Cardiac Spectrum, Cytogenetic Analysis and Thyroid Profile of 418 Children with Down Syndrome from South India: A Cross-sectional Study

Narayanan, Dhanya Lakshmi; Yesodharan, Dhanya; Kappanayil, Mahesh; Kuthiroly, Shwetha; Thampi, M. V.; Hamza, Zareena; Anilkumar, Alka; Nair, Krishnanunni; Sundaram, K. R.; Kumar, Raman; Nampoothiri, Sheela

doi:10.1007/s12098-013-1088-6

Cited by 22 publications

(28 citation statements)

References 14 publications

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“…Direct contact with the authors of the remaining 31 articles made it possible to include another eight studies [12,13,20,[26][27][28][29][30], totalizing 12 articles for analysis. In total, 20,465 patients with DS (11,165 male and 9300 female) were included in the meta-analysis.…”

Section: Resultsmentioning

confidence: 99%

Gender differences in the prevalence of congenital heart disease in Down’s syndrome: a brief meta-analysis

et al. 2017

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Background: Down's syndrome (DS) affects one per 700 live births and congenital heart disease (CHD) occurs in 40-60% of these patients. Contributing factors to the association between DS and CHD are being unraveled. Gender could be one of them. Methods: We performed a meta-analysis of CHD prevalence in DS, separated by gender. Three search engines were used and 578 articles were reviewed. Twelve articles were included. Results: Quantitative analysis showed a higher prevalence of CHD, particularly atrioventricular septal defects (AVSD), in female patients. No differences were found in others forms of CHD. Conclusion: CHD, particularly AVSD, are more common in the female gender of Down's syndrome patients.

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Section: Resultsmentioning

confidence: 99%

Gender differences in the prevalence of congenital heart disease in Down’s syndrome: a brief meta-analysis

et al. 2017

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“…It has been suggested that when characterising the profiles and types of CHD in DS, the dominant lesions observed are variable according to the different geographical areas around the world 7,8. Hence, for a given country, to know the profile and characteristics of CHD in DS is of great importance, first to improve survival by timely treatment of cardiac anomalies,10 and second to apply appropriate preventative measures.…”

Section: Discussionmentioning

confidence: 99%

“…It has been suggested that the profile and type of these CHDs are variable according to the different geographical areas around the world 7,8. Recent studies in Norway also suggest a seasonal variation in the occurrence of DS and birth defects, and provide indirect evidence of the causal role of environmental factors,since genetic factors do not exhibit seasonality 9.…”

Section: Introductionmentioning

confidence: 99%

Congenital heart disease and Down syndrome: various aspects of a confirmed association

Benhaourech

Drighil

Hammiri

2016

CVJA

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SummaryBackgroundCongenital heart disease (CHD) is frequently described in patients with Down syndrome (DS) and is the main cause of death in this population during the first two years of life. The spectrum of CHD patterns in DS varies widely worldwide; this variation could be due to sociodemographic, genetic and geographic factors.MethodsA six-year retrospective, descriptive study was carried out from December 2008 to October 2014, based on the Paediatric Unit CHD registry of Ibn Rochd University Hospital. Clinical, echocardiographic and outcomes data were collected and sorted according to confirmation of the syndrome.ResultsAmong 2 156 patients with CHD, 128 were identified with Down syndrome. The genders were equally represented (gender ratio 1) and the median age at diagnosis was 9.5 months (2 days to 16 years). The median age of mothers at delivery was 39 years (16–47). Of the 186 CHD lesions reported, the most common was atrioventricular septal defect (AVSD, 29%), followed by ventricular septal defect (VSD,21.5%) and atrial septal defect (ASD, 19.9%). The most common associations of CHD were AVSD + ASD (10%) and VSD + ASD (7.8%). Surgery was the most common modality of treatment (54.3%). The overall mortality rate was 14.1%.ConclusionOur study confirmed that the profile and type of CHD in DS in the Moroccan setting exhibited slight differences in the distribution of these CHDs compared with European neighbours and other Western countries. Further studies are needed to determine which variables have an impact on these differences.

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“…The prevalence of hypothyroidism in children and adults with Down syndrome has been reported to be as high as 4% to 18%. [254][255][256] The incidence increases over time and may relate to inadequate thyroid tissue or the increased incidence of autoimmunity in Down syndrome. 257 Adults with TOF and syndromic features have an elevated prev- …”

Section: Prevalence and Pathogenesismentioning

confidence: 99%

Diagnosis and Management of Noncardiac Complications in Adults With Congenital Heart Disease: A Scientific Statement From the American Heart Association

Lui¹,

Saïdi²,

Bhatt³

et al. 2017

Circulation

180

136

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ABSTRACT:Life expectancy and quality of life for those born with congenital heart disease (CHD) have greatly improved over the past 3 decades. While representing a great advance for these patients, who have been able to move from childhood to successful adult lives in increasing numbers, this development has resulted in an epidemiological shift and a generation of patients who are at risk of developing chronic multisystem disease in adulthood. Noncardiac complications significantly contribute to the morbidity and mortality of adults with CHD. Reduced survival has been documented in patients with CHD with renal dysfunction, restrictive lung disease, anemia, and cirrhosis. Furthermore, as this population ages, atherosclerotic cardiovascular disease and its risk factors are becoming increasingly prevalent. Disorders of psychosocial and cognitive development are key factors affecting the quality of life of these individuals. It is incumbent on physicians who care for patients with CHD to be mindful of the effects that disease of organs other than the heart may have on the well-being of adults with CHD. Further research is needed to understand how these noncardiac complications may affect the long-term outcome in these patients and what modifiable factors can be targeted for preventive intervention.

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Cardiac Spectrum, Cytogenetic Analysis and Thyroid Profile of 418 Children with Down Syndrome from South India: A Cross-sectional Study

Cited by 22 publications

References 14 publications

Gender differences in the prevalence of congenital heart disease in Down’s syndrome: a brief meta-analysis

Gender differences in the prevalence of congenital heart disease in Down’s syndrome: a brief meta-analysis

Congenital heart disease and Down syndrome: various aspects of a confirmed association

Diagnosis and Management of Noncardiac Complications in Adults With Congenital Heart Disease: A Scientific Statement From the American Heart Association

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