scholarly journals DOWN’S SYNDROME;

2013 ◽  
Vol 20 (06) ◽  
pp. 898-903
Author(s):  
SHAKIL AHMAD ◽  
IMRAN SARWAR ◽  
NISAR KHAN SAJID
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Maternal Age ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Septal Defects ◽  
Age At Birth

Objective: To evaluate the various types of congenital heart defects and to determine their frequency in children withDown’s syndrome. Study Design: Descriptive study. Place and duration of study: Department of Pediatrics, Independent UniversityHospital Faisal Abad Pakistan, from January 2010 to December 2012. Methodology: 93 children between the ages of day 1 to 12 years,diagnosed clinically as Down’s syndrome based on its characteristic phenotypic appearance, were included in the study. A detailedhistory, physical examination and evaluation of cardiovascular status (including Chest x-ray, Electrocardiogram and Echocardiography)were performed in each Down’s syndrome case. Variables of interest included age, sex, maternal age at birth and type and frequency ofcongenital heart disease. Results: Congenital heart disease was present in 48 (51.62%) children out of 93 children with Down’ssyndrome. Congenital cardiac defects in order of predominant type and their frequency included Ventricular septal defect (29, 60.4%),Atrioventricular septal defect (14, 29.1%), Atrial septal defect (2, 4.1%), Patent ductus arteriosis (2, 4.1%) and Tetralogy of Fallots (1,2%). 68 (73.2%) Down’s syndrome children (n=93) presented during their first year of life with mean age of 7±4 months. Malepredominance was observed in both with and without congenital heart disease Down’s syndrome children (male: female 1.7:1 and 2.5:1respectively). Mean maternal age at birth was 27±2 years. Conclusions: Congenital heart disease (CHD) is frequently associated withDown’s syndrome (DS). Ventricular septal defects and atrioventricular septal defects are the most common forms of CHDs in DS childrenof our region. Their earlier presentation (in infancy) and significant contribution to the morbidity and mortality of DS children warrantsearly diagnosis of DS and mandatory screening of all DS children for associated CHDs.

Prevalence of Congenital Heart Disease among Children in Khorramabad (West of Iran)

2020 ◽  
Vol 20 ◽  
Author(s):  
Alireza Nezami ◽  
Ghobad Heidari ◽  
Fariba Tarhani ◽  
Masoumeh Kariminia
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Signs And Symptoms ◽  
Cross Sectional Study ◽  
Cross Sectional ◽  
Cardiothoracic Ratio ◽  
Septal Defects

Aims:: Congenital heart disease is among the most common congenital anomalies in pediatrics. The aim of this study was to evaluate the prevalence of congenital heart disease in children in Khorramabad, Iran. Methods:: This is a descriptive-cross sectional study where all the children admitted to Shahid Madani Hospital who were diagnosed with congenital heart disease by echocardiography were enrolled. Patient information was collected by means of a questionnaire. Of 1600 children who underwent cardiac counseling, 9.75% presented congenital heart disease. These were most prevalent among the children of 0-28 days of the age (14.7%) and least in children aged 1 month-1year. According to this study, atrial (20.3%) and ventricular septal defect (10.5%) were the most common heart defects, respectively. Among signs and symptoms of cardiac disease, 49.1% of children had cyanosis, 89.7% with increased CT (cardiothoracic)-ratio, and 82.7% of had heart murmur. Congenital heart disease was more prevalent in male infants (58%) and 6.6% patients had heart failure and 1.4% had other congenital conditions, such as Down syndrome. Results:: According to our findings, atrial and ventricular septal defects are the most common congenital heart anomalies, respectively, in pediatric patients in Khorramabad.

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's Syndrome with Congenital Heart Disease: Analysis of Cases Over Two Years in a Non-Invasive Laboratory of a Tertiary Hospital

1970 ◽  
Vol 2 (2) ◽  
pp. 184-187
Author(s):  
NN Fatema
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Doppler Echocardiography ◽  
Congenital Heart ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Tertiary Hospital ◽  
Study Group ◽  
Non Invasive ◽  
Study Results

Background: Trisomy 21 or Down's Syndrome is the most frequent chromosomal aberration affecting live birth infants with an incidence of 1 in 660 live births. This syndrome is often associated with congenital cardiac lesions, Incidence of which is 40-60 percent. This study was conducted to see the frequency of Down’s syndrome cases and pattern of heart diseases they have in one of the busy non-invasive pediatric cardiac laboratory of the country. Methods: It was a retrospective study conducted in the non-invasive pediatric cardiac laboratory and pediatric cardiac outpatient clinic of a tertiary hospital over a period of two years (November 2007 to October 2009). The entire patients who had Down's Syndrome and had Doppler echocardiography were included in the study. Results: Out of total six thousand and fifty echocardiography, Down's Syndrome case was 205 (3.38%). Out of 205 cases, 185 cases were followed up in pediatric cardiac out patient clinic. Twenty cases had not reported in the out patient clinic. Seventeen of those patients had normal cardiac anatomy in Doppler echocardiography. Male were 43.90% and female were 56.09% amongst study group. Most of the patients are young infant (47.32%). Only 2.44% are in more than 10 years age group. Murmur was audible in 86.49% cases in study group and developmental delay was present in 100% of the cases. Doppler Echocardiography was found as most sensitive and specific investigation for detecting congenital heart disease. A-V canal defect was the commonest association (15.60%). Congenital heart disease was not detected in 8.29% cases. Surgical treatment was advised in 52.19% cases, Device closure was advised in 16.59% cases, medical management was advised in 21.46% cases. Conclusion: Down's syndrome is a very common chromosomal anomaly in our country. Incidence of this syndrome is increasing as number of working women, late marriage and elderly mother increasing. So, multidisciplinary approach for managing this disease should be adopted immediately. Keywords: Down's syndrome; Congenital heart disease. DOI: 10.3329/cardio.v2i2.6637Cardiovasc. j. 2010; 2(2) : 184-187

scholarly journals Prevalence of Congenital Heart Disease and Pulmonary Hypertension in Down's Syndrome: An Echocardiographic Study

2015 ◽  
Vol 23 (2) ◽  
pp. 72 ◽  
Author(s):  
Nilda Espinola-Zavaleta ◽  
María Elena Soto ◽  
Angel Romero-Gonzalez ◽  
Lidia del Carmen Gómez-Puente ◽  
Luis Muñoz-Castellanos ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Pulmonary Hypertension ◽  
Heart Disease ◽  
Congenital Heart ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Echocardiographic Study

Atrial septal defects (ASDs)

2011 ◽  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Atrial Septal Defect ◽  
Coronary Sinus ◽  
Patent Foramen Ovale ◽  
Congenital Heart ◽  
Septal Defect ◽  
Foramen Ovale ◽  
Septal Defects ◽  
Different Types

Introduction 94Ostium secundum ASD 96Ostium primum ASD 100Sinus venosus ASD 100Coronary sinus defect 102Patent foramen ovale 104Interatrial communications account for ~10% of congenital heart disease. Different types of atrial septal defect (ASD) are illustrated in Fig. 8.1.•...

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 Supraglottic foreign body in a woman with Down's syndrome and congenital heart disease

Medicine ◽  
2021 ◽  
Vol 100 (14) ◽  
pp. e25455
Author(s):  
Yuchao Liu ◽  
Zijia Liu ◽  
Yang Zha ◽  
Xuerong Yu
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Foreign Body ◽  
Congenital Heart ◽  
Down's Syndrome ◽  
Down’S Syndrome

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.

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