for Wilson's disease includes a diet that restricts the intake of foods high in copper, and prolonged use of D−penicillamine (cuprenyl). Zinc preparations and antioxidants are also used. Here we present a clinical case from our own practice of atypically early manifestation of Wilson's disease in a child of the first year of life. Key words: Wilson’s disease, impaired copper metabolism, early childhood, extrapyramidal disorders, molecular genetic testing.

Symptomatic and lethal congenital primary cardiac rhabdomyoma

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Mercedes Olaya-C ◽  
Jorge Andres Franco ◽  
Oscar Alberto Messa
Keyword(s):  
Left Ventricle ◽  
Cardiac Tumor ◽  
Histological Study ◽  
Hydrops Fetalis ◽  
Post Mortem ◽  
Fetal Hydrops ◽  
Cardiac Rhabdomyoma ◽  
Case Presentation ◽  
Congenital Tumor ◽  
Primary Origin

AbstractBackgroundCongenital tumors, including mesenchymal rhabdomyoma, are highly infrequent. The combination of a congenital tumor and rhabdomyoma is rarer yet, even more so when primary origin is in the heart.Case presentationWe present a case of fetal hydrops fetalis, wherein the post-mortem exam revealed a cardiac tumor more than twice the size of the heart itself; histological study confirmed primary rhabdomyoma involving the left ventricle.ConclusionIt is essential to keep in mind that fetal tumors should always be differentiated from malformations; in fetuses tissue immaturity must be taken into account for categorization; despite benign labeling, they can be lethal.

Myotonic dystrophy Rossolimo-Churchman-Steinert-Batten (clinical case)

2020 ◽  
pp. 71-72
Author(s):  
И.А. Синельникова ◽  
И.В. Сопрунова ◽  
О.П. Николаева
Keyword(s):  
Case Report ◽  
Myotonic Dystrophy ◽  
Clinical Case ◽  
Molecular Genetic ◽  
Ctg Repeats ◽  
Molecular Genetic Method ◽  
Genetic Method ◽  
Family Case ◽  
Dmpk Gene

В статье представлено описание семейного случая миотонической дистрофии Россолимо-Штейнерта-Куршмана-Баттена. Диагноз подтвержден в результате ДНК-диагностики: выявлено увеличенное число копий CTG-повтора гена DMPK, ответственного за развитие миотонической дистрофии. A family case report of Rossolimo-Steinert-Curschmann myotonic dystrophy is presented. An increased number of copies of CTG-repeats of the DMPK gene responsible for the development of MD, i.e., the diagnosis was confirmed by molecular genetic method.

scholarly journals High-throughput screening of circRNAs reveals novel mechanisms of tuberous sclerosis complex-related renal angiomyolipoma

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Yang Zhao ◽  
Hao Guo ◽  
Wenda Wang ◽  
Guoyang Zheng ◽  
Zhan Wang ◽  
...  
Keyword(s):  
Lipid Metabolism ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Regulatory Network ◽  
High Throughput Screening ◽  
Kidney Tissue ◽  
Cell Types ◽  
The Body ◽  
Differentially Expressed ◽  
Renal Angiomyolipoma

Abstract Objective Tuberous sclerosis complex (TSC) is a rare autosomal dominant disease characterized by lesions throughout the body. Our previous study showed the abnormal up-regulation of miRNAs plays an important part in the pathogenesis of TSC-related renal angiomyolipoma (TSC-RAML). circRNAs were known as important regulators of miRNA, but little is known about the circRNAs in TSC-RAMLs. Methods Microarray chips and RNA sequencing were used to identify the circRNAs and mRNAs that were differently expressed between the TSC-RAML and normal kidney tissue. A competitive endogenous RNA (ceRNA) regulatory network was constructed to reveal the regulation of miRNAs and mRNAs by the circRNAs. The biological functions of circRNA and mRNA were analyzed by pathway analysis. Microenvironmental cell types were estimated with the MCP-counter package. Results We identified 491 differentially expressed circRNAs (DECs) and 212 differentially expressed genes (DEGs), and 6 DECs were further confirmed by q-PCR. A ceRNA regulatory network which included 6 DECs, 5 miRNAs, and 63 mRNAs was established. Lipid biosynthetic process was significantly up-regulated in TSC-RAML, and the humoral immune response and the leukocyte chemotaxis pathway were found to be down-regulated. Fibroblasts are enriched in TSC-RAML, and the up-regulation of circRNA_000799 and circRNA_025332 may be significantly correlated to the infiltration of the fibroblasts. Conclusion circRNAs may regulate the lipid metabolism of TSC-RAML by regulation of the miRNAs. Fibroblasts are enriched in TSC-RAMLs, and the population of fibroblast may be related to the alteration of circRNAs of TSC-RAML. Lipid metabolism in fibroblasts is a potential treatment target for TSC-RAML.

Clinical, cellular, and molecular characterisation of cardiac rhabdomyoma in tuberous sclerosis

2021 ◽  
pp. 1-9
Author(s):  
Hamood N. Al Kindi ◽  
Ayman M. Ibrahim ◽  
Mohamed Roshdy ◽  
Besra S. Abdelghany ◽  
Dina Yehia ◽  
...  
Keyword(s):  
Tuberous Sclerosis ◽  
Clinical Features ◽  
Tuberous Sclerosis Complex ◽  
Potential Role ◽  
Severe Disease ◽  
Cardiac Rhabdomyoma ◽  
Urgent Surgery ◽  
Pathogenic Mutations ◽  
Personalised Treatment

Abstract Background: Rhabdomyoma is the most common cardiac tumour in children. It is usually associated with tuberous sclerosis complex caused by mutations in TSC-1 or TSC-2 genes. This tumour typically regresses by unknown mechanisms; however, it may cause inflow or outflow obstruction that necessitates urgent surgery. Here we investigate the clinical features and the genetic analysis of patients with tuberous sclerosis complex presenting with large rhabdomyoma tumours. We also investigate the potential role of autophagy and apoptosis in the pathogenesis of this tumour. Methods: All the patients with cardiac rhabdomyoma referred to Aswan Heart Centre from 2010 to 2018 were included in this study. Sanger sequencing was performed for coding exons and the flanking intronic regions of TSC1 and TSC2 genes. Histopathological evaluation, immunohistochemistry, and western blotting were performed with P62, LC3b, caspase3, and caspase7, to evaluate autophagic and apoptotic signaling. Results: Five patients were included and had the clinical features of tuberous sclerosis complex. Three patients, who were having obstructive tumours, were found to have pathogenic mutations in TSC-2. The expression of two autophagic markers, P62 and LC3b, and two apoptotic markers, caspase3 and caspase7, were increased in the tumour cells compared to normal surrounding myocardial tissue. Conclusion: All the patients with rhabdomyoma were diagnosed to have tuberous sclerosis complex. The patients who had pathogenic mutations in the TSC-2 gene had a severe disease form necessitating urgent intervention. We also demonstrate the potential role of autophagy and apoptosis as a possible mechanism for tumourigenesis and regression. Future studies will help in designing personalised treatment for cardiac rhabdomyoma.

Evaluation Yorkshire and Landrace breeds of pigs according to PRKAG3, MC4R and MYOD1 marker genes

2021 ◽  
pp. 28-35
Author(s):  
A. Balnikov ◽  
I. Gridyushko ◽  
Yu. Kazutova ◽  
M. Mikhailova ◽  
E. Romanishko
Keyword(s):  
Molecular Genetic ◽  
Live Weight ◽  
Integrated System ◽  
The Body ◽  
Breeding Value ◽  
Feed Consumption ◽  
State Enterprise ◽  
Marker Genes ◽  
Productive Traits ◽  
Meat Productivity

Purpose: evaluation of pigs Yorkshire rocks and Landraz on PRKAG3, MC4R and MyOD1 markers.Materials and methods. The paper presents the analysis of the results of genetic testing, and determines the frequency of alleles and genotypes of Yorkshire and Landrace breeds at the State Enterprise ZhodinoAgroPlemElita" of the Minsk region of the Republic of Belarus by the genes-markers of productive traits: PRKAG3, MC4R and MYOD1. Zootechnical and molecular genetic methods were used in the research (PCR/PDRF). Snapshot analysis was developed for the genotyping of pigs to detect polymorphic markers of meat-feeding productivity of pigs on the Genas PRKAG3, MyOD1, MC4R. At the first stage, there was an assessment of tribal young (173 heads) on its own productivity in terms of indicators: the age of achieving the living mass of 100 kg, the average daily increase (d) from birth to the live weight of 100 kg, the length of the body (cm), the lifetime meat quality of the thickness of the scrape (mm), height of the longest back muscles (mm), the content of meat in the body (%). At the second stage of the research, the controlling fastenings of 200 goals of pigs and evaluation of feedst and meat qualities in the following indicators were carried out: the age of achieving a living mass of 100 kg (days), the average daily increase (d), feed consumption per 1 kg of growth (to. Units). Also determined: the length of the carcass (cm), the slaughter output (%), the thickness of the spick over 6-7 breast vertebrae (mm), the area of "muscular eye" (cm2), the mass of the rear third of the half carcass (kg), the flow of meat in the carcus (%). Then, genetic studies were compared with productivity indicators.Results. As a result of the research, it was found that in the tested animals, the frequency of the preferred allele I-PRKAG3 made 0.171-0.288, A-MC4R – 0.243-0.315, and C-MYOD1 – 0.064-0.477, respectively. The developed comprehensive system for assessing the breeding value of Yorkshire and Landrace pigs based on the marker genes PRKAG3, MC4R, and MYOD1 allowed us to identify the preferred alleles and determine correlation with productivity traits that provided increase in the average population values: for self-productivity - by 2-4%, for fattening traits - by 2.7-12.5%, for meat traits - by 2.8-34.4 %.Conclusion. The use of integrated system in pig breeding will speed up the selection work to increase the indicators of fattening and meat productivity of the created breeding herds of Yorkshire and Landrace pigs.

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