Congenital Heart Disease and Its Association in Children With Down Syndrome

Rehman, Yasir; Wazir, Haseen Dil; Akbar, Ali; Khan, Abdul Moeed; Hussain, Ijaz; Afridi, Amir; Gul, Huma; Sadia, Haleema

doi:10.7759/cureus.29176

Cited by 3 publications

(3 citation statements)

References 21 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…24 Rehman Y et al in 2022 at pediatric department of Peshawar Institute of Cardiology, supported the same finding as Mughal. 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.…”

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

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

View full text Add to dashboard Cite

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.

show abstract

Section: Resultsmentioning

confidence: 99%

Section: Discussionmentioning

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

View full text Add to dashboard Cite

show abstract

“…Por su parte, Rehman et al 46 , en el estudio transversal observacional realizado en el departamento de pediatría del Instituto de Cardiología de Peshawar, Pakistán, que incluyó 123 pacientes, 101 (82.1%) con cardiopatía congénita acianótica y 22 (17.8%) con cardiopatía congénita cianótica, el diagnóstico fue confirmado mediante ecocardiografía bidimensional (2D) y Doppler realizado por un cardiólogo pediatra.…”

Section: Nivel De Evidencia Bunclassified

Consenso formal basado en la evidencia y opinión de expertos en inmunoprofilaxis con palivizumab en pacientes con cardiopatía congénita

2024

RCCAR

View full text Add to dashboard Cite

show abstract

Genetics and Molecular Basis of Congenital Heart Defects in Down Syndrome: Role of Extracellular Matrix Regulation

Mollo

Scognamiglio

Conti

et al. 2023

IJMS

View full text Add to dashboard Cite

Down syndrome (DS), a complex disorder that is caused by the trisomy of chromosome 21 (Hsa21), is a major cause of congenital heart defects (CHD). Interestingly, only about 50% of individuals with Hsa21 trisomy manifest CHD. Here we review the genetic basis of CHD in DS, focusing on genes that regulate extracellular matrix (ECM) organization. The overexpression of Hsa21 genes likely underlies the molecular mechanisms that contribute to CHD, even though the genes responsible for CHD could only be located in a critical region of Hsa21. A role in causing CHD has been attributed not only to protein-coding Hsa21 genes, but also to genes on other chromosomes, as well as miRNAs and lncRNAs. It is likely that the contribution of more than one gene is required, and that the overexpression of Hsa21 genes acts in combination with other genetic events, such as specific mutations or polymorphisms, amplifying their effect. Moreover, a key function in determining alterations in cardiac morphogenesis might be played by ECM. A large number of genes encoding ECM proteins are overexpressed in trisomic human fetal hearts, and many of them appear to be under the control of a Hsa21 gene, the RUNX1 transcription factor.

show abstract

Congenital Heart Disease and Its Association in Children With Down Syndrome

Cited by 3 publications

References 21 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

Consenso formal basado en la evidencia y opinión de expertos en inmunoprofilaxis con palivizumab en pacientes con cardiopatía congénita

Genetics and Molecular Basis of Congenital Heart Defects in Down Syndrome: Role of Extracellular Matrix Regulation

Contact Info

Product

Resources

About