scholarly journals The features of nutritional status in children with congenital heart disease

2019 ◽  
Vol 64 (5) ◽  
pp. 194-198
Author(s):  
D. I. Sadykova ◽  
Z. R. Khabibrakhmanova ◽  
A. R. Shakirova ◽  
L. Z. Safina
Keyword(s):  
Cardiac Surgery ◽  
Heart Disease ◽  
Nutritional Status ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
High Risk Group ◽  
Incidence And Mortality ◽  
The Impact

Malnutrition is a common problem in children with congenital heart defects, regardless of the type of defect and the presence / absence of cyanosis. Children born with heart defects form a high-risk group of nutritional deficiency. Surgical treatment of congenital heart defects is often accompanied by metabolic changes and increased needs of energy and protein. Correction of nutritional status in children with congenital heart diseases improves the condition of patients after cardiac surgery. The purpose of our study was to assess the nutritional status of children with congenital heart defects hospitalized to the cardiac surgery department, and to correct their enteral nutrition. The authors analyzed anthropometric data on the Z-score (weight – age) of children admitted to the department for examination and correction of heart disease. The authors concluded that there is need for further studies to assess the impact of changes in nutritional status on the incidence and mortality of patients with congenital heart defects and the possibility of optimal correction of nutritional status.

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 Primary detection of congenital heart diseases in the Kyrgyz Republic

2018 ◽  
Vol 2 (Issue 2) ◽  
pp. 56 ◽  
Author(s):  
Irina Akhmedova ◽  
Gulzada Imanalieva ◽  
Damirbek Abibillaev ◽  
Taalaibek Kudaiberdiev
Keyword(s):  
Congenital Heart Disease ◽  
Cardiac Surgery ◽  
Heart Disease ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
Delayed Diagnosis ◽  
Congenital Heart Diseases ◽  
Kyrgyz Republic ◽  
Surgery Center

Objective: The aim of this paper is to understand the structure of congenital heart diseases (CHD) and the age of the first diagnosis in a population referred to specialized cardiac surgery center from different regions of Kyrgyz Republic. Methods: In 2017, 7213 people of different ages, from Kyrgyz Republic were examined by using transthoracic echocardiogram at cardiac surgery center aimed to detection of congenital heart disease Results: In total, 478 new patients with primary diagnosis of CHD were identified; 413 (86%) patients had a delayed diagnosis. The total detectability was 6.75%. The structure of congenital heart disease has a large difference depending on the age group. The proportion of complex heart defects predominates in newborn children and significantly decreases with age. Conclusion: A study of the prevalence and structure of heart defects in the country will help to find the right decision in planned care for patients with CHD, in cases of limited resources. Keywords: newborn, congenital heart defects, diagnostics, prevalence, echocardiography

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 Szemléletváltozás a Down-szindrómás szívbetegek szívsebészeti kezelésében, 1974–2016

2016 ◽  
Vol 157 (40) ◽  
pp. 1601-1603
Author(s):  
István Hartyánszky ◽  
Gábor Bogáts
Keyword(s):  
Congenital Heart Disease ◽  
Down Syndrome ◽  
Heart Disease ◽  
Life Expectancy ◽  
Surgical Management ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Cardiac Surgeons ◽  
The Impact

Introduction: Congenital heart defects are frequently present in patients with Down syndrome. Aim: The authors analyzed the impact of changing approach in surgical management of congenital heart defect on the life expectancy of patients with Down syndrome. Method: Between 1974 and 1997 the data of 359 children with Down syndrome were collected. Among them 255 patients had no surgery and the mortality in this group was 25.9%, whereas the mortality in the group of 104 patients who underwent palliative surgery was 8.6%. Results: Surgical management of congenital heart defects provides the same life expectancy for these patients as compared to Down patients without cardiac defects. Primary reconstruction is the preferable surgical procedure in infancy that provides good results. Nowadays the number of the operated grown-up congenital heart disease patients with Down syndrome is increasing. During the last three years 82 grown-up congenital heart disease patients, including 4 patients with Down syndrome (aged between 24 and 60 years) were reconstructed successfully. Conclusions: Due to the successful surgery in infancy the population of grown-up congenital heart disease patients with Down syndrome is increasing. The cardiac surgeons are ready to do everything for the optimal life expectancy of these patients. However, management of special problems (indication and necessity of reoperation, optimal age) in patients with Down syndrome poses a great challenge for cardiologists and cardiac surgeons. Orv. Hetil., 2016, 157(40), 1601–1603.

scholarly journals Spectrum of congenital heart disease in neonates in a tertiary care centre of Northern India

2018 ◽  
Vol 5 (4) ◽  
pp. 1505
Author(s):  
Mahvish Qazi ◽  
Najmus Saqib
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Cleft Lip ◽  
Heart Diseases ◽  
Heart Defects ◽  
Tertiary Care ◽  
Mode Of Delivery ◽  
Tertiary Care Centre

Background: Congenital heart defects (CHDs) are an important cause of mortality and morbidity in children representing a major global health burden. Not much of Indian data is available particularly from this part of the country. So, authors conduct a retrospective study to know the spectrum of congenital heart disease in our set up.Methods: A retrospective hospital based study was carried out in the neonatal intensive care unit of SMGS Hospital, Jammu from January 2017 until December 2017 to see the spectrum of CHD.Results: There were 5552 neonates admitted during the study period out of which 68 were found to have CHD. The prevalence was 12.24 per 1000 admitted neonates. Out of 68 admitted neonates, 41were males (60.3 %) and 27 females (39.7%). Clinically Respiratory distress (51.47%) was the commonest presenting symptom followed by Cyanosis (16.18%), refusal of feed (13.23%) and murmer (10.3%).46 (67.65%) newborn had acyanotic and 22 (32.35%) cyanotic congenital heart lesions. Ventricular septal defect (27.94%) was the commonest acyanotic congenital heart defects whereas Tetrology of Fallot (14.70%) was the commonest cyanotic congenital heart diseases. Cleft lip and Cleft Palate was found in 12.5% followed by Down’s syndrome in 3.57% of cases of newborns with CHD. The mode of delivery was spontaneous in 64.71% followed by Elective LSCS were 23.53% and Emergency LSCS were 11.76%.Conclusions: There is an urgent need for government and non‑government organizations to establish well‑equipped cardiothoracic surgical centers across the country especially in Jammu to cater for children with CHDs.

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 Prevalence and profile of congenital heart disease and pulmonary hypertension in Down syndrome in a pediatric cardiology service

2014 ◽  
Vol 32 (2) ◽  
pp. 159-163 ◽  
Author(s):  
Felipe Alves Mourato ◽  
Lúcia Roberta R. Villachan ◽  
Sandra da Silva Mattos
Keyword(s):  
Congenital Heart Disease ◽  
Pulmonary Hypertension ◽  
Down Syndrome ◽  
Heart Disease ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Diseases ◽  
Heart Defects ◽  
Descriptive Analysis ◽  
Atrioventricular Septal Defect

OBJECTIVE:To determine the frequence and profile of congenital heart defects in Down syndrome patients referred to a pediatric cardiologic center, considering the age of referral, gender, type of heart disease diagnosed by transthoracic echocardiography and its association with pulmonary hypertension at the initial diagnosis.METHODS:Cross-sectional study with retrospective data collection of 138 patients with Down syndrome from a total of 17,873 records. Descriptive analysis of the data was performed, using Epi-Info version 7.RESULTS: Among the 138 patients with Down syndrome, females prevailed (56.1%) and 112 (81.2%) were diagnosed with congenital heart disease. The most common lesion was ostium secundum atrial septal defect, present in 51.8%, followed by atrioventricular septal defect, in 46.4%. Ventricular septal defects were present in 27.7%, while tetralogy of Fallot represented 6.3% of the cases. Other cardiac malformations corresponded to 12.5%. Pulmonary hypertension was associated with 37.5% of the heart diseases. Only 35.5% of the patients were referred before six months of age.CONCLUSIONS: The low percentage of referral until six months of age highlights the need for a better tracking of patients with Down syndrome in the context of congenital heart disease, due to the high frequency and progression of pulmonary hypertension.

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