scholarly journals Trisomy 18 Case, with and without Cardiac Surgery

2020 ◽  
Vol 2 (3) ◽  
pp. 405-409
Author(s):  
Herlina Dimiati ◽  
Cut Nanda Feby Ayulinda
Keyword(s):  
Cardiac Surgery ◽  
Poor Prognosis ◽  
Congenital Heart ◽  
Heart Defects ◽  
Common Factors ◽  
Trisomy 18 ◽  
Chromosomal Disorder ◽  
Edwards Syndrome ◽  
Reduction Of Mortality ◽  
One Year

Trisomy 18, known as Edwards Syndrome, is the second-largest chromosomal disorder with a poor prognosis with the survival rate from 5 to 10% at one year of age. The most common factors underlying death are congenital heart defects, heart failure, and pulmonary hypertension. Cardiac surgery performed to patients with Trisomy 18 is associated with a reduction of mortality. This case report presents two cases of Trisomy 18, in which one of them underwent cardiac surgery.

scholarly journals Long Survival of a Patient with Trisomy 18 and Dandy-Walker Syndrome

Medicina ◽  
2019 ◽  
Vol 55 (7) ◽  
pp. 352
Author(s):  
Ferreira de Souza ◽  
Galvão e Brito Medeiros ◽  
Júnior ◽  
de Melo ◽  
Dias
Keyword(s):  
Cardiac Surgery ◽  
Heart Defects ◽  
Extra Chromosome ◽  
Ductus Arteriosus ◽  
Pulmonary Stenosis ◽  
Double Outlet Right Ventricle ◽  
Trisomy 18 ◽  
Term Survival ◽  
One Year

Trisomy 18 is a genetic disease resulting from an extra chromosome 18, characterized by a broad clinical spectrum, poor prognosis and low rates of survival. This is the case of a 12 year-old girl diagnosed with full trisomy 18, and multiple malformations, including Dandy-Walker Syndrome and congenital heart defects on long term survival. At nine months, a new echocardiogram showed a double outlet right ventricle, significant pulmonary stenosis, patent ductus arteriosus and ventricular septal defect. Cardiac surgery was performed at one year and seven months. Early surgical intervention and multidisciplinary follow-up may change the clinical outcome of the disease. Further studies are required to evaluate the benefit of invasive procedures such as cardiac surgery on survival of patients with trisomy 18.

scholarly journals Down syndrome and congenital heart disease: perioperative planning and management

2021 ◽  
Vol 5 (1) ◽  
Author(s):  
Dennis R. Delany ◽  
Stephanie S. Gaydos ◽  
Deborah A. Romeo ◽  
Heather T. Henderson ◽  
Kristi L. Fogg ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Down Syndrome ◽  
Cardiac Surgery ◽  
Heart Disease ◽  
Congenital Heart ◽  
Single Ventricle ◽  
Heart Defects ◽  
Careful Consideration ◽  
Children With Down Syndrome ◽  
Perioperative Planning

AbstractApproximately 50% of newborns with Down syndrome have congenital heart disease. Non-cardiac comorbidities may also be present. Many of the principles and strategies of perioperative evaluation and management for patients with congenital heart disease apply to those with Down syndrome. Nevertheless, careful planning for cardiac surgery is required, evaluating for both cardiac and noncardiac disease, with careful consideration of the risk for pulmonary hypertension. In this manuscript, for children with Down syndrome and hemodynamically significant congenital heart disease, we will summarize the epidemiology of heart defects that warrant intervention. We will review perioperative planning for this unique population, including anesthetic considerations, common postoperative issues, nutritional strategies, and discharge planning. Special considerations for single ventricle palliation and heart transplantation evaluation will also be discussed. Overall, the risk of mortality with cardiac surgery in pediatric patients with Down syndrome is no more than the general population, except for those with functional single ventricle heart defects. Underlying comorbidities may contribute to postoperative complications and increased length of stay. A strong understanding of cardiac and non-cardiac considerations in children with Down syndrome will help clinicians optimize perioperative care and long-term outcomes.

scholarly journals How do caregivers of children with congenital heart diseases access and navigate the healthcare system in Ethiopia?

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Sugy Choi ◽  
Heesu Shin ◽  
Jongho Heo ◽  
Etsegenet Gedlu ◽  
Berhanu Nega ◽  
...  
Keyword(s):  
Health Care ◽  
Cardiac Surgery ◽  
Health Care System ◽  
Low Income ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
Care Facility ◽  
Long Distance ◽  
Care System

Abstract Background Surgery can correct congenital heart defects, but disease management in low- and middle-income countries can be challenging and complex due to a lack of referral system, financial resources, human resources, and infrastructure for surgical and post-operative care. This study investigates the experiences of caregivers of children with CHD accessing the health care system and pediatric cardiac surgery. Methods A qualitative study was conducted at a teaching hospital in Ethiopia. We conducted semi-structured interviews with 13 caregivers of 10 patients with CHD who underwent cardiac surgery. We additionally conducted chart reviews for triangulation and verification. Interviews were conducted in Amharic and then translated into English. Data were analyzed according to the principles of interpretive thematic analysis, informed by the candidacy framework. Results The following four observations emerged from the interviews: (a) most patients were diagnosed with CHD at birth if they were born at a health care facility, but for those born at home, CHD was discovered much later (b) many patients experienced misdiagnoses before seeking care at a large hospital, (c) after diagnosis, patients were waiting for the surgery for more than a year, (d) caregivers felt anxious and optimistic once they were able to schedule the surgical date. During the care-seeking journey, caregivers encountered financial constraints, struggled in a fragmented delivery system, and experienced poor service quality. Conclusions Delayed access to care was largely due to the lack of early CHD recognition and financial hardships, related to the inefficient and disorganized health care system. Fee waivers were available to assist low-income children in gaining access to health services or medications, but application information was not readily available. Indirect costs like long-distance travel contributed to this challenge. Overall, improvements must be made for district-level screening and the health care workforce.

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>

scholarly journals Ethnic-specific mortality of infants undergoing congenital heart surgery in England and Wales

2019 ◽  
Vol 104 (9) ◽  
pp. 844-850 ◽  
Author(s):  
Rachel L Knowles ◽  
Deborah Ridout ◽  
Sonya Crowe ◽  
Catherine Bull ◽  
Jo Wray ◽  
...  
Keyword(s):  
Cardiac Surgery ◽  
Prenatal Diagnosis ◽  
Mortality Risk ◽  
Congenital Heart ◽  
Heart Defects ◽  
Postoperative Mortality ◽  
England And Wales ◽  
White Ethnicity ◽  
Paediatric Cardiac Surgery ◽  
Cardiac Diagnosis

PurposeTo investigate ethnic differences in mortality for infants with congenital heart defects (CHDs) undergoing cardiac surgery or interventional catheterisation.DesignObservational study of survival to age 1 year using linked records from routine national paediatric cardiac surgery and intensive care audits. Mortality risk was investigated using multivariable Poisson models with multiple imputation. Predictors included sex, ethnicity, preterm birth, deprivation, comorbidities, prenatal diagnosis, age and weight at surgery, preprocedure deterioration and cardiac diagnosis.SettingAll paediatric cardiac surgery centres in England and Wales.Patients5350 infants with CHDs born from 2006 to 2009.Main outcome measureSurvival at age 1 year.ResultsMortality was 83.9 (95% CI 76.3 to 92.1) per 1000 infants, with variation by ethnic group. Compared with those of white ethnicity, infants in British Asian (Indian, Pakistani and Bangladeshi) and ‘all other’ (Chinese, mixed and other) categories experienced significantly higher mortality by age 1 year (relative risk [RR] 1.52[95% CI 1.19 to 1.95]; 1.62[95% CI 1.20 to 2.20], respectively), specifically during index hospital admission (RR 1.55 [95% CI 1.07 to 2.26]; 1.64 [95% CI 1.05 to 2.57], respectively). Further predictors of mortality included non-cardiac comorbidities, prenatal diagnosis, older age at surgery, preprocedure deterioration and cardiac diagnosis. British Asian infants had higher mortality risk during elective hospital readmission (RR 1.86 [95% CI 1.02 to 3.39]).ConclusionsInfants of British Asian and ‘all other’ non-white ethnicity experienced higher postoperative mortality risk, which was only partly explained by socioeconomic deprivation and access to care. Further investigation of case-mix and timing of risk may provide important insights into potential mechanisms underlying ethnic disparities.

scholarly journals 37 Growth and neurodevelopment in early childhood of preterm infants with complex congenital heart defects following open cardiac surgery

2020 ◽  
Vol 25 (Supplement_2) ◽  
pp. e14-e15
Author(s):  
Po-Yin Cheung ◽  
Morteza Hajihosseini ◽  
Irina Dinu ◽  
Heather Switzer ◽  
Charlene M T Robertson
Keyword(s):  
Early Childhood ◽  
Hearing Loss ◽  
Cardiac Surgery ◽  
Cerebral Palsy ◽  
Preterm Infants ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Neurodevelopmental Outcome ◽  
Neurodevelopmental Outcomes

Abstract Background Compared with those born at term gestation, infants with complex congenital heart defects (CCHD) who were delivered before 37 weeks of gestational age and received neonatal open cardiac surgery (OHS) have poorer neurodevelopmental outcomes in early childhood. Specific details related to the neurodevelopmental outcome of these infants remain unpublished. Objectives To describe the growth, disability, functional, and neurodevelopmental outcome in early childhood of preterm infants (born at &lt;37+0 weeks gestation) with CCHD and neonatal OHS. Design/Methods We studied all infants with CCHD who received OHS within 6 weeks of corrected age between 1996 and 2016. In the Western Canadian Complex Pediatric Therapies Follow-up Program, comprehensive neurodevelopmental assessments at a corrected age of 18-24 months were done by multidisciplinary teams at the original referral sites. In addition to demographic and clinical data, standardized age-appropriate outcome measures included physical growth with calculated Z-scores, disabilities including cerebral palsy, visual impairment, sensorineural hearing loss; adaptive function (Adaptive Behavioural Assessment System-II); and cognitive, language, and motor skills (Bayley Scales of Infant and Toddler Development-III). Results From 1996 to 2016, 115 preterm infants (34±2 weeks gestation, 2339±637g, 64% males) with CCHD had OHS with 11(10%) deaths before first discharge and 21 (18%) by 2 years. Prior to the first surgery, 7 (6%) neonates had cerebral injuries. Overall, 7 had necrotizing enterocolitis; none had retinopathy of prematurity. All 94 surviving infants received comprehensive evaluation at 2 years corrected age; Eighteen (19%) had congenital syndromes who had worse functional and neurodevelopmental outcomes compared to those (n=76) without syndromal abnormalities (SA) (Table). Conclusion For preterm neonates with CCHD and early OHS, the mortality was significant, but the short-term neonatal morbidity was not increased. Compared with published preterm outcomes, the early outcome suggests more cerebral palsy but not sensorineural hearing loss, and greater neurodevelopmental delay. This information is important for management care of the infants, parental counselling and the decision-making process.

Optimizing response of the neonate and infant to cardiopulmonary bypass

2005 ◽  
Vol 15 (S1) ◽  
pp. 142-148 ◽  
Author(s):  
Ross M. Ungerleider
Keyword(s):  
Cardiac Surgery ◽  
Cardiopulmonary Bypass ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Normal Anatomy ◽  
Complete Repair ◽  
Innovative Techniques

The evolution of cardiac surgery has led to increasing emphasis on complete repair of congenital heart defects early in life, nowadays increasingly performed in neonates or small infants. Good results have been achieved because of innovative techniques permitting reconstruction of normal anatomy, and restoration of normal physiology, before either the heart or the patient undergo deleterious adaptation to the congenitally abnormal physiology. Despite the ability surgically to correct complex defects in such small patients, limitations in outcome are sometimes encountered related to the systems necessary for repair. In particular, exposure to cardiopulmonary bypass may present the greatest challenge for these tiny patients.

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