scholarly journals Cytomegalovirus infection and congenital heart disease in children

2019 ◽  
Vol 11 (2) ◽  
pp. 71-79
Author(s):  
E. A. Каshuba ◽  
Yu. S. Chehova ◽  
K. V. Gorbatikov ◽  
T. G. Drozdova ◽  
I. S. Totolin ◽  
...  
Keyword(s):  
Postoperative Complications ◽  
Congenital Heart Defects ◽  
Cytomegalovirus Infection ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
Specific Treatment ◽  
Underlying Disease ◽  
Immune Mediated ◽  
Polymerase Chain

Congenital heart defects account for about 30% of all anomaly of development in children. Cytomegalovirus infection suffered by a woman during pregnancy claims one of the leading places among teratogenic factors.Aim: to study clinical and pathogenetic features of congenital heart diseases in children with active cytomegalovirus infection.Materials and methods: the survey included 240 children with congenital heart defects under 1 years old. The diagnosis was verified by enzyme immunoassay with detection of immunoglobulins of classes M and G to cytomegalovirus and by polymerase chain reaction, the material for which was blood and urine.Results. For congenital heart defects with the active forms of cytomegalovirus infection is characterized by a higher frequency of combined defects and the development of critical states. Children with cytomegalovirus infection in 40% suffered intrauterine myocarditis of cytomegalovirus etiology, which weighed the course of the underlying disease. The features characteristic of IUI was determined much more often (in the analysis of the noncardiac symptoms). Specific therapy of active forms of cytomegalovirus infection in children before surgery for correction of congenital heart defects has reduced the likelihood of postoperative complications.Summary. Cytomegalovirus infection has a direct teratogenic effect and can provoke the development of congenital heart defects. In addition, the virus has a cardiotropic and immune-mediated effect on the myocardium. This leads to the development of intrauterine myocarditis, which aggravates the course of the disease. The specific treatment of active forms of cytomegalovirus infection in children before surgery for the correction of congenital heart defects, reduces the likelihood of postoperative complications.

scholarly journals Personalized Genetic Diagnosis of Congenital Heart Defects in Newborns

2021 ◽  
Vol 11 (6) ◽  
pp. 562
Author(s):  
Olga María Diz ◽  
Rocio Toro ◽  
Sergi Cesar ◽  
Olga Gomez ◽  
Georgia Sarquella-Brugada ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart Defects ◽  
Congenital Malformations ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
Genetic Diagnosis ◽  
Single Nucleotide Variants ◽  
Personalized Approach

Congenital heart disease is a group of pathologies characterized by structural malformations of the heart or great vessels. These alterations occur during the embryonic period and are the most frequently observed severe congenital malformations, the main cause of neonatal mortality due to malformation, and the second most frequent congenital malformations overall after malformations of the central nervous system. The severity of different types of congenital heart disease varies depending on the combination of associated anatomical defects. The causes of these malformations are usually considered multifactorial, but genetic variants play a key role. Currently, use of high-throughput genetic technologies allows identification of pathogenic aneuploidies, deletions/duplications of large segments, as well as rare single nucleotide variants. The high incidence of congenital heart disease as well as the associated complications makes it necessary to establish a diagnosis as early as possible to adopt the most appropriate measures in a personalized approach. In this review, we provide an exhaustive update of the genetic bases of the most frequent congenital heart diseases as well as other syndromes associated with congenital heart defects, and how genetic data can be translated to clinical practice in a personalized approach.

scholarly journals Role of toll-like receptors in complications of cardiac surgery for congenital heart defects in children

2021 ◽  
Vol 25 (3) ◽  
pp. 34
Author(s):  
A. V. Tsepokina ◽  
A. A. Anikeenko ◽  
S. A. Shmulevich ◽  
A. V. Ponasenko ◽  
A. V. Shabaldin
Keyword(s):  
Cardiac Surgery ◽  
Postoperative Complications ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Gene Interaction ◽  
Infectious Complications ◽  
Toll Like Receptors ◽  
Cytokines And Chemokines ◽  
Polymorphic Variants

<p><strong>Background.</strong> Cardiac surgery in combination with hypothermia, ischaemia and reperfusion leads to an inflammatory response causing postoperative complications. Toll-like receptors are signalling molecules through which some functions of innate immunity can be activated, and polymorphic variants in the TLR-family genes can be predictors of complications after cardiac surgery.<br /><strong>Aim.</strong> To study the associations of TLR-family genes with infectious and non-infectious complications of cardiac surgery for congenital heart defects.<br /><strong>Methods.</strong> The study included 89 children (44 girls and 45 boys) with congenital heart defects who underwent cardiac surgery. Complications occurred in 47 children 47 days after cardiac surgery. There were no complications in 42 children. Genotyping was performed by real-time PCR using TaqMan probes.<br /><strong>Results.</strong> A two-locus model of gene-gene interaction between <em>TLR1</em> rs5743551 and <em>TLR2</em> rs3804099 was the best fit, accounting for 4.01% of phenotypic entropy. The <em>TLR2</em> gene polymorphic variant rs5743708 had the highest predictive potential (2.59%).<br /><strong>Conclusion.</strong> The development of postoperative complications of cardiac surgical treatment for congenital heart defects can be due to the synergistic effect of the polymorphic variants rs5743551 in the <em>TLR1</em> gene and rs3804099 in the <em>TLR2</em> gene. This effect occurs through the features of <em>TLR1</em> and <em>TLR2</em> transcription, the subsequent expression of receptors on cells and signalling which activates the synthesis of proinflammatory cytokines and chemokines.</p><p>Received 25 February 2021. Revised 11 May 2021. Accepted 12 May 2021.</p><p><strong>Funding:</strong> The work is supported by the complex program of fundamental research of the Siberian Branch of the Russian Academy of Sciences (No. 0554-2019-0002).</p><p><strong>Conflict of interest:</strong> The authors declare no conflicts of interests.</p><p><strong>Contribution of the authors</strong><br />Conception and study design: A.V. Shabaldin, A.V. Ponasenko, A.V. Tsepokina<br />Data collection and analysis: A.A. Anikeenko, A.V. Tsepokina, S.A. Shmulevich<br />Statistical analysis: A.V. Shabaldin, A.V. Tsepokina<br />Drafting the article: A.V. Shabaldin, A.V. Tsepokina, A.V. Ponasenko<br />Critical revision of the article: A.V. Tsepokina<br />Final approval of the version to be published: A.V. Tsepokina, A.A. Anikeenko, S.A. Shmulevich, A.V. Ponasenko, A.V. Shabaldin</p>

Fetal echocardiography in Lithuania: traditions, significance and problems

2010 ◽  
Vol 17 (3-4) ◽  
pp. 116-122
Author(s):  
Ramunė VANKEVIČIENĖ
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Fetal Echocardiography ◽  
Heart Defects ◽  
Tertiary Care ◽  
Congenital Heart Diseases ◽  
Conduction Disturbances ◽  
Tertiary Care Centers ◽  
Almost All

Background. The discovery of ultrasound has made a revolution in almost all fields of medicine. The past three decades have withessed an intensive development of fetal echocardiography methods and technique. The aim of the paper is to present a review of the results and trends of the last 10 years of fetal echocardiography in Lithuania and to show the spectrum and outcomes of prenatally detected congenital heart diseases. Materials and methods. Fetal echocardiography was performed for 1816 fetuses during the period from 1999 to 2009. Results. Cardiac pathology was diagnosed in 176 (9.7%) fetuses. Heart defects were detected in 112 (63.6%) of them, cardiac rhythm and conduction disturbances in 62 (35.2%), cardiomyopathy in 2 (1.1%) fetuses, and heart rhabdomyoma in 1 (0.6%) fetus. The general rate of the postnatal diagnosis of congenital heart defects in Lithuania was about 10%. Most of fetal cardiac diseases (70.5%) were diagnosed after 22 weeks of gestation. Because most of antenatally diagnosed congenital heart defects (74%) were critical and inconsistent with life, a large part of newborns (40.2%) died in the neonatal period, 10.7% of fetuses died in utero, and 8% of pregnancies were terminated by abortion. The data demonstrate good tendencies: the diagnosis has become earlier, a wider spectrum of diseases have been diagnosed, more newborns have survived. Our survey shows that 41.1% of newborns with prenatally diagnosed congenital heart defects have survived. Conclusions. 10% of severe congenital heart diseases are detected prenatally in Lithuania. The efficacy of antenatal diagnostics depends on the qualification of specialists, the number of tertiary care centers, on a successful collaboration among pediatric cardiologists, obstetricians and geneticists. The main problem is an insufficient preparation of obstetricians, the uncertified favor of pediatric cardiologist. Keywords: congenital heart disease, fetal echocardiography, antenatal diagnostics

scholarly journals Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 2021
Author(s):  
Katarzyna Kowalczyk ◽  
Magdalena Bartnik-Głaska ◽  
Marta Smyk ◽  
Izabela Plaskota ◽  
Joanna Bernaciak ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Comparative Genomic Hybridization ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Array Cgh ◽  
Heart Diseases ◽  
Heart Defects ◽  
Comparative Genomic ◽  
Genomic Hybridization ◽  
Fetal Ultrasound

Congenital heart defects (CHDs) appear in 8–10 out of 1000 live born newborns and are one of the most common causes of deaths. In fetuses, the congenital heart defects are found even 3–5 times more often. Currently, microarray comparative genomic hybridization (array CGH) is recommended by worldwide scientific organizations as a first-line test in the prenatal diagnosis of fetuses with sonographic abnormalities, especially cardiac defects. We present the results of the application of array CGH in 484 cases with prenatally diagnosed congenital heart diseases by fetal ultrasound scanning (256 isolated CHD and 228 CHD coexisting with other malformations). We identified pathogenic aberrations and likely pathogenic genetic loci for CHD in 165 fetuses and 9 copy number variants (CNVs) of unknown clinical significance. Prenatal array-CGH is a useful method allowing the identification of all unbalanced aberrations (number and structure) with a much higher resolution than the currently applied traditional assessment techniques karyotype. Due to this ability, we identified the etiology of heart defects in 37% of cases.

scholarly journals The role of maternal HLA-DR and HLA-G loci in determining the risk of sporadic congenital heart defects in the next generation

2021 ◽  
Vol 66 (5) ◽  
pp. 42-48
Author(s):  
N. S. Deeva ◽  
A. V. Tsepokina ◽  
S. A. Shmulevich ◽  
A. V. Shabaldin
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Human Leukocyte ◽  
Next Generation ◽  
Chain Reaction ◽  
Hla Dr ◽  
Polymerase Chain ◽  
Chromosomal Diseases

The paper considers the role of maternal HLA-DR (Human Leukocyte Antigens-DR) and HLA-G (Human Leukocyte Antigen-G) loci in determining the risk of the formation of sporadic congenital heart defects without chromosomal diseases in the next generation. The HLA-G molecule expressed on trophoblast performs a protective function by blocking killer receptors on natural killer cells (NK cells). At the same time, the maternal alleles of HLA-DRB1 restrict the immune response to allogeneic antigens of the paternal embryo, which may affect the severity of inflammation in the mother-embryo system and through this mechanism induce the formation of heart disease.Objective: to study the frequency distribution of the combinations of alleles and genotypes of HLA-G 3’UTR and HLA-DRB1 in women with children with sporadic congenital heart defects without chromosomal diseases. Children characteristics and research methods. There were formed 2 groups: Main Group (103 women with children with sporadic congenital heart defects without chromosomal diseases) and Control Group (103 women with conditionally healthy children). Genomic DNA was isolated by phenol-chloroform extraction. Typing of HLA-G 3’UTR 14-bp insertion/deletion was performed by amplification of polymorphic regions of genes by polymerase chain reaction with further electrophoretic detection in polyacrylamide gel 6.0. The frequency analysis of 14 alleles of the HLA-DRB1 gene was performed by real-time polymerase chain reaction. In the course of this work the authors identified predictor and protective combined genotypes.Conclusion. HLA-DRB1 and HLA-G 3’UTR 14-bp ins/del (rs 1704) make a significant contribution to determining the risk of the formation of sporadic congenital heart defects without chromosomal diseases in the next generation.

scholarly journals Screening for congenital heart defects: diversified strategies in current China

2019 ◽  
Vol 2 (1) ◽  
pp. e000051 ◽  
Author(s):  
Xiwang Liu ◽  
Weize Xu ◽  
Jiangen Yu ◽  
Qiang Shu
Keyword(s):  
Pulse Oximetry ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Fetal Echocardiography ◽  
Heart Defects ◽  
Financial Burden ◽  
Multiple Perspectives ◽  
Medical Resources ◽  
Indicator Method

BackgroundCongenital heart defects (CHD) is the most common type of birth defect and a leading cause of infant mortality in China. Detection of CHD during newborn is still challenging. The contradiction between the increasingly mature technology of diagnosis and treatment and the inability of early detection is the biggest current dilemma. A few pilot studies attempt to establish the universal screening for CHD in newborns; however, the rate of misdiagnosis is still high in most Chinese hospitals, especially in some undeveloped middle-western regions.Data sourcesBased on the recent publications on screening of congenital heart diseases in China. We reviewed the use of diversified screening strategies in current China.ResultsPrenatal diagnosis by fetal echocardiography and postnatal detection by pulse oximetry combined with clinical assessment are the useful methods for CHD screening in most areas. The altitude should be taken into account when using pulse oximetry in the middle-western areas of China, where the incidence of CHD maybe higher. Echocardiography is suitable for CHD screening in almost all areas but it could add to financial burden in the developing regions. Genetic analysis could assist clinical doctors to perform more earlier screening and give better counseling regarding the outcome. Due to disparities in economic and medical resources, the screening system should be carried out from multiple perspectives according to the present economic development. Notably, follow-up is an important issue in the screening of CHD, especially for the asymptomatic babies who discharged home. Policies should be formulated to address the epidemiology of CHD in deprived areas to better allocate medical resources and to develop local training programmes to screen and diagnose CHD.ConclusionsDiversified strategies are available in current China. The two-indicator method for CHD screening is recommended to be implemented in routine postnatal care. We can do more in screening for CHD in the future.

scholarly journals Naujagimių įgimtų širdies ydų chirurgija: Vilniaus universiteto Širdies chirurgijos centro patirtis

2007 ◽  
Vol 5 (3) ◽  
pp. 0-0
Author(s):  
Virgilijus Lebetkevičius ◽  
Virgilijus Tarutis ◽  
Rita Sudikienė ◽  
Daina Liekienė ◽  
Kęstutis Lankutis ◽  
...  
Keyword(s):  
Cardiopulmonary Bypass ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Surgery ◽  
Heart Diseases ◽  
Heart Defects ◽  
University Hospital ◽  
Congenital Heart Diseases ◽  
Corrective Surgery ◽  
Vilnius University

Virgilijus Lebetkevičius1, Virgilijus Tarutis1, Rita Sudikienė1, Daina Liekienė1, Kęstutis Lankutis1, Giedrė Nogienė1, Vidmantas Jonas Žilinskas1, Vytautas Sirvydis1, Kęstutis Versockas2, Žydrė Jurgelienė2, Asta Bliūdžiūtė21 Vilniaus universiteto Širdies chirurgijos centras, Santariškių g. 2, LT-08661 Vilnius2 Vilniaus universiteto ligoninės Santariškių klinikų Anesteziologijos,intensyviosios terapijos ir skausmo gydymo centras, Santariškių g. 2, LT-08661 VilniusEl paštas: [email protected] Tikslas Apžvelgti Vilniaus universiteto Širdies chirurgijos centro naujagimių įgimtų širdies ydų chirurgijos rezultatus, juos įvertinti ir padaryti išvadas. Metodai Nuo 1964 iki 2006 metų Vilniaus universiteto Širdies chirurgijos centre atlikta 5066 įgimtų širdies ydų operacijos vaikams iki 18 metų. Naujagimių dalis – 307 operacijos (6,1%). Korekcijos naujagimiams atliktos naudojant dirbtinę kraujo apytaką (DKA) ir be jos. Rezultatai Įgimtų širdies ydų operacijos suskirstytos į keturis etapus. 1974–1990 metai (1974 m. atlikta pirmoji širdies operacija naujagimiui). Tuo laikotarpiu mirštamumas buvo 100%. 1991–1995 metais – mirštamumas 71%, 1996–2000 metais – mirštamumas 68%, 2001–2006 metais – mirštamumas 38%, 2006 metais mirštamumas – 22%. Išvados Analizuojant naujagimių širdies chirurgijos rezultatus, pažymėtina, kad per pastaruosius metus mirštamumas sumažėjo iki priimtinų dydžių, kurie artėja prie kitų pasaulio širdies chirurgijos klinikų rezultatų. Gerėjant visam kompleksui tyrimo, gydymo, slaugymo priemonių visose grandyse (kardiologija, anesteziologija-reanimatologija, chirurgija), mirštamumą įmanoma sumažinti iki minimalaus. Pagrindiniai žodžiai: įgimtos širdies ydos, širdies chirurgija, naujagimiai Corrective surgery of congenital heart defects: experience of Vilnius University Heart Surgery Centre Virgilijus Lebetkevičius1, Virgilijus Tarutis1, Rita Sudikienė1, Daina Liekienė1, Kęstutis Lankutis1, Giedrė Nogienė1, Vidmantas Jonas Žilinskas1, Vytautas Sirvydis1, Kęstutis Versockas2, Žydrė Jurgelienė2, Asta Bliūdžiūtė21 Vilnius University, Heart Surgery Centre, Santariškių str. 2, LT-08661 Vilnius2 Vilnius University Hospital „Santariškių klinikos“, Anaesthesiology Intensive Careand Pain Management Centre, Santariškių str. 2, LT-08661 VilniusE-mail: [email protected] Objective To access the outcome and mortality trend in newborns undergoing corrective surgery for congenital heart defect. Methods We reviewed the hospital records on 307 neonates under 30 days of life, who had congenital heart defects operated on at the Heart Surgery Center of Vilnius University, Lithuania, in 1994 through 2006. Early and late mortality results were analyzed. Results From January 1974 to 2006, 307 neonates with congenital heart disease underwent surgical repair at Heart Surgery Clinic of Vilnius University. It came to 6.1% of all 5066 procedures of the congenital heart diseases performed. The number of neonate operations considerably increased in the later years, because a special department with proper technique was established. 144 neonates underwent surgery repair with cardiopulmonary bypass and 163 neonates were operated on without cardiopulmonary bypass. The mean age of the patients was 11.8 ± 0.28 days. There were 113 girls and 194 boys. Conclusions Mortality from 71% in 1991–1995 dropped to 38% in 2001–2006 and 22% in 2006. Key words: congenital heart diseases, cardiosurgery, neonates

scholarly journals POSTTRANSCRIPTIONAL REGULATION IN CONGENITAL HEART DISEASE: THE ROLE OF miRNA

2019 ◽  
Vol 8 (3) ◽  
pp. 85-95
Author(s):  
A. V. Ponasenko ◽  
A. V. Tsepokina
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart Defects ◽  
Posttranscriptional Regulation ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
Ecological Factors ◽  
Fetal Abnormality

Congenital heart disease is the most common fetal abnormality resulting in high pediatric disability and mortality. Congenital heart disease is a heterogeneous group of cardiac abnormalities including atrial septal defect, valvular defects and cardiac outflow tract anomalies. Genetic, epigenetic and ecological factors leading to the development of congenital heart defects in each particular case remain poorly understood. Nevertheless, multifactorial and polygenic mechanisms underlying the disease may be suggested. Moreover, advanced genetic technologies including single nucleotide polymorphism testing, copy number variation and next-generation sequencing ensure early detection of genetic causes of heart abnormalities. Recent studies suggested the contributing role of small non-coding RNA (miRNA) in the pathogenesis of congenital heart defects. miRNA is known to coordinate the development of heart and stimulate such pathological processes like fibrosis, hypertrophy and impaired angiogenesis. Thus, the study of miRNA and its impact on the pathogenesis of various heart diseases has demonstrated its promising potential for therapeutic targets in regenerative medicine. The review presents recent genetic findings, miRNA functions, signaling pathways and evidences on its role in the development of certain congenital heart defects.

scholarly journals Perspectives in the management of congenital heart defects in adult patients

2015 ◽  
Vol 156 (3) ◽  
pp. 92-97
Author(s):  
István Hartyánszky ◽  
Sándor Varga ◽  
Kálmán Havasi ◽  
Barna Babik ◽  
Márta Katona ◽  
...  
Keyword(s):  
Heart Transplantation ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
Adult Patients ◽  
Univentricular Heart ◽  
Transposition Of Great Arteries ◽  
Number Of Patients

Due to improving results in congenital heart surgery, the number of adult patients with congenital heart defect is increasing. The question is: what kind of problems can be managed in this patient-group? The authors review the different problems of management of congenital heart defects in adults based on national and international literature data. Simple defects recognised in adults, postoperative residual problems, changing of small grafts and valves, correction of primary or operated coarctation aortae can be usually managed without problems. A very close follow-up is necessary to establish the correct period for heart transplantation in patients with transposition of great arteries with Senning/Mustard operation, and univentricular heart corrected with “Fontan-circulation” type surgical procedure. The authors conclude that although the number of patients increases, only a few congenital heart diseases may cause problems. It seems important (1) to monitor asymptomatic patient who underwent operation (Fallot-IV, Ross procedure, etc.), (2) follow up regularly patients who underwent Senning/Mustard procedure (magnetic resonance imaging, echocardiography, brain natriuretic peptide measurement), (3) define the proper period of preparation for heart transplantation of patients with a univentricular heart, with special attention to the possibility of multiorgan (lung, liver, etc.) failure. Due to the improvement of foetal diagnosis of congenital heart defects, the number of patients with complex congenital heart defects is decreasing. The standard management of these patients could be primary heart transplantation in infancy. Orv. Hetil., 2015, 156(3), 92–97.

Sign in / Sign up

Export Citation Format

Share Document