Major Septal Defects: Comparative Study of Down Syndrome and Non-Down Syndrome Infants, Before and After Surgery

Aziz, Saleha; Ayub, Maaha; Masood, Laiba; Amanullah, Muneer; Hameed, Rukhsana; Hashmi, Shiraz; Ahmad, Waris

doi:10.12669/pjms.36.5.1743

Cited by 3 publications

(2 citation statements)

References 16 publications

(19 reference statements)

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“…25 Aziz et al only inducted 18 Down syndrome cases which limit the generalization of results. 26 When gender was considered as a risk factor for causation of cardiac defect, the odds ratio was 1.72, suggesting that females may be more likely to experience a cardiac defect as compared to males but this association is not significant. Therefore, while there may be a slight indication that gender plays a role as a risk factor in causing cardiac defects, more data or further analysis may be needed to confirm any significant association.…”

Section: Resultsmentioning

confidence: 99%

Gender and its association with cardiac defects in down syndrome population at Children Hospital & Institute of Child Health, Lahore, Pakistan

Haider,

Khan,

Tafweez

et al. 2023

Pak J Med Sci

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Objective: The objective of this study was to determine the frequency of different congenital cardiac defects co-existing in karyotypically proved Down syndrome population. It also highlighted the association between gender and pattern of congenital cardiac defects and gender as a risk factor. Methods: A cross sectional comparative study was done in the Department of Genetics, Children Hospital Lahore in the year 2017. A total of 160 patients were subjected to karyotypic analysis through blood test for determining the type of Down Syndrome and Echocardiography of all established cases was performed for determining presence and types of congenital cardiac defects. Results were evaluated in terms of establishing co-existence of various cardiac phenotypes in Down Syndrome cases. Results: In karyotypically proven 160 cases of Down syndrome, 58.1% of Down Syndrome cases and 88.2% of Down Syndrome with Congenital Cardiac Defects presented in infancy. The odds ratio (OR) suggested that females are 1.72 times more likely to experience a cardiac effect compared to males. Female gender was potentially associated (p-value 0.07) with occurrence of Patent Ductus Arteriosus (47.8%), whereas VSD (Ventricular Septal Defects) was most prevalent (41.1%) in males. Patent Ductus Arteriosus + Atrial Septal Defects (44.4%) was the commonest cardiac defect in female cases. The combined data for pattern of cardiac anomalies showed no significant association with gender, as indicated by a p-value of 0.990. Conclusion: The study concluded that most of Down syndrome cases and Down syndrome with congenital cardiac defects present to the hospital in infancy. Female cases are more prone to develop cardiac defects as compared to males. The manifestation of PDA (Patent Ductus Arteriosus) was significantly associated as an isolated anomaly in females and VSD (Ventricular Septal Defects) as isolated anomaly in males. Patent Ductus Arteriosus tend to co-exist most with ASD (Atrial Septal Defects) in female cases. Gender was not established as a risk factor for affecting the pattern of cardiac defects. doi: https://doi.org/10.12669/pjms.40.3.7346 How to cite this: Haider A, Khan S, Tafweez R, Yaqoob M. Gender and its association with cardiac defects in down syndrome population at Children Hospital & Institute of Child Health, Lahore, Pakistan. Pak J Med Sci. 2024;40(3):---------. doi: https://doi.org/10.12669/pjms.40.3.7346 This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Section: Resultsmentioning

confidence: 99%

Gender and its association with cardiac defects in down syndrome population at Children Hospital & Institute of Child Health, Lahore, Pakistan

Haider,

Khan,

Tafweez

et al. 2023

Pak J Med Sci

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“…These include an increase in intensive care and total hospital stay, an increased risk of sepsis, a higher incidence of post-operative chylothorax and increased mortality. 19 , 20 …”

Section: Introductionmentioning

confidence: 99%

Infants with Down syndrome and congenital heart disease have altered peri-operative immune responses

et al. 2022

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Background Infants with Down syndrome (DS) have an altered immune response. We aimed to characterise the inflammatory response in infants with DS and congenital heart disease (CHD) peri-operatively in comparison to infants with CHD and a normal chromosomal complement, and to healthy infants pre-operatively. Methods Infants with DS/CHD, infants without DS but with CHD (CHD only) and healthy infants were prospectively recruited and serial serum cytokines evaluated peri-operatively using multiplex ELISA: tumour necrosis factor (TNF)-α and TNF-β; interferon (IFN)-γ, interleukin (IL)-1α, IL-2, IL-6, IL-8, IL-18, IL-1β, IL-10, and IL-1ra; vascular endothelial growth factor (VEGF); granulocyte macrophage colony-stimulating factor (GM-CSF); and erythropoietin (EPO). Results Ninety-four infants were recruited including age-matched controls (n = 10), DS/CHD (n = 55), and CHD only (n = 29). Children with DS/CHD had significantly lower concentrations of several cytokines (IL-10, IL-6, IL-8, IL-1β, VEGF) in the pre- and post-operatively vs CHD only and controls. EPO and GM-CSF were significantly higher in DS/CHD (p value <0.05). Conclusions Children with DS/CHD had significantly lower concentrations of several cytokines compared to controls or children with CHD only. EPO and GM-CSF were significantly higher in children with DS/CHD. The assessment of the immune response may be suitable for the predictable clinical outcomes in these children. Impact This study demonstrated that children with Down syndrome (DS) and congenital heart disease (CHD) have significant alterations in pro-inflammatory and anti-inflammatory immune responses peri-operatively. These changes may contribute to adverse clinical outcomes, including sepsis, chylothorax, and autoimmunity. They may impact the pathogenesis and outcome post-operatively and long term in this population. Children with DS and CHD have significantly lower cytokine concentrations, increased EPO and GM-CSF, and decreased VEGF pre- and post-operatively. Assessing their inflammatory state peri-operatively may facilitate the development of a predictive model that can inform tailored management of these infants using novel therapies including immunomodulation.

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Down syndrome child with multiple heart diseases: A case report

Kong,

Li,

et al. 2023

World J Cardiol

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BACKGROUND Down syndrome, also known as trisomy 21 syndrome, is commonly associated with congenital heart disease, and can often result in early formation of pulmonary hypertension. The development of pulmonary hypertension can result from factors such as intracardiac and macrovascular shunts, and upper airway obstruction or hypoplasia of lung tissue. Individuals with Down syndrome and congenital heart disease have a significantly lower average life expectancy, with surgical intervention being the most viable treatment option to improve longevity. CASE SUMMARY We report the case of a 13-year-old boy with Down syndrome presenting with atrial septal defect and patent ductus arteriosus along with severe pulmonary hypertension. The electrocardiogram shows sinus rhythm and right ventricular hypertrophy. The echocardiogram shows an atrial septal defect with interrupted echo in the interatrial septum, measuring 0.813 cm in length. The patient was initially refused to be offered surgical treatment by many hospitals due to the high surgical risk and pulmonary artery resistance. After discussing the patient’s diagnosis and treatment options, we ultimately recommended surgical treatment. However, the patient and their family declined this recommendation and chose to be discharged. During the follow-up period of 6 mo, there were no significant improvements or deteriorations in the patient’s condition. CONCLUSION In conclusion, this case highlights the challenges faced by individuals with Down syndrome and congenital heart disease complicated by severe pulmonary hypertension. Timely intervention and a multidisciplinary approach are crucial for improving prognosis and life expectancy. Further research is needed to enhance our understanding and develop effective interventions for this population.

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Major Septal Defects: Comparative Study of Down Syndrome and Non-Down Syndrome Infants, Before and After Surgery

Cited by 3 publications

References 16 publications

Gender and its association with cardiac defects in down syndrome population at Children Hospital & Institute of Child Health, Lahore, Pakistan

Gender and its association with cardiac defects in down syndrome population at Children Hospital & Institute of Child Health, Lahore, Pakistan

Infants with Down syndrome and congenital heart disease have altered peri-operative immune responses

Down syndrome child with multiple heart diseases: A case report

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