Ten-year trend in prevalence and outcome of Down syndrome with congenital heart disease in a middle-income country

Zahari, Norazah; Bah, Mohd Nizam Mat; Razak, Hasliza; Thong, Meow‐Keong

doi:10.1007/s00431-019-03403-x

Cited by 16 publications

(13 citation statements)

References 31 publications

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“…In our cohort, CHD was the most prevalent comorbidity across all three settings, consistent with the general DS population (Cleves et al, 2007; Irving & Chaudhari, 2012; So et al, 2007) and 34% of our patients had a CHD repair. This finding is similar to the general DS population in which previous studies have reported surgical repair of CHD in 30%–67% of population (Corder et al, 2017; Irving & Chaudhari, 2012; Zahari et al, 2019). Similarly, dysphagia and/or feeding difficulties were common.…”

Section: Discussionsupporting

confidence: 87%

Pneumonia and respiratory infection in Down syndrome: A 10‐year cohort analysis of inpatient and outpatient encounters across the lifespan

Blake

Gómez

Skotko

et al. 2021

American J of Med Genetics Pt A

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Respiratory illnesses are a significant contributor of morbidity and mortality among persons with Down syndrome (DS). Reviews have described respiratory illnesses of DS in childhood, but few have looked across the lifespan. Retrospective chart review of patients in our DS program with clinical encounters for respiratory illnesses from 2011 to 2020 was completed. Eighteen percent of clinical encounters were due to respiratory illnesses. Of these, 120 were seen in the emergency department, 88 were admitted, and 21 were seen in urgent care. Common comorbidities included congenital heart disease, asthma, and dysphagia. Admission was common for children under the age of 5 years and adults over the age of 45 years. Admitted patients were more likely to have history of pneumonia and chronic lung disease. Of admitted patients, 77% required supplemental oxygen and 46% required intensive care unit admission.Our findings highlight that respiratory illnesses are a common cause of healthcare utilization among patients with DS, particularly early in childhood and later in life.

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Section: Discussionsupporting

confidence: 87%

Pneumonia and respiratory infection in Down syndrome: A 10‐year cohort analysis of inpatient and outpatient encounters across the lifespan

Blake

Gómez

Skotko

et al. 2021

American J of Med Genetics Pt A

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“…The present study found the overall prevalence to be 25.5% (95%CI: 17.4%-35.8%) from a pool of 17 studies which met the inclusion criteria. This finding has shown concordance with multiple studies[ 6 , 37 , 38 , 45 , 46 ]. In order to reduce heterogeneity, subgroup analysis was carried out according to age, gender, region, etiology of PH and bias.…”

Section: Discussionsupporting

confidence: 93%

Prevalence of pulmonary hypertension among children with Down syndrome: A systematic review and meta-analysis

Pujari¹,

Jameel²,

Taksande³

et al. 2021

WJCP

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BACKGROUND Pulmonary hypertension (PH) has serious short- and long-term consequences. PH is gaining increasing importance in high risk groups such as Down syndrome (DS) as it influences their overall survival and prognosis. Hence, there is a dire need to collate the prevalence rates of PH in order to undertake definitive measures for early diagnosis and management. AIM To determine the prevalence of PH in children with DS. METHODS The authors individually conducted a search of electronic databases manually (Cochrane library, PubMed, EMBASE, Scopus, Web of Science). Data extraction and quality control were independently performed by two reviewers and a third reviewer resolved any conflicts of opinion. The words used in the literature search were “pulmonary hypertension” and “pulmonary arterial hypertension”; “Down syndrome” and “trisomy 21” and “prevalence”. The data were analyzed by Comprehensive Meta-Analysis Software Version 2. Risk of bias assessment and STROBE checklist were used for quality assessment. RESULTS Of 1578 articles identified, 17 were selected for final analysis. The pooled prevalence of PH in these studies was 25.5%. Subgroup analysis was carried out for age, gender, region, year of publication, risk of bias and etiology of PH. CONCLUSION This review highlights the increasing prevalence of PH in children with DS. It is crucial for pediatricians to be aware of this morbid disease and channel their efforts towards earlier diagnosis and successful management. Community-based studies with a larger sample size of children with DS should be carried out to better characterize the epidemiology and underlying etiology of PH in DS.

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“…Down syndrome was genetically characterized by Lejeune in 1959 [ 25 , 89 , 90 ]. More than 60 years later, in almost 50% of cases, heart defects are observed, mainly VSD, which is seen in 43% of cases, and to a lesser extent secumdum-type ASD, seen in 42% of cases, as well as PAD, ToF, and AVSD ( Table 1 ) [ 91 , 92 ].…”

Section: Syndromes With Congenital Cardiac Alterationmentioning

confidence: 99%

Personalized Genetic Diagnosis of Congenital Heart Defects in Newborns

Diz

Toro

César

et al. 2021

JPM

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Congenital heart disease is a group of pathologies characterized by structural malformations of the heart or great vessels. These alterations occur during the embryonic period and are the most frequently observed severe congenital malformations, the main cause of neonatal mortality due to malformation, and the second most frequent congenital malformations overall after malformations of the central nervous system. The severity of different types of congenital heart disease varies depending on the combination of associated anatomical defects. The causes of these malformations are usually considered multifactorial, but genetic variants play a key role. Currently, use of high-throughput genetic technologies allows identification of pathogenic aneuploidies, deletions/duplications of large segments, as well as rare single nucleotide variants. The high incidence of congenital heart disease as well as the associated complications makes it necessary to establish a diagnosis as early as possible to adopt the most appropriate measures in a personalized approach. In this review, we provide an exhaustive update of the genetic bases of the most frequent congenital heart diseases as well as other syndromes associated with congenital heart defects, and how genetic data can be translated to clinical practice in a personalized approach.

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Ten-year trend in prevalence and outcome of Down syndrome with congenital heart disease in a middle-income country

Cited by 16 publications

References 31 publications

Pneumonia and respiratory infection in Down syndrome: A 10‐year cohort analysis of inpatient and outpatient encounters across the lifespan

Pneumonia and respiratory infection in Down syndrome: A 10‐year cohort analysis of inpatient and outpatient encounters across the lifespan

Prevalence of pulmonary hypertension among children with Down syndrome: A systematic review and meta-analysis

Personalized Genetic Diagnosis of Congenital Heart Defects in Newborns

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