scholarly journals Early Prenatal Diagnosis of an Extremely Rare Association of Down Syndrome and Transposition of the Great Vessels

2019 ◽  
Vol 70 (7) ◽  
pp. 2574-2578
Author(s):  
Cristina Crenguta Albu ◽  
Dinu-Florin Albu ◽  
Stefan-Dimitrie Albu ◽  
Anca Patrascu ◽  
Ana-Roxana Musat ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Down Syndrome ◽  
Heart Disease ◽  
Prenatal Diagnosis ◽  
Trisomy 21 ◽  
Congenital Heart ◽  
Heart Defects ◽  
Live Births ◽  
Cardiac Malformations ◽  
Great Vessels

Every year, an estimated 7.9 million infants (6% of worldwide births) are born with serious�birth defects [1].�Congenital cardiovascular defects make up one of the largest groups of severe congenital malformations [2].The incidence of congenital heart defects in different studies varies from about 4/1,000 to 50/1,000 live births [3].� Congenital heart disease is frequently described in patients with Down syndrome and is the main cause of death in this population during the first two years of life [4].�Trisomy 21 with cardiovascular malformations have a maternal age-adjusted regional prevalence of 4.33/10,000 for the white population and 3.70/10,000 for the nonwhite population [5].�Prenatal diagnosis of�congenital�heart disease is important for proper perinatal and neonatal management, as congenital cardiac malformations occurs in approximately eight of 1000 live births [6]. We present an extremely rare case of early prenatal diagnosis and management of a fetus with trisomy 21 associated with the transposition of the great vessels, one of the most mysterious congenital cardiac malformations.

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 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.

Regional differnces in birth prevalence of congenital heart disease in Malta

1999 ◽  
Vol 9 (2) ◽  
pp. 150-154 ◽  
Author(s):  
Victor Grech ◽  
Hugo Agius-Muscat ◽  
Charles Savona-Ventura ◽  
Joe Pace
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Odds Ratio ◽  
Congenital Heart ◽  
The South ◽  
Birth Prevalence ◽  
North West ◽  
Live Births ◽  
Cardiac Malformations ◽  
Significant Difference

AbstractAimRecent studies have shown a correlation between environmental pollutants and increased risk of selected congenital malformations. The South-East area of the Island of Malta is much more industrialised than the more rural North-West area. The aim of this study was to test the null hypothesis that there are no regional differences in Malta in the prevalence at birth of congenital cardiac malformations. Methods: Live born infants with congenital cardiac malformations born between 1990 and 1994 were allocated to 10 areas, and thence to 2 regions of 5 areas each, so as to constitute North-West and South-East Malta. Official publications gave population totals and growth rates. Those infants with congenital cardiac malformations were then compared between the different regions using χ2and the Mann-Whitney U test.ResultsThe overall prevalence of congenital heart disease at birth was 8.8/1000 live births. The birth prevalence for the South-East region (10.1/1000 LB – 95% CI 8.4–12.3/1000 live births) was significantly higher than for the North-West (7.4/1000 live births – 95% CI 6.0–9.0/1000 live births) – p=0.03, Odds ratio 1.38 (95% CI 1.05–2.61). The Mann-Whitney U test showed a significant difference in the distribution amongst the 10 defined areas (p=0.016). The Central-East area had the highest prevalence of cardiac malformations in the entire Island – p=0.02, Odds ratio 1.70 (95% CI 1.10–2.61). Demography showed an efflux of individuals from the South-East of Malta.ConclusionThe higher prevalence of congenital heart disease noted at birth in South-East Malta is unlikely to be due to genetic factors, as these would have migrated North-West along with the population movement. An environmental factor, therefore, seems more likely to be responsible for the increased predisposition to congenital heart disease in the South-East of Malta.

scholarly journals The incidence of congenital heart defects in the world regarding the severity of the defect

2016 ◽  
Vol 73 (2) ◽  
pp. 159-164 ◽  
Author(s):  
Vesna Miranovic
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Methodological Approach ◽  
Live Births ◽  
Significant Difference ◽  
The World

Bacground/Aim. Congenital heart defects (CHDs) are structural or functional abnormalities of the heart present at birth even if they are detected much later. Their importance lies in the fact that, depending on the severity, they change the quality of life, and may be life threating. In addition, we should not ignore the high costs of treating people with congenital heart disease. The aim of this study was to analyze the incidence of congenital heart disease in relation to the severity in the world based on the available literature. Methods. All the available literature on the incidence of CHD cases regarding the severity of CHD published from 1955 to 2012 was analyzed. The researcher was able to read the titles and abstracts of 128 papers on the subject. Due to methodological inconsistency, 117 of the papers were rejected. Based on the criteria of reliability, availability and comparability, our analysis included 11 studies testing CHD incidence regarding the severity of the defect conducted all over the world. The Yates' ?2-test was used to compare the observed incidences. Results. The frequency of severe congenital heart defects, ranged from 0.414 to 2.3/1,000 live births, the incidence of moderate congenital heart defects from 0.43 to 2.6/1,000 live births while in the group of minor congenital heart defects the incidence ranged from 0.99 to 10.3/1000 live births. There were no statistically significant differences in the incidence of mild, moderate and severe CHDs. Conclusion. The results obtained studying of the available data suggest that no statistically significant difference in the incidence of mild, moderate and severe congenital heart defects. A universal methodological approach to the incidence of CHD is essential.

CONGESTIVE HEART FAILURE

PEDIATRICS ◽  
1956 ◽  
Vol 18 (3) ◽  
pp. 491-500 ◽  
Author(s):  
John D. Keith
Keyword(s):  
Heart Failure ◽  
Congestive Heart Failure ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Heart Muscle ◽  
Congenital Heart ◽  
Heart Defects ◽  
Age At Onset ◽  
Pericardial Disease ◽  
Great Vessels

HEART failure is associated with an inability of the heart to empty itself adequately, with the result that there is a high venous filling pressure and a decrease in the effective work done by the heart muscle. There are several factors that, if sufficiently severe, will produce congestive heart failure in either infancy or childhood. These include valvular obstruction or insufficiency; mechanical obstruction of the heart as a whole, as in pericardial disease; the physical effects of large intracardiac shunts which increase the load on one or both ventricles; the presence of raised pressure in the pulmonary or systemic circulation; inflammatory reactions in the heart muscle or oxygen lack; and, finally, certain metabolic disturbances, such as hyperthyroidism or hypothyroidism. One or more of these factors may be operating in the same child, as in rheumatic fever where myocarditis is associated with valvular insufficiency, or in congenital heart disease with pulmonary stenosis and patent foramen ovale, where the right ventricle has a high pressure to maintain and is at the same time being offered cyanotic blood from the coronaries. PATIENT MATERIAL In analyzing 1,580 cases of congenital heart disease at the Hospital for Sick Children, Toronto, 20 per cent were found to have had failure at some time. In 90 per cent of these failure occurred in the first year of life. A list of the various causes of heart failure in the pediatric age group in order of frequency follows. [see table in source pdf] In certain types of heart defects failure develops in characteristic age groups. For example, during the first week of life the most common cause of heart failure is aortic atresia. From 1 week to 1 month, coarctation of the aorta leads. From 1 to 2 months, transposition of the great vessels predominates. From 2 to 3 months, endocardial fibroelastosis is the chief cause of heart failure, with transportation of the great vessels second to it. The actual incidence of type of heart defect in relation to age at onset of heart failure is as follows.

Introduction

ESC CardioMed ◽  
2018 ◽  
pp. 737-739
Author(s):  
John Deanfield
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Surgical Care ◽  
Cardiac Malformation ◽  
Surgical Experience ◽  
Live Births ◽  
Cardiac Malformations ◽  
Congenital Cardiac Malformation

A congenital cardiac malformation complicates approximately 8 per 1000 live births. The treatment of such patients in childhood is now a mature speciality, with over 70 years of surgical experience. This has transformed the outlook for even the most complex of congenital cardiac malformations and more than 90% of all children born with congenital heart disease will reach adulthood. As a result, there are now more adults than children with congenital heart disease and their number will increase greatly over the coming years, with further improvements in medical and surgical care.

scholarly journals Comorbidities in children with Down syndrome: experience in a tertiary care hospital of Bangladesh

2021 ◽  
Vol 11 (3) ◽  
pp. 191-196
Author(s):  
Fahmida Zabeen ◽  
Fauzia Mohsin ◽  
Eva Jesmin ◽  
Sharmin Mahbuba ◽  
M Quamrul Hassan
Keyword(s):  
Congenital Heart Disease ◽  
Down Syndrome ◽  
Heart Disease ◽  
Trisomy 21 ◽  
Congenital Heart ◽  
Thyroid Dysfunction ◽  
Septal Defect ◽  
Tertiary Care ◽  
Care Hospital ◽  
Children With Down Syndrome

Background: Down syndrome or trisomy 21 is one of the most common chromosomal disorders with moderate intellectual disability. In addition to mental retardation, this syndrome is associated with different congenital anomalies and characteristic dysmorphic features. Affected individuals are more susceptible to congenital heart disease and digestive anomalies, pulmonary complications, immune and endocrine system disorders. While several international studies have shown association of co-morbidities with trisomy 21, there is insufficient data available in Bangladesh.The present study aimed to evaluate the associated co-morbidities in children with Down syndrome. Methods: A cross-sectional study was conducted among pediatric cases with Down syndrome who attended the endocrine outpatient department (OPD) of BIRDEM General Hospital from June 2006 to December 2016. The cases were diagnosed either by Karyotyping or by characteristic phenotypes.The clinical and laboratory data of the patients were collected from outpatient history records for analysis. Results: There were total 42 children with Down syndrome, with mean age 4.2 years at assessment and female predominance (1.47:1). Thyroid dysfunction was the most common (69%) followed by congenital heart disease (57%). Among the thyroid disorders, acquired hypothyroidism was found in 55% cases, congenital hypothyroidism in 41% cases and only one had hyperthyroidism. Isolated patent ductus arteriosus (PDA) and atrial septal defect (ASD) comprised the commonest single congenital heart disease found in 53% and combined atrioventricular septal defect was the commonest among complex congenital cardiac defect observed in our study. Both thyroid dysfunction and congenital heart disease were found more in female children with Down syndrome than their male counterpart and it was found statistically significant. Fifty percent of our Down syndrome cases were referred from other healthcare centers to address developmental delay. Conclusion: Hypothyroidism and congenital heart disease are frequently associated in Down syndrome children in Bangladesh. This calls for developing awareness among health professionals to diagnose comorbidities at an early stage and to form recommendations for long term follow up. BIRDEM Med J 2021; 11(3): 191-196

scholarly journals Congenital Heart Disease in Down Syndrome

1993 ◽  
Vol 14 (12) ◽  
pp. 488-494
Keyword(s):  
Congenital Heart Disease ◽  
Down Syndrome ◽  
Heart Disease ◽  
Congenital Heart ◽  
Chromosomal Abnormalities ◽  
Heart Defects ◽  
Endocardial Cushion ◽  
Ventricular Septal Defects ◽  
Septal Defects ◽  
Endocardial Cushion Defect

Trisomy 21, Down syndrome, is one of a number of chromosomal abnormalities associated with congenital heart disease. Recent studies indicate that approximately 5% of all congenital heart defects are associated with some form of chromosomal abnormality, the majority of which are Down syndrome. Reports of the incidence of congenital heart disease in patients who have Down syndrome have varied, but it is commonly accepted to be 50%. Endocardial cushion defect and ventricular septal defects both have been reported as the "most common," but the majority of investigators accept the endocardial cushion defect as being the more frequent. The association between endocardial cushion defects and Down syndrome is so striking that when an endocardial cushion defect is diagnosed in an infant, the possibility of Down syndrome always should be considered.

scholarly journals Identification of Novel Single-Nucleotide Variants With Potential of Mediating Malfunction of MicroRNA in Congenital Heart Disease

2021 ◽  
Vol 8 ◽  
Author(s):  
Wangkai Liu ◽  
Liangping Cheng ◽  
Ken Chen ◽  
Jialing Wu ◽  
Rui Peng ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Target Genes ◽  
Heart Defects ◽  
Single Nucleotide Variants ◽  
Single Nucleotide ◽  
Downstream Target ◽  
Gene Dysregulation ◽  
Great Vessels

Congenital heart defects (CHDs) represent the most common human birth defects. Our previous study indicates that the malfunction of microRNAs (miRNAs) in cardiac neural crest cells (NCCs), which contribute to the development of the heart and the connected great vessels, is likely linked to the pathogenesis of human CHDs. In this study, we attempt to further search for causative single-nucleotide variants (SNVs) from CHD patients that mediate the mis-regulating of miRNAs on their downstream target genes in the pathogenesis of CHDs. As a result, a total of 2,925 3′UTR SNVs were detected from a CHD cohort. In parallel, we profiled the expression of miRNAs in cardiac NCCs and found 201 expressed miRNAs. A combined analysis with these data further identified three 3′UTR SNVs, including NFATC1 c.*654C>T, FGFRL1 c.*414C>T, and CTNNB1 c.*729_*730insT, which result in the malfunction of miRNA-mediated gene regulation. The dysregulations were further validated experimentally. Therefore, our study indicates that miRNA-mediated gene dysregulation in cardiac NCCs could be an important etiology of congenital heart disease, which could lead to a new direction of diagnostic and therapeutic investigation on congenital heart disease.

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