Nutritional Status and Pulmonary Hypertension in Children with Down Syndrome Presenting with Congenital Heart Disease: Retrospective Study (original) (raw)
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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.
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.
European Journal of Pediatrics, 2010
The aim of this study was to assess the prevalence of congenital heart defects (CHDs) and persistent pulmonary hypertension of the neonate (PPHN) in children with Down syndrome (DS) and to assess its impact on neonatal factors. It was a prospective study of a birth cohort of children with DS born between 2003 and 2006 registered by the Dutch Paediatric Surveillance Unit (DPSU). A CHD occurred in 43% of 482 children with trisomy 21. Atrioventricular septal defect was found in 54%, ventricular septal defect in 33.3% and patent ductus arteriosus in 5.8%. The incidence of PPHN in DS was 5.2%, which is significantly higher than the general population (p<0.001). The reported mortality in newborns with DS was overall 3.3% and was still significant higher in children with a CHD versus no CHD (5.8% versus 1.5%) (p=0.008). The presence of CHD in children with DS had no influence on their birth weight, mean gestational age and Apgar score. In neonates with DS, we found not only a 43% prevalence of CHD, but also a high incidence of PPHN at 5.2%. Early recognition of the cardiac condition of neonates with DS seems justified.
Nutritional Assessment of Children and Teenagers with Down Syndrome and Congenital Cardiopathy
Revista chilena de nutrición, 2012
The aim of this study was to analyze the nutritional status of patients with Down Syndrome (DS) and congenital heart defect (CHD). A transversal study which assessed the nutritional profile of DS and CHD patients between 0 and 18 years of age was done. Weight and stature, both at birth and current were considered. A total of 98 patients, 56% female were analyzed. Prevalence of low weight, overweight and low stature at the current anthropometric data (CAD) was 30%, 22% and 17%, respectively. There was a statistically significant difference between malnutrition at birth and the CAD (p<0.01). The current weight/age (W/A) ratio showed significant increase as compared to birth W/A (p=<0.05). In addition, there was also stature recovery based on stature/age (S/A) ratio (p<0,001). In conclusion, at birth, these patients present stature and weight deficit but as age advances there is a stature improvement; however it is not properly accompanied by the weight, since there is a tendency towards overweight in puberty.
Physical Growth and Echocardiographic Findings in Children with Down Syndrome
Paediatrica Indonesiana
We compared the physical growth, nutritional status, and echocardiographic findings in children aged 3-7 years with Down syndrome who had no congenital heart disease. Thirty such patients who consecutively referred to the Division of Cardiology, Department of Child Health, Medical School, University of Indonesia/Cipto Mangunkusumo Hospital, Jakarta, were compared with sex and age matched controls consisted of normal children attending the Department. It appears that growth and nutritional status of children with Down syndrome tended to be retarded when compared to those of the controls. However, no significant difference were found on the M-mode echocardiographic values of the left ventricle, except that the left ventricular posterior wall thickness in study subjects was more that that of the controls. We concluded that although the pulmonary architecture of patients with Down syndrome is thought to be less developed than that of normal children, it does not affect the left ventricu...
Clinical Features and Cardiac Anomalies of Children with Down Syndrome. A Literature Report
European journal of medical and health research, 2024
Background: Clinical diagnosis of Down syndrome is based on the characteristic features and associated malformations. Nonetheless, there is significant individual diversity in the clinical presentation. Not every physical characteristic may be present, particularly in infants. At the same, congenital heart abnormalities (CHD) remain a major predictor of death in children with Down syndrome (DS) despite improvements in surgical therapy for these conditions. The effects of DS vary from person to person, with some people having a significant impact while others are well and capable of living unassisted as adults. So, this study is done to understand the pattern of clinical features and cardiac anomalies in various research reports. Aim: This scoping review aims to describe the frequency and distribution of clinical features and cardiac anomalies in children with Down syndrome and to consider the clinical implications of this knowledge. Methods: Medline, CINHAL, and PubMed databases were searched electronically to identify pertinent articles from 2000 to 2023. Children with Down syndrome and cardiac comorbidities aged 18 years or younger met the inclusion criteria. Articles that were not peer-reviewed or written in English were disqualified at the title or abstract level. Results: Literature revealed that the common physical and dysmorphic features found in individuals with Down syndrome include flat facial profile, epicanthal folds, upward slanting eyes, hypotonia, small ears, short neck, protruding tongue, small hands and feet, brushfield spots, sandal gap, and short stature. It's important to note that while these physical features are commonly associated with Down syndrome, not all individuals will exhibit every characteristic, and the severity can vary greatly among individuals. A high prevalence of CHD was reported in DS children from a group where consanguinity was relatively frequent. The prevalence of congenital heart disease in children with Down syndrome is the highest reported, especially when the researchers have used diagnostic ultrasound. VSD and AVSD, followed by persistent ductus arteriosus, and tetralogy of Fallot are the most
Pulmonary Hypertension Following Cardiac Surgery in Children with Down Syndrome: A Review
International Journal of Cardiovascular and Thoracic Surgery
Pulmonary hypertension is a known complication in children with congenital heart lesions especially those with left-to-right shunts. Children with Down syndrome are known to have certain types of congenital heart lesions like atrioventricular septal defect, ventricular septal defect, patent ductus arteriosus etc. These lesions can cause pulmonary hypertension if left untreated in any child. In those with Down syndrome, pulmonary hypertension is said to be worse. Several factors have been identified. These factors are upper airway obstruction that is common in all children with this syndrome, abnormality in their pulmonary vascular bed, lower levels of nitric oxide production which is a known vasodilator, abnormalities in their immune system which predisposes them to respiratory tract infection, gastroesophageal reflux disease and recently pulmonary hemosiderosis has been reported. Therefore, children with Down syndrome being prepared for cardiac surgery should be thoroughly evaluated and if possible measures should be taken to minimize untoward effects of these factors.
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...
Review Echocardiography in children with Down syndrome
Congenital heart disease is a common problem in children with Down syndrome (DS). Echocardiography plays an important role in the detection of both structural and functional abnormalities in this group of patients. Fetal echocardiography can help in the early recognition of DS by detecting soft markers of DS, but its main role is to define the exact nature of the suspected cardiac problem in the fetus. Postnatal echocardiography is mandatory in the first month of life for all neonates with DS. It is also indicated before any cardiac surgery and for serial follow-up after cardiac surgery. In this article, we discuss the types and mechanism of cardiac abnormalities in DS children and the role of both fetal and postnatal echocardiography in the detection of these abnormalities.
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