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.

scholarly journals Down Syndrome and Congenital Heart Disease: Single centre, Prospective Study

2013 ◽  
Vol 2 (2) ◽  
pp. 96-101 ◽  
Author(s):  
Maniah Shrestha ◽  
U Shrestha
Keyword(s):  
Congenital Heart Disease ◽  
Pulmonary Hypertension ◽  
Down Syndrome ◽  
Heart Disease ◽  
Prospective Study ◽  
Congenital Heart ◽  
Septal Defect ◽  
Ductus Arteriosus ◽  
Atrioventricular Septal Defect ◽  
Children With Down Syndrome

Background: The objective of this study was to evaluate the children with down syndrome regarding the frequency and types of congenital heart disease and associated pulmonary hypertension. Method: A prospective study was carried out to all the children with down syndrome visited in pediatric outpatient department over the period of one year. Necessary data were recorded in preformed format. Results: Fifty children with down syndrome were evaluated. Forty (80%) had an associated congenital heart disease. The median age at diagnosis was 2 years (range = 4 days to 12 years). In 26 patients (65%), the cardiac lesion was isolated, while 14 patients (35%) had multiple defects. The most common single defect was ventricular septal defect (VSD), found in 9 of the 40 patients (22.5%), followed by atrioventricular septal defect (AVSD) in 15%, atrial septal defect (ASD) and patent ductus arteriosus (PDA) each in 10%. The most frequent concomitant malformation found co-existing with other congenital cardiac lesions was PDA (15%). Pulmonary hypertension was found in 21 of 40 patients (52.5%) and AVSD was most frequently associated with pulmonary hypertension. Conclusion: Congenital heart disease is very common in patient with down syndrome. VSD is the most common cardiac defect and AVSD is second to VSD. Patient with down syndrome with CHD frequently develop pulmonary hypertension at younger age hence early cardiac screening by echocardiography in these patients is crucial. Early diagnosis and management is the key to avoid irreversible hemodynamic consequences of the defect. Nepal Journal of Medical Sciences | Volume 02 | Number 02 | July-December 2013 | Page 96-101 DOI: http://dx.doi.org/10.3126/njms.v2i2.8944

scholarly journals The fitness cost of a congenital heart defect shapes its genetic architecture

2019 ◽  
Author(s):  
Ehiole Akhirome ◽  
Suk D. Regmi ◽  
Rachel A. Magnan ◽  
Nelson Ugwu ◽  
Yidan Qin ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart Defect ◽  
Genetic Architecture ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Atrioventricular Septal Defect ◽  
Fitness Cost ◽  
Heart Defect

ABSTRACTBackgroundIn newborns, severe congenital heart defects are rarer than mild ones. The reason why is unknown, but presumably related to a liability threshold that rises with the severity of a defect. Because the same genetic mutation can cause different defects, other variables may contribute to pushing an individual past a defect-specific liability threshold. We consider here how variables in the genetic architecture of a heart defect depend upon its fitness cost, as defined by the likelihood of survival to reproductive age in natural history studies.MethodsWe phenotyped ~10,000 Nkx2-5+/- newborn mice, a model of human congenital heart disease, from two inbred strain crosses. Genome-wide association analyses detected loci that modify the risk of an atrial septal defect, membranous or muscular ventricular septal defect, or atrioventricular septal defect. The number of loci, heritability and quantitative effects on risk of pairwise (G×GNkx) and higher-order (G×G×GNkx) epistasis between the loci and Nkx2-5 mutation were examined as a function of the fitness cost of a defect.ResultsNkx2-5+/- mice have pleiotropic heart defects; about 70% have normal hearts. The model recapitulates the epidemiological relationship between the severity and incidence of a heart defect. Neither the number of modifier loci nor heritability depends upon the severity of a defect, but G×GNkx and G×G×GNkx effects on risk do. Interestingly, G×G×GNkx effects are three times more likely to suppress risk when the genotypes at the first two loci are homozygous and from the same, rather than opposite strains in a cross. Syn- and anti-homozygous genotypes at G×G×GNkx interactions can have an especially large impact on the risk of an atrioventricular septal defect.ConclusionsGiven a modestly penetrant mutation, epistasis contributes more to the risk of severe than mild congenital heart defect. Conversely, genetic compatibility between interacting genes, as indicated by the protective effects of syn-homozygosity at G×G×GNkx interactions, plays a newfound role in the robustness of cardiac development. The experimental model offers practical insights into the nature of genetic risk in congenital heart disease. The results more fundamentally address a longstanding question regarding how mutational robustness could arise from natural selection.

scholarly journals Spectrum of congenital heart disease in Down syndrome at Faisalabad institute of cardiology: A retrospective study.

2020 ◽  
Vol 27 (03) ◽  
pp. 660-666
Author(s):  
Abdul Razzaq Mughal ◽  
Zaigham Rasool Khalid ◽  
Bisma Safdar ◽  
Safia Mughal
Keyword(s):  
Congenital Heart Disease ◽  
Down Syndrome ◽  
Heart Disease ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Pulmonary Atresia ◽  
Case Series ◽  
Cardiac Defects ◽  
Study Results

Congenital heart disease (CHD) is the most common structural anomaly in Down syndrome children with a variable spectrum all over the world including Pakistan. Objectives: To determine the spectrum of congenital heart disease in Down syndrome at Faisalabad Institute of cardiology (FIC) Faisalabad. Study Design: Retrospective descriptive case series. Setting: Pediatric Cardiology Department of FIC, Faisalabad. Period: From January 2013 to June 2019. Material & Methods: All Consecutive patients of Down syndrome who underwent diagnostic Echocardiography at FIC were enrolled. Those having confirmed diagnosis of CHD were included in the study. Results: Out of 321Down syndrome children77.6% (n=249) had CHD and were enrolled for study. Male were 53.8% (n=134) while 46.2% were female (n=115). Majority of patients were below one year of age (57%, n=142). Acyanotic CHD was seen in 83.1 % of patients (n=207) while 16.9 % (n=42) had cyanotic CHD. Isolated cardiac defects was seen in 73.1% of patients (n=182) while 26.9 % had mixed cardiac lesions (n=67). Ventricular septal defect (VSD) was the most common (22.1%, n=55) solitary lesion followed by 14.5% cases of atrioventricular septal defect (AVSD), PDA (13.3%) and ASD (8.8%). Tetralogy of Fallot (TOF) was seen in 8.4%, AS in 1.2% while TGA, Tricuspid atresia, pulmonary valve stenosis, coarctation and Ebstein anomaly (0.8% each) were less common solitary defects. In mixed cardiac defects VSD with PDA was the most common (n=13, 5.22%) followed by VSD with ASD (n=12, 4.81%) and VSD with RVOTO (n=8, 3.21%). In AVSD cases, RVOTO was present in 2.81% (n=7), PDA with ASD was seen in 2% cases (n=5) while CcTGA, DORV, Pulmonary atresia were least common. Pulmonary Hypertension was present in 54.2% cases of left to right shunt lesions. Conclusion: Incidence of CHD in referred cases of Down syndrome is high (77.6%) at our setup. Acyanotic congenital heart defects are more common. VSD is the most common acyanotic CHD followed by AVSD while TOF is the most common cyanotic CHD.

scholarly journals Pattern of congenital heart diseases among clinically diagnosed Down’s syndrome children

2015 ◽  
Vol 6 (1) ◽  
pp. 18-20
Author(s):  
Abu Sayed Munsi ◽  
Manzoor Hussain ◽  
Rezoana Rima ◽  
Robi Biswas ◽  
Salahuddin Mahmud ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Ductus Arteriosus ◽  
Atrioventricular Septal Defect ◽  
Female Ratio ◽  
Cardiology Department

Background : Down’s syndrome (DS) is the commonest genetic cause of malformation with congenital heart defects.Objectives : This study was conducted to evaluate the frequency of various congenital heart defects in children with clinically diagnosed Down’s syndrome in Dhaka Shishu Hospital.Material & Methods : This prospective study was conducted at Pediatric cardiology department of Dhaka Shishu Hospital from 1st February 2013 to 31st January 2014. Admitted Seventy four phenotypically Down’s syndrome patients were included in this study. After taking detailed history and physical examination, all these patients were subjected to Color Doppler echocardiography in addition to routine laboratory investigations.Results : Total 74 down’s Syndrome patients were admitted at cardiology department during the study period. Among them 35 (47.29%) were males and 39 (52.71%)were females with male to female ratio of 1:1.12. Atrioventricular septal defect was the commonest defect 15(20.27%), followed by Ventricular septal defect 12(16.21%), Patent ductus arteriosus 11(14.86%), Atrial septal defect 7(9.46%), Tetralogy of Fallots 3(4.05%), Pentology of Fallots 2(2.70%), Dextrocardia with D _ TGA 1(1.35%), Total anomalous pulmonary venous drainage 1(1.35%) but Multiple congenital heart disease were 22(29.72%) cases. Along with congenital heart disease 3(4.05%) patients had GIT abnormality, 4(5.4%) patient had congenital hypothyroidism and 3(4.05%) patients had Eye problem.Conclusion : Congenital heart defects are common in children with Down’s syndrome. The commonest one is Atrioventricular septal defect in our set-up.Northern International Medical College Journal Vol.6(1) 2014: 18-20

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 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 Pattern and frequency of pediatric congenital heart disease at the Cardiac Research Institute of Kabul Medical University, Afghanistan

2018 ◽  
Vol 58 (3) ◽  
pp. 106-9
Author(s):  
Abdul Muhib Sharifi
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Atrial Septal Defect ◽  
Tetralogy Of Fallot ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Cardiac Lesions ◽  
Medical University ◽  
Research Institute

Background Congenital heart disease (CHD) is the most common birth defect, with incidence of 0.7-0.9 live birth; it increases to 2-6% if first degree relative is affected. In Afghanistan majority of births take place at home and routine screening of neonates is not common, so true birth prevalence of CHD cannot be possibly calculated. Therefore, true prevalence of CHD in our population is unknown. Objective To verify the current pattern and frequency distribution of congenital heart disease (CHD) at the Cardiac Research Institute of Kabul Medical University. Methods  This retrospective study was conducted in children aged 0-14 years, who underwent echocardiography for possible congenital heart disease from January 2015 to December 2016. Results  Of 560 patients who underwent echocardiography, 392(70%) had cardiac lesions. Congenital cardiac lesions were found in 235 (60% of those with lesions) patients, while 157 (40%) patients had rheumatic heart disease. Patients with CHD were further subdivided into acyanotic and cyanotic groups. The majority of acyanotic group had isolated atrial septal defect (55%) while the most common lesion in the cyanotic group was Tetralogy of Fallot (42%). Conclusion Congenital heart defects are the most common heart disease in the pediatric population presenting at the Cardiac Research Institute of Kabul Medical University. Atrial septal defect (ASD) was the most common acyanotic defect, while Tetralogy of Fallot (ToF) is the most common cyanotic defect.

scholarly journals High prevalence of congenital heart disease at high altitudes in Tibet

2018 ◽  
Vol 26 (7) ◽  
pp. 756-759 ◽  
Author(s):  
Hua Chun ◽  
Yan Yue ◽  
Yibin Wang ◽  
Zhaxi Dawa ◽  
Pu Zhen ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Patent Ductus Arteriosus ◽  
High Altitude ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Diseases ◽  
Ductus Arteriosus ◽  
Congenital Heart Diseases ◽  
Patent Ductus

Background Previous small sample studies suggested that elevated altitudes might be associated with the incidence of cardiovascular diseases. However, it remains uncertain whether high altitudes (over 3000 m above sea level) are related to congenital heart disease. We therefore explored the prevalence of congenital heart disease in a large cohort of students in the world's largest prefecture-level city with the highest altitude. Methods This cross-sectional study included 84,302 student participants (boys 52.12%, girls 47.88%, with an average age of 10.62 ± 3.33 years). Data were extracted from the screening results among different altitude area schools in Nagqu from June 2016 to August 2017. Students were first screened by performing a physical examination consisting of cardiac auscultations and clinical manifestation screenings. An echocardiography was performed to confirm and identify the subtype of congenital heart disease. Results The prevalence of congenital heart disease among students in Nagqu, Tibet, was 5.21‰ (439 cases). The most common congenital heart disease type was patent ductus arteriosus, representing 66.3% of congenital heart diseases diagnosed in this study, followed by atrial septal defect and ventricular septal defect, representing 20.3% and 9.1% of congenital heart diseases, respectively. Students living in higher altitudes were significantly more prone to have congenital heart disease than students in locations with lower altitudes. The prevalence of congenital heart disease in girls was found to be higher than that of boys. Conclusions The correlation between congenital heart disease and increased altitude is noteworthy. This study's results are the first big data epidemiological investigation to confirm that high altitude is a significant environmental risk factor for congenital heart disease, especially patent ductus arteriosus. Furthermore, the results provide additional support to make a diagnostic and treatment plan to prevent congenital heart disease in high altitude areas.

scholarly journals Lung function test in children with left-to-right shunt congenital heart disease

2018 ◽  
Vol 58 (4) ◽  
pp. 165-9
Author(s):  
Carolina Kurniawan ◽  
Indah Kartika Murni ◽  
Sasmito Nugroho ◽  
Noormanto Noormanto ◽  
Roni Naning
Keyword(s):  
Congenital Heart Disease ◽  
Pulmonary Hypertension ◽  
Heart Disease ◽  
Lung Function ◽  
Congenital Heart ◽  
Vital Capacity ◽  
Septal Defect ◽  
Forced Expiratory Volume ◽  
Significant Difference ◽  
Restrictive Lung Function

Background Increased pulmonary blood flow may lead to abnormal lung function in children with left-to-right (L to R) shunt congenital heart disease. This condition has been linked to considerable mortality and morbidity, including reduced lung function. Objective To assess for lung function abnormality in children with L to R shunt congenital heart disease. Methods We conducted a cross-sectional study involving children aged 5-18 years and diagnosed with L to R shunt congenital heart disease at Dr. Sardjito Hospital from March to May 2017. Subjects underwent spirometry tests to measure forced expiratory volume-1 (FEV-1), forced vital capacity (FVC), and forced expiratory volume-1 (FEV-1)/forced vital capacity (FVC). Results Of 61 eligible subjects, 30 (49.2%) children had atrial septal defect (ASD), 25 (41%) children had ventricular septal defect (VSD), and 6 (9.8%) children had patent ductus arteriosus (PDA). Spirometry revealed lung function abnormalities in 37 (60.7%) children. Restrictive lung function was documented in 21/37 children, obstructive lung function in 11/37 children, and mixed pattern of lung function abnormality in 5/37 children. Pulmonary hypertension was found in 21 children. There was no significant difference in lung function among children with and without pulmonary hypertension (P=0.072). Conclusion Abnormal lung function is prevalent in 60.7% of children with L to R shunt congenital heart disease, of which restrictive lung function is the most common. There was no significant difference in lung function among children with and without pulmonary hypertension.

scholarly journals Predictor factors of pulmonary hypertension in children with left-to-right shunting in acyanotic congenital heart disease

2021 ◽  
Vol 61 (3) ◽  
pp. 119-24
Author(s):  
Weny Inrianto ◽  
Indah Kartika Murni ◽  
Ida Safitri
Keyword(s):  
Heart Failure ◽  
Congenital Heart Disease ◽  
Pulmonary Hypertension ◽  
Heart Disease ◽  
Iron Deficiency ◽  
Congenital Heart ◽  
Septal Defect ◽  
Deficiency Anemia ◽  
Acyanotic Congenital Heart Disease ◽  
Hypertension In Children

Background Left-to-right shunting in acyanotic congenital heart disease (CHD) is the most common type of defect in childhood heart disease. Limited access to specialist health services causes delays in CHD management. In limited resource settings, identification of factors that influence the occurrence of pulmonary hypertension is important in order to decide which patients should be prioritized for defect closure to prevent further complications. Objective To determine predictive factors of pulmonary hypertension after a left-to-right shunt CHD diagnosis. Methods This retrospective cohort study included children aged 1 month to 17 years with isolated atrial septal defect, or ventricular septal defect, or patent ductus arteriosus. Potential predictors studied were iron deficiency anemia, mitral regurgitation, pneumonia, and heart failure. Bivariate analysis was done with Chi-square test and multivariate analysis was done with Cox regression to determine the hazard ratio. Results Pulmonary hypertension occurred in 68 of 176 subjects. Iron deficiency anemia, mitral regurgitation, and pneumonia were not predictives of pulmonary hypertension. However, heart failure was a significant predictive factor for pulmonary hypertension, with a hazard ratio of 4.1 (95%CI 2.2 to 7.5; P=0.001). Conclusions Heart failure is a predictive factor of pulmonary hypertension in children with left-to-right shunting in acyanotic CHD.

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