Evaluation of congenital heart diseases and thyroid abnormalities in children with Down syndrome

Mıhçı, Ercan; Akçurin, Gayaz; Eren, Erdal; Kardelen, Fırat; Akçurin, Sema; Keser, İbrahim; Ertuğ, Halil

doi:10.5152/akd.2010.143

Cited by 17 publications

(7 citation statements)

References 21 publications

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“…In previous studies, syndromic chromosome abnormalities explained 6-9 % of CHD [ 28 ]. We found that Down syndrome (4 cases, 2.5 %), DiGeorge syndrome (2 cases, 1.2 %) and Trisomy X syndrome (2 cases, 1.2 %) contributed to up to 5 % of cases of VSD, consistent with the previous report [ 23 , 24 ]. In addition, we identified large CNVs (> 1 Mb) (3/161, 1.9 %) including 4q34.3-q35.1, 3q26.32-q29 and 16p13.11-p11.2, which are associated with CHD as reported by DECIPHER and ISCA.…”

Section: Discussionsupporting

confidence: 92%

“…We identified six aneuploid abnormalities: two cases of trisomy X (47, XXX) and four of trisomy 21. Up to 70 % of Down syndrome [ 23 ]subjects but only 1.3 % of trisomy X subjects have been reported to display CHD. CHD features in the trisomy X patients included VSD, ASD (Atrial septal defect), pulmonic and aortic stenosis coarctation [ 24 ].…”

Section: Resultsmentioning

confidence: 99%

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Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population

Duan

Huang

et al. 2015

BMC Med Genomics

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BackgroundVentricular septal defects (VSDs) constitute the most prevalent congenital heart disease (CHD), occurs either in isolation (isolated VSD) or in combination with other cardiac defects (complex VSD). Copy number variation (CNV) has been highlighted as a possible contributing factor to the etiology of many congenital diseases. However, little is known concerning the involvement of CNVs in either isolated or complex VSDs.MethodsWe analyzed 154 unrelated Chinese individuals with VSD by chromosomal microarray analysis. The subjects were recruited from four hospitals across China. Each case underwent clinical assessment to define the type of VSD, either isolated or complex VSD. CNVs detected were categorized into syndrom related CNVs, recurrent CNVs and rare CNVs. Genes encompassed by the CNVs were analyzed using enrichment and pathway analysis.ResultsAmong 154 probands, we identified 29 rare CNVs in 26 VSD patients (16.9 %, 26/154) and 8 syndrome-related CNVs in 8 VSD patients (5.2 %, 8/154). 12 of the detected 29 rare CNVs (41.3 %) were recurrently reported in DECIPHER or ISCA database as associated with either VSD or general heart disease. Fifteen genes (5 %, 15/285) within CNVs were associated with a broad spectrum of complicated CHD. Among these15 genes, 7 genes were in “abnormal interventricular septum morphology” derived from the MGI (mouse genome informatics) database, and nine genes were associated with cardiovascular system development (GO:0072538).We also found that these VSD-related candidate genes are enriched in chromatin binding and transcription regulation, which are the biological processes underlying heart development.ConclusionsOur study demonstrates the potential clinical diagnostic utility of genomic imbalance profiling in VSD patients. Additionally, gene enrichment and pathway analysis helped us to implicate VSD related candidate genes.Electronic supplementary materialThe online version of this article (doi:10.1186/s12920-015-0163-4) contains supplementary material, which is available to authorized users.

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Section: Discussionsupporting

confidence: 92%

Section: Resultsmentioning

confidence: 99%

Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population

Duan

Huang

et al. 2015

BMC Med Genomics

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“…In spite of this, the prognoses of different types of CHD in Down syndrome are not the same and isolated simple CHD has a better prognosis than complex or multiple CHD, for example, AVSD (11). On the one hand, identifying the other associations in Down syndrome can be effective in the overall prognosis of the disease (12,13). In a big case-control study 2117 patients with acute lymphoblastic leukemia and 605 patients with acute myelogenous leukemia were compared to a healthy sample through telephone interview.…”

Section: Discussionmentioning

confidence: 99%

“…Coincidence of CHD (congenital heart defect) and other organ diseases can influence prognosis and mortality rate (5,6). Approximately half of these patients have congenital heart disease (1,(7)(8)(9) and usually require cardiac surgery, which has a good prognosis (10,11), but other organ involvements (12,13) such as leukemia may worsen the prognosis of the cardiac treatment (14,15). Detection of risk factors that increase this association can be important in the management of Down syndrome (16,17).…”

Section: Introductionmentioning

confidence: 99%

Association of Leukemia and Congenital Heart Disease in Patients with Down Syndrome

et al. 2020

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Down syndrome (DS) or trisomy 21 is the most common type of trisomy among children. Almost half of these patients are at risk for congenital heart disease, and a minority of them may suffer from leukemia. The association of congenital heart disease and leukemia may be life threatening. It is important to determine the factors that increase leukemia in CHD. In this descriptive crosssectional research, all patients with Down syndrome who referred to Neonatal, Pediatrics, Pediatric Cardiology, and Hematology Departments of Besat Hospital of Hamedan from 2010 to 2017 were included. Patients' data were obtained from paper and electronic records or phone calls (if needed), and then the data was analyzed. We used odd ratio and confidence interval to study the risk increase of leukemia. Total number of patients diagnosed with Down syndrome was 118 cases. 98 (83%) cases had congenital heart disease, among them 33 cases (33.6%) had history of angiography. The most common cardiovascular diseases were AVSD (30.6%), TOF (16.3%), ASD 2 (16.3%), and VSD (15.3%), PDA (14.2%). The most common type of leukemia was ALL. Among CHD (congenital heart disease) patients, 92 (78%) cases suffered only from congenital heart disease, and 6 (5.08%) of them had leukemia and congenital heart disease simultaneously, among them 4 (66%) patients had history of angiography (P = 0.078). Two cases had leukemia without CHD. The odds ratio of leukemia in patients with DS, in association of congenital heart disease was 1.70, and in patients who had history of angiography it was 3.93 with 95% confidence interval (0.686-22.63) (P > 0.05). Although angiography didn't statistically increase risk of leukemia in DS (P = 0.078), this risk increase can be clinically important.

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“…DS mainly causes mental retardation associated with a number of medical problems that may lower life quality and shorten life expectancy. Congenital heart disease is the most frequent systemic malformation; it is present in 16-62% of cases (Mihci et al, 2010). Subjects with DS have increased susceptibility to bacterial and viral infections, malignancies, and autoimmune disorders, which increase mortality and morbidity (Cetiner et al, 2010).…”

Section: Introductionmentioning

confidence: 99%

Retrospective analysis of live birth prevalence of children with Down syndrome in Denizli, Turkey

Açıkbaş¹,

Tomatir²,

Akdag³

et al. 2012

Genet. Mol. Res.

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ABSTRACT. Down syndrome (DS) is the most frequent chromosome abnormality among live births. Its prevalence increases with maternal age, and can be diagnosed by antenatal screening. We examined prevalence variations of DS in Denizli, Turkey, through a retrospective study. Sixteen years of survey data were retrieved from the two main state hospital registries from records between 1994 and 2010. We identified 113 DS live births in Denizli for 16 years. The prevalence of DS was 9.07 per 10,000 live births before the year 2000 and 9.90 after 2000. The prevalence did not change significantly. The population in Turkey is still young; the fertility rate is high in women under 35 years old and prenatal screening programs are extensively applied; for these reasons, the prevalence of DS has remained stable during these 16 years.

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Evaluation of congenital heart diseases and thyroid abnormalities in children with Down syndrome

Cited by 17 publications

References 21 publications

Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population

Genome-wide copy number variant analysis for congenital ventricular septal defects in Chinese Han population

Association of Leukemia and Congenital Heart Disease in Patients with Down Syndrome

Retrospective analysis of live birth prevalence of children with Down syndrome in Denizli, Turkey

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