Down Syndrome: A Literature Review

International Journal of Advances in Nursing Management ◽

10.52711/2454-2652.2021.00075 ◽

2021 ◽

pp. 328-331

Author(s):

Rutika, B. Maske

Keyword(s):

Down Syndrome ◽

Literature Review ◽

Congenital Heart ◽

Literature Search ◽

Social Cost ◽

Heart Defects ◽

Hirschsprung Disease ◽

Review Article ◽

Special Focus ◽

Variable Extent

The purpose of this review is to provide the latest information on Down syndrome. The author conducted a literature search of available sources describing the issue of down syndrome with special focus on syndrome and made a comparison and evaluation of relevant findings.The results of this review indicate that Down syndrome (DS) is one of the commonest disorders with huge medical and social cost. DS is associated with number of phenotypes including congenital heart defects, leukemia, Alzeihmer’s disease, Hirschsprung disease etc. DS individuals are affected by these phenotypes to a variable extent thus understanding the cause of this variation is a key challenge. In the present review article, we emphasize an overview of DS, DS-associated phenotypes diagnosis and management of the disease.

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Impact of prenatal screening on congenital heart defects in neonates with Down syndrome in the US

Pediatric Research ◽

10.1038/s41390-021-01416-7 ◽

2021 ◽

Author(s):

Stephen A. Hart ◽

Deipanjan Nandi ◽

Carl H. Backes ◽

Clifford L. Cua

Keyword(s):

Down Syndrome ◽

Congenital Heart Defects ◽

Congenital Heart ◽

Prenatal Screening ◽

Heart Defects ◽

The Us

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Down syndrome and congenital heart disease: perioperative planning and management

Journal of Congenital Cardiology ◽

10.1186/s40949-021-00061-3 ◽

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.

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Prevalence and profile of congenital heart disease and pulmonary hypertension in Down syndrome in a pediatric cardiology service

Revista Paulista de Pediatria ◽

10.1590/0103-0582201432218913 ◽

2014 ◽

Vol 32 (2) ◽

pp. 159-163 ◽

Cited By ~ 17

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.

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