scholarly journals In Utero Diagnoses of Strikingly Similar Presentations of Complete Atrioventricular Septal Defects in a Pair of Dizygotic Twins Concordant for Trisomy 21

2018 ◽  
Vol 2018 ◽  
pp. 1-5
Author(s):  
Diamond Ling ◽  
Jonathan G Dayan
Keyword(s):  
Congenital Heart Disease ◽  
Down Syndrome ◽  
Heart Disease ◽  
Trisomy 21 ◽  
Maternal Age ◽  
Congenital Heart ◽  
Genetic Disorder ◽  
Advanced Maternal Age ◽  
Dizygotic Twins ◽  
Increased Risk

Trisomy 21, or Down syndrome (DS), is a genetic disorder affecting approximately 1 in 500–750 live births. The prevalence of DS has increased over the past two decades, correlating with a rise in the proportion of pregnancies complicated by advanced maternal age. There is also a correlation between advanced maternal age and dizygotic twinning rates. There is an increased risk of at least one twin being affected in dizygotic pregnancies compared to singletons. However, despite this greater relative risk, reports of concordance of DS in both dizygotic twins are very rare. Congenital heart disease (CHD) occurs in roughly 40% of individuals with DS, but there can be considerable phenotypic variation. The most common, atrioventricular septal defect accounts for only 40% of CHD seen in DS. There is also a higher incidence of CHD in twins, but also with a low incidence of concordance. There have been only five reported cases of concordant DS in dizygotic twins with confirmed chromosomal analyses; none of which describe concordant congenital heart disease. Here, we describe an unusual case of dizygotic twins of differing genders concordant for both Down syndrome and congenital heart disease of a strikingly similar presentation.

scholarly journals Pattern of congenital heart diseases among children with Down syndrome attending a tertiary care medical college hospital

2017 ◽  
Vol 4 (4) ◽  
pp. 1357
Author(s):  
Kumar G. V. ◽  
Srinivasa V. ◽  
Ananda kumar T. S.
Keyword(s):  
Congenital Heart Disease ◽  
Down Syndrome ◽  
Heart Disease ◽  
Chromosomal Abnormality ◽  
Trisomy 21 ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Tertiary Care ◽  
Congenital Heart Diseases ◽  
Increased Risk

Background: Down syndrome (DS) is the most common chromosomal abnormality associated with learning difficulties with reported incidence between1/600 -1/1000 live births. DS (trisomy 21) is the most common chromosomal abnormality seen in clinical practice. Most children with DS have trisomy 21, due to chromosomal non-disjunction during meiosis; however, other abnormalities, such as Robertsonian translocation, mosaic, double or triple aneuploidies have been reported. The association between DS and congenital heart disease (CHD) is well established. Congenital heart disease is the most common cause of death among patients with DS and affected children have an increased risk of mortality.Methods: The present descriptive study was conducted on children who had clinical features suggestive of Down syndrome and who were karyotypically proved as Down syndrome.Results: In 100 cases of down syndrome 60 children were males and 40 children were females. 45 children had congenital heart diseases. The frequency of CHD in down syndrome is 45%. Ventricular septal defect was the most common CHD found 40% children with down syndrome.Conclusions: All children with Down’s syndrome should have a cardiac evaluation at birth. Early referral and screening of all babies born with the clinical phenotype of DS should be encouraged due to the high prevalence of congenital heart defects. 

Advanced maternal age and risk of adverse perinatal outcome among women with congenital heart disease: A nationwide register‐based cohort study

2020 ◽  
Vol 34 (6) ◽  
pp. 637-644
Author(s):  
Stine Kloster ◽  
Anne‐Marie Nybo Andersen ◽  
Søren Paaske Johnsen ◽  
Dorte Guldbrand Nielsen ◽  
Annette Kjær Ersbøll ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Cohort Study ◽  
Heart Disease ◽  
Perinatal Outcome ◽  
Maternal Age ◽  
Congenital Heart ◽  
Advanced Maternal Age ◽  
Adverse Perinatal Outcome

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 Nutritional Status and Pulmonary Hypertension in Children with Down Syndrome Presenting with Congenital Heart Disease: Retrospective Study

2020 ◽  
pp. 12-18
Author(s):  
J. M. Chinawa ◽  
O. C. Duru ◽  
B. F. Chukwu ◽  
A. T. Chinawa
Keyword(s):  
Congenital Heart Disease ◽  
Pulmonary Hypertension ◽  
Down Syndrome ◽  
Heart Disease ◽  
Retrospective Study ◽  
Nutritional Status ◽  
Congenital Heart ◽  
Children With Down Syndrome ◽  
Increased Risk ◽  
Hypertension In Children

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 for weight and height which was used to assess their nutritional status, 47.8% (11/28) presented with wasting and stunted, 8.7% (2/28) of those with Down syndrome were wasted and 8.7% (2/28) with stunting. Down syndrome is commoner in children with AV canal defect 50% (14/28) followed by PDA 21.4% (6/14). Fast breathing 86.7% (13/15) as the most common symptom followed by cough 64.3% (9/14) Conclusion: Children with Down syndrome who had congenital heart disease are at increased risk of malnutrition and pulmonary hypertension.

scholarly journals A terhességet megelőzően alkalmazott hosszabb távú orális fogamzásgátlás mint a magzati 21-es triszómia lehetséges kockázatcsökkentő tényezője idős anyai életkorban vállalt terhességben

2018 ◽  
Vol 159 (28) ◽  
pp. 1146-1152
Author(s):  
Dániel Horányi ◽  
Lilla Éva Babay ◽  
Balázs Győrffy ◽  
Gyula Richárd Nagy
Keyword(s):  
Down Syndrome ◽  
Chromosomal Abnormality ◽  
Trisomy 21 ◽  
Maternal Age ◽  
Genetic Disorder ◽  
Advanced Maternal Age ◽  
Oral Contraception ◽  
Summary Report ◽  
Meiotic Nondisjunction

Abstract: Down syndrome is the most common autosomal chromosomal abnormality. According to the classical interpretation, it is the result of meiotic nondisjunction. Its occurrence is more common in advanced maternal age. Despite intensive research, pathophysiology of this genetic disorder is not fully understood. According to recent studies, a different kind of mechanism may be found in the background of trisomy 21 than was previously considered. Based on the ovarian mosaicism model, the cause of trisomy 21 (or any common trisomy) is a segregation error of a chromosome in premeiotic mitosis. The cell entering meiosis will be an oocyte with preexisting trisomy, where its (so-called “secondary”) nondisjunction is essential. Maturation of the trisomic oocytes appears to fall behind the disomic oocytes, resulting in their relative accumulation in the ovaries as time progresses. The ratio of trisomic/disomic cells becomes less favorable in maternal maturity. If ovulation is inhibited – although the number of oocytes will continue to decline due to apoptosis – it can be assumed that the trisomic/disomic oocyte ratio remains more favorable with the progression of age. In our summary report, presenting and updating our previous data, we would like to propose that – according to ovarian mosaicism model – long-term oral contraception in the anamnesis may be beneficial in pregnancies with advanced maternal age. Orv Hetil. 2018; 159(28): 1146–1152.

scholarly journals Genotype-phenotype correlation for congenital heart disease in Down syndrome through analysis of partial trisomy 21 cases

Genomics ◽  
2017 ◽  
Vol 109 (5-6) ◽  
pp. 391-400 ◽  
Author(s):  
Maria Chiara Pelleri ◽  
Elena Gennari ◽  
Chiara Locatelli ◽  
Allison Piovesan ◽  
Maria Caracausi ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Down Syndrome ◽  
Heart Disease ◽  
Trisomy 21 ◽  
Congenital Heart ◽  
Partial Trisomy ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation
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