Prevalence of congenital heart defects and persistent pulmonary hypertension of the neonate with Down syndrome (original) (raw)
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Medical Journal Armed Forces India, 2013
Background: Down syndrome (DS) is a common chromosomal abnormality associated with congenital heart disease (CHD). These cardiac abnormalities are known to be associated with pulmonary arterial hypertension (PAH). Methods: The aim of this study was to assess the prevalence of PAH in DS children with CHD and to compare it with PAH prevalence in non-syndromic children with CHD. It was a cross-sectional study including all children presenting to Cardiology Department at a tertiary care center between Jan 2007 and Dec 2010. Results: Thirty-five DS children with CHD were compared with 38 non-syndromic children with CHD. Atrioventricular septal defect (AVSD, 13/35) was the commonest CHD among DS children while isolated VSD (26/38) accounted for maximum cases in non-syndromic CHD. PAH was more prevalent among DS children with CHD (18/42) than among the control group (7/38, p ¼ 0.038). In addition, 14/19 patients with AVSD in the entire cohort developed PAH. Conclusion: DS children with CHD have a higher predisposition to develop PAH, and the likelihood is highest with underlying AVSD.
Revista Paulista de Pediatria, 2014
Prevalência e perfil das cardiopatias congênitas e hipertensão pulmonar na síndrome de Down em serviço de cardiologia pediátrica Prevalencia y perfil de las cardiopatías congénitas e hipertensión pulmonar en la síndrome de Down en servicio de cardiología pediátrica ABSTRACT 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.
Increased Incidence of Idiopathic Persistent Pulmonary Hypertension in Down Syndrome Neonates
Pediatric Cardiology, 2007
Down syndrome (DS) patients have an increased risk of developing pulmonary hypertension later in life compared to age-matched controls. The goal of this study was to determine if the incidence of persistent pulmonary hypertension of the newborn (PPHN) is also higher in neonatal DS patients compared to the general population. A retrospective chart review of DS patients admitted during a 3-year period to the neonatal intensive care unit was performed. DS patients with meconium aspiration syndrome, pulmonary infections, or pulmonary space-occupying lesions were excluded. DS patients were divided into four groups based on treatment and consisted of no intervention (A), supplemental oxygen (B,) mechanical ventilation use (C), and inhaled nitric oxide administration (D). Group D was defined as having PPHN. z test of the difference between sample and known population, chi-square, t-test, and analysis of variance with Tukey adjusted post hoc test were used for analysis. p < 0.05 was considered significant. A total of 58 patients met inclusion criteria. Twenty-four DS patients were in group A, 17 in group B, 10 in group C, and 7 in group D. There was no difference between the four groups for gender (males: 10, 5, 5, and 5, respectively), gestational age (36.4, 38.2, 36.4, and 36.4 weeks, respectively), weight (2.8, 3.0, 2.4, and 3.0 kg, respectively), or the presence of congenital heart defects (17, 10, 6, and 1, respectively). The estimated number of DS patients born in the state of Ohio during this period was 598; therefore, the incidence of PPHN in DS was 1.2%. The reported incidence of PPHN is 0.1%. The Reported incidence of PPHN was significantly lower versus the incidence of PPHN in DS (z = 2.7, p = 0.007). It was concluded that DS patients have an increased incidence of PPHN compared to historical controls regardless of baseline demographics.
Annals of Saudi Medicine, 2017
BACKGROUND: The pattern and risk factors for congenital heart diseases (CHD) in children with Down syndrome (DS) vary over time. OBJECTIVES: To update knowledge of the prevalence, types, trends and associated factors for CHD in children with DS in the Egyptian Delta. DESIGN: A retrospective hospital record-based descriptive study. SETTING: A tertiary care center in Mansoura, Egypt during a period of 14 years from 2003 up to 2016. PATIENTS AND METHODS: We studied children with genetically proven DS. Relevant sociodemographic factors, medical history, clinical examination, karyotype and echocardiographic data were statistically analyzed. MAIN OUTCOME MEASURES: Prevalence, types and risk factors of CHD in DS. RESULTS: The prevalence of overall, isolated and multiple CHD in 1720 children with DS were 36.9%, 29% and 8%, respectively. Isolated defects accounted for 78.4% of all CHD. Ventricular septal defect, atrioventricular septal defect and atrial septal defect were the most frequent isolated defects. There was a downward trend in the prevalence of overall CHD (from 56.2% to 25.0%) and isolated CHD (from 56.2% to 19.8%). The logistic regression model predicted 65.7% of CHD and revealed that passive maternal smoking, lack of folic acid/multivitamin supplementation and parental consanguinity were the independent predictors of CHD in children with DS with adjusted odds ratios of 1.9, 1.8 and 1.9, respectively. CONCLUSION: More than one-third of children with DS have CHD with ventricular septal defect, which is the most common. Avoidance of passive maternal smoking and consanguineous marriage together with maternal folic acid supplementation could contribute to further reduction of CHD in children with DS. LIMITATIONS: Single-center study and retrospective. atrial septal defect (ASD), ventricular septal defect (VSD), and tetralogy of Fallot (TOF) with AVSD the most common in the Western literature. 9 The prevalence of CHD in children with DS has been underestimated, but the reported frequency has increased by about 50% in the past three decades. 10 This increase in reported frequency is attributed to improvement in tools of diagnosis and increased awareness of health care providers. 11 The etiology of CHD is multifactorial with important contributions from both environmental and genetic factors. 12 Clinical, epidemiological and embryologi
Journal of Advances in Medicine and Medical Research, 2020
Introduction: Children with Down syndrome are predisposed to having congenital heart defect. Objectives: This study is aimed to describe the clinical correlates, nutritional status and pulmonary hypertension in children with Down syndrome who presented with congenital heart disease. Patients and Methods: A retrospective study of children with Down syndrome who presented with congenital heart disease from 2016 to 2020 was carried out. Nutritional status was assessed with WHO Anthro software while pulmonary hypertension was assessed with standard procedures. Results: Out of 758 echocardiography done over the period of 5 years for children suspected of having cardiac disease, three hundred and eight one had confirmed congenital heart disease of which twenty-eight of them had Down syndrome 7.34% (28/381). Ten 10/28 (35.7%) of them had pulmonary hypertension. This is commonly noted among infants than older ages. Among 28 children with Down syndrome, twenty-three had complete information...
European Journal of Pediatrics, 2019
Limited data are available on the survival of patients with Down syndrome and congenital heart disease (CHD) from middle-income countries. This retrospective cohort study was performed to determine the trends in the prevalence and survival of such patients born from January 2006 to December 2015 in Malaysia. Among 754 patients with Down syndrome, 414 (55%) had CHD, and no significant trend was observed during the 10 years. Of these 414 patients, 30% had lesions that closed spontaneously, 35% underwent surgery/intervention, 9% died before surgery/intervention, and 10% were treated with comfort care. The overall mortality rate was 23%, the median age at death was 7.6 months, and no significant changes occurred over time. The early and late post-surgery/intervention mortality rates were 0.7% and 9.0%, respectively. Most deaths were of non-cardiac causes. The overall 1-, 5-, and 10-year survival rates were 85.5%, 74.6%, and 72.9%, respectively. Patients with severe lesions, persistent pulmonary hypertension of the newborn, atrioventricular septal defect, and pulmonary hypertension had low survival at 1 year of age. Conclusion: The prevalence of CHD in patients with Down syndrome is similar between Malaysia and high-income countries. The lower survival rate is attributed to limited expertise and resources which limit timely surgery. What is Known: • The survival of patients with Down syndrome with congenital heart disease (CHD) has improved in high-income countries. However, little is known about the survival of patients with Down syndrome with CHD from middle-income countries. • In the Caucasian population, atrioventricular septal defect is the most common type of CHD associated with Down syndrome. What is New: • In middle-income countries, the prevalence of CHD is the same as in high-income countries, but with a lower survival rate. • In the Asian population, ventricular septal defect is the most common type of CHD in patients with Down syndrome.
Clinical Characteristics of Down Syndrome with Congenital Heart Disease
eJournal Kedokteran Indonesia
Down syndrome (DS) or trisomy 21, causes overexpression of genes in most affected organs, including congenital heart disease (CHD). CHD is found in 40-60% of people with DS, with a high mortality rate in early life.Clinical signs and symptoms often found are essential indicators of early diagnosis of CHD. This study aimed todetermine the clinical characteristics of DS children with and without CHD. This study was a retrospective study.The study was conducted on August until October 2019. We took data from the inpatient and outpatient medicalrecords database for the years 2017-2019 in Dr. Kariadi Hospital, Semarang, Indonesia. Some informationincludes clinical signs and symptoms, nutritional status, comorbidities, and frequency of hospitalization in amonth were collected. A total of 66 patients were diagnosed with DS, consisting of 44 DS patients with CHDand 22 DS patients without CHD. There were no differences in nutritional status, interrupted breastfeeding, chestretraction, respi...
DOWN SYNDROME AND CONGENITAL HEART PATHY: A LITERATURE REVIEW (Atena Editora)
DOWN SYNDROME AND CONGENITAL HEART PATHY: A LITERATURE REVIEW (Atena Editora), 2024
The respective study is a literary review of articles, in which the main objective is to discuss knowledge about the correlation of Down Syndrome and Congenital Heart Disease. Both Down Syndrome and Congenital Heart Disease are prevalent diseases among children born and capable of generating countless consequences for these infants. The diagnosis is made clinically through the phenotypes of each child. If there is any doubt during the diagnosis, referral to a geneticist is made. The prognosis improves with each passing year, as advances in medicine allow for better treatments and better equipment capable of promoting better therapy for these children. Thus, aiming for greater knowledge on the topic, this study becomes effective.
Pattern of congenital heart diseases among clinically diagnosed Down’s syndrome children
Northern International Medical College Journal, 2015
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 1 st February 2013 to 31 st 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 setup .