Catching congenital heart diseases early : the ten- point approach for Bhutan

2016 ◽  
Vol 2 (2) ◽  
pp. 34-36
Author(s):  
Purushotam Bhandari
Keyword(s):  
Congenital Heart Defects ◽  
Birth Defect ◽  
Congenital Heart ◽  
School Health ◽  
Sick Child ◽  
Heart Diseases ◽  
Heart Defects ◽  
Congenital Heart Diseases ◽  
Pediatric Residents ◽  
Delayed Initiation

Congenital heart disease is the most common birth defect and is the main reason for out country referral of pediatric patients from Bhutan. Given the limited resources and expertise, detecting congenital heart defects is often delayed, resulting in delayed initiation of treatment and management of associated complications. Congenital heart diseases, if detected early, can be appropriately treated and complications minimized. A ten-point approach consisting of antenatal diagnosis, neonatal pulse oximetry, well child visits, sick child visits, immunization clinics, school health checkups, pediatric echocardiographers, pediatric cardiologists, basic echocardiography skills in pediatric residents and comprehensive birth defect surveillance is suggested, in order to catch congenital heart defects early in life.

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 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 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 Result of airway reconstruction by slide tracheobronchoplasty in children with congenital heart diseases and severe airway stenosis at Hanoi Heart Hospital: A series case report

2021 ◽  
Vol 35 ◽  
pp. 67-74
Author(s):  
Tong Duy Phuc ◽  
Nguyen Sinh Hien ◽  
Nguyen Dang Hung ◽  
Vuong Hoang Dung
Keyword(s):  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
Case Series ◽  
Congenital Heart Diseases ◽  
Tracheobronchial Stenosis ◽  
Airway Stenosis ◽  
Heart Repair ◽  
Airway Reconstruction ◽  
Heart Hospital

Abstract: Congenital airway stenosis (tracheobronchial stenosis) in children is rare, difficult to treat and become more complex when associated with congenital heart defects. In severe airway stenosis, slide tracheobronchoplasty is the most optimal strategy to manage this condition, yet really challenging. We report case series with this combined condition of airway stenosis and congenital heart diseases, which were successfully treated by slide tracheobronchoplasty with concomitant heart repair. We also discuss about the indication, surgical technique as well as postoperative care.

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 Nonmedical Determinants of Congenital Heart Diseases in Children from the Perspective of Mothers: A Qualitative Study in Iran

2021 ◽  
Vol 2021 ◽  
pp. 1-10
Author(s):  
Maryam Borjali ◽  
Mostafa Amini-Rarani ◽  
Mehdi Nosratabadi
Keyword(s):  
Qualitative Study ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
Well Being ◽  
Noncommunicable Diseases ◽  
Congenital Heart Diseases ◽  
Semistructured Interview ◽  
Congenital Diseases ◽  
The World

Introduction. Mortality due to noncommunicable diseases has increased in the world today with the advent of demographic shifts, growing age, and lifestyle patterns in the world, which have been affected by economic and social crises. Congenital heart defects are one of the forms of diseases that have raised infant mortality worldwide. The objective of present study was to identify nonmedical determinants related to this abnormality from the mother’s perspectives. Methods. This research was a qualitative study and the data collection method was a semistructured interview with mothers who had children with congenital heart diseases referring to the Shahid Rajaei Heart Hospital in Tehran, Iran. A thematic analysis approach was employed to analyze transcribed documents assisted by MAXQDA Plus version 12. Results. Four general themes and ten subthemes including social contexts (social harms, social interactions, and social necessities), psychological contexts (mood disorders and mental well-being), cultural contexts (unhealthy lifestyle, family culture, and poor parental health behaviors), and environmental contexts (living area and polluted air) were extracted from interviews with mothers of children with congenital heart diseases. Conclusions. Results suggest that factors such as childhood poverty, lack of parental awareness of congenital diseases, lack of proper nutrition and health facilities, education, and lack of medical supervision during pregnancy were most related with the birth of children with congenital heart disease from mothers’ prospective. In this regard, targeted and intersectorial collaborations are proposed to address nonmedical determinants related to the incidence of congenital heart diseases.

scholarly journals Environmental Contaminants and Congenital Heart Defects: A Re-Evaluation of the Evidence

2018 ◽  
Vol 15 (10) ◽  
pp. 2096 ◽  
Author(s):  
Rachel Nicoll
Keyword(s):  
Congenital Heart Defects ◽  
Birth Defect ◽  
Congenital Heart ◽  
Heart Defects ◽  
Later Life ◽  
Unknown Etiology ◽  
Common Mechanism ◽  
Vehicle Exhaust ◽  
Contaminant Exposure ◽  
Meta Analyses

Congenital heart defects (CHDs) are a common birth defect of largely unknown etiology, with high fetal and neonatal mortality. A review of CHDs and environmental contaminant exposure found that meta-analyses showed only modest associations for smoking, vehicle exhaust components, disinfectant by-products and proximity to incinerators, with stronger results from the newer, larger and better quality studies masked by the typical absence of effect in older studies. Recent studies of exposure to agricultural pesticides, solvents, metals and landfill sites also showed associations. Certain contaminants have been associated with certain CHDs, with septal defects being the most common. Frequent methodological problems include failure to account for potential confounders or maternal/paternal preconception exposure, differences in diagnosing, defining and classifying CHDs, grouping of defects to increase power, grouping of contaminants with dissimilar mechanisms, exclusion of pregnancies that result in death or later life diagnosis, and the assumption that maternal residence at birth is the same as at conception. Furthermore, most studies use measurement estimates of one exposure, ignoring the many additional contaminant exposures in daily life. All these problems can distort and underestimate the true associations. Impaired methylation is a common mechanism, suggesting that supplementary folate may be protective for any birth defect.

scholarly journals Analysis of the interconnection of the GSTP1, CYP1A2, CYP1A1 genes in children with congenital heart diseases

2020 ◽  
Vol 65 (3) ◽  
pp. 39-43
Author(s):  
A. V. Tsepokina ◽  
A. V. Ponasenko ◽  
A. V. Shabaldin
Keyword(s):  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
Congenital Heart Diseases ◽  
Genotype Distribution ◽  
Healthy Children ◽  
Rt Pcr ◽  
Locus Model ◽  
Healthy Donors ◽  
Pcr Method

The article presents data on the study of gene interconnections between the xenobiotics detoxification genes in various phases.Materials and methods. The study involves 131 children with congenital heart diseases (CHD) and 103 conditionally healthy children. The genotyping was performed by RT-PCR method using TaqMan probes. Intergenic bonds were analyzed via MDR v.3.0.2.Results and conclusion. We discovered no statistically significant differences in the genotype distribution in children with CHD and conditionally healthy donors. The analysis of intergenic interactions helped to develop a five-locus model characterized by the highest reproducibility, sensitivity and specificity: GSTP1 rs1793068 – GSTP1 rs6591256 – GSTP1 rs1871042 – CYP1A1 rs1048943 – CYP1A2 rs762551. This model was used to determine a number of protective and risky combinations of congenital heart defects-associated genotypes in children.

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.

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