The spectrum of congenital heart diseases in down syndrome

Morsy, Mohamed M.; Algrigri, Osama O.; Salem, Sherif S.; Abosedera, Mostafa M; Abutaleb, Ashraf R.; Al-Harbi, Khaled M.; Al-Mozainy, Ibrahim; Alnajjar, Abdulhameed A.; Habeb, Abdelhadi; Abo‐Haded, Hany M.

doi:10.15537/smj.2016.7.14536

Cited by 21 publications

(18 citation statements)

References 22 publications

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“…30 Those studies have reported the proportions of AVSD as 12.5% and 11.6% respectively. However, 29,31,32 In the present study, a majority of the children had single isolated cardiac lesions (88.9%).…”

Section: Congenital Heart Disease and Thyroid Dysfunction In Down Syncontrasting

confidence: 47%

Congenital heart disease and thyroid dysfunction in Down syndrome reported at Children`s Hospital, Lahore, Pakistan

Yaqoob

Manzoor²,

Hyder³

et al. 2019

Turk J Pediatr

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Down syndrome is one of the main causes of intellectual disability in children. It occurs in every community and ethnic group. Several co-morbid conditions are associated with this syndrome. The present study was conducted to determine the frequency of congenital heart disease and thyroid dysfunction in a group of children affected with this genetic disorder. It was a record based retrospective study. A child having specific clinical features and chromosomal analysis showing an extra chromosome 21 was diagnosed as having Down syndrome. Diagnosis of congenital heart disease was based upon results of echocardiography. Thyroid dysfunction was diagnosed when either or both tetraiodothyronine and thyroid-stimulating hormone serum levels were abnormal. Three hundred and fifty cases were enrolled in the study according to the preset criteria for Down syndrome. Two hundred and ten (60%) were males and 140 (40%) females showing male to female ratio as 1.5 to 1. Majority of the children (55.1%) presented between 7 months and 24 months of age. Congenital heart defects were found in 41.8% of the cases. Ventricular septal defect was the most common, 41%. Thyroid dysfunction was found in 22% (n=60) of the cases of which 5.9% (n=16) had hypothyroidism. In conclusion, the frequency of congenital heart disease and thyroid dysfunction in Down syndrome children is high. Early referral of these children to tertiary health care facilities is emphasized as timely detection and management of these comorbid conditions will help in reducing the morbidity and mortality in this group of children.

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Section: Congenital Heart Disease and Thyroid Dysfunction In Down Syncontrasting

confidence: 47%

Congenital heart disease and thyroid dysfunction in Down syndrome reported at Children`s Hospital, Lahore, Pakistan

Yaqoob

Manzoor²,

Hyder³

et al. 2019

Turk J Pediatr

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“…AVSD with RVOTO which is a variant of TOF was seen in a few cases (2.81%) in our study which is comparable to Morsy MM 34 and McElhinney 35 studies each having 2.26% and 2% cases respectively. The other mixed lesions were very low in number like PDA with ASD, TOF with PDA while complex mixed lesions were extremely rare like ccTGA with VSD, DORV with VSD and PS, Pulmonary atresia with VSD and PDA, Univentricular heart with CAVSD and RVOTO.…”

Section: Mixed Cardiac Defectssupporting

confidence: 86%

Spectrum of congenital heart disease in Down syndrome at Faisalabad institute of cardiology: A retrospective study.

Mughal

Khalid

Safdar

et al. 2020

TPMJ

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Congenital heart disease (CHD) is the most common structural anomaly in Down syndrome children with a variable spectrum all over the world including Pakistan. Objectives: To determine the spectrum of congenital heart disease in Down syndrome at Faisalabad Institute of cardiology (FIC) Faisalabad. Study Design: Retrospective descriptive case series. Setting: Pediatric Cardiology Department of FIC, Faisalabad. Period: From January 2013 to June 2019. Material & Methods: All Consecutive patients of Down syndrome who underwent diagnostic Echocardiography at FIC were enrolled. Those having confirmed diagnosis of CHD were included in the study. Results: Out of 321Down syndrome children77.6% (n=249) had CHD and were enrolled for study. Male were 53.8% (n=134) while 46.2% were female (n=115). Majority of patients were below one year of age (57%, n=142). Acyanotic CHD was seen in 83.1 % of patients (n=207) while 16.9 % (n=42) had cyanotic CHD. Isolated cardiac defects was seen in 73.1% of patients (n=182) while 26.9 % had mixed cardiac lesions (n=67). Ventricular septal defect (VSD) was the most common (22.1%, n=55) solitary lesion followed by 14.5% cases of atrioventricular septal defect (AVSD), PDA (13.3%) and ASD (8.8%). Tetralogy of Fallot (TOF) was seen in 8.4%, AS in 1.2% while TGA, Tricuspid atresia, pulmonary valve stenosis, coarctation and Ebstein anomaly (0.8% each) were less common solitary defects. In mixed cardiac defects VSD with PDA was the most common (n=13, 5.22%) followed by VSD with ASD (n=12, 4.81%) and VSD with RVOTO (n=8, 3.21%). In AVSD cases, RVOTO was present in 2.81% (n=7), PDA with ASD was seen in 2% cases (n=5) while CcTGA, DORV, Pulmonary atresia were least common. Pulmonary Hypertension was present in 54.2% cases of left to right shunt lesions. Conclusion: Incidence of CHD in referred cases of Down syndrome is high (77.6%) at our setup. Acyanotic congenital heart defects are more common. VSD is the most common acyanotic CHD followed by AVSD while TOF is the most common cyanotic CHD.

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“…However, it was comparable with that reported in Alhassa (38.4%). 1 The authors also estimated a lower cumulative frequency AVSD in DS patients in KSA (25.6%) 1 compared with 50% reported worldwide. 2 The authors addressed 2 limitations that might explain the variations in the frequency of various forms of CHD, including AVSD among different regions in KSA as well as that reported worldwide.…”

mentioning

confidence: 87%

“…I have 2 comments on the outstanding study by Morsy et al 1 on the spectrum of congenital heart diseases (CHD) in Down syndrome (DS) patients.…”

mentioning

confidence: 99%

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