Association of Maternal Age with Type of Congenital Heart Disease in Patients with Down Syndrome: A Single-center Study

Epçaçan, Serdar; Tunçdemir, Perihan; ZerrinKarakuş-Epçaçan,; Tunçdemir, Yunus Emre

doi:10.9734/ca/2019/46914

Cited by 2 publications

(2 citation statements)

References 18 publications

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“…AVSD can occurs as a simplex trait, but also is associated with genetic syndromes such as Noonan syndrome, Holt-Oram syndrome and especially Down's syndrome. Previous studies found that AVSD were the most common CHDs in Down's syndrome, the incidence was from 9.6% to 46.4% (Mourato et al, 2014;Epçaçan et al, 2019). However, it remained ambiguous whether Down's syndrome was genetically linked with AVSD (Sailani et al, 2013).…”

Section: Discussionmentioning

confidence: 99%

Rare copy number variation analysis identifies disease-related variants in atrioventricular septal defect patients

Geng²,

Zhang³

et al. 2023

Front. Genet.

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Atrioventricular septal defect (AVSD) is a deleterious subtype of congenital heart diseases (CHD) characterized by atrioventricular canal defect. The pathogenic genetic changes of AVSD remain elusive, particularly for copy number variation (CNV), a large segment variation of the genome, which is one of the major forms of genetic variants resulting in congenital heart diseases. In the present study, we recruited 150 AVSD cases and 100 healthy subjects as controls for whole exome sequencing (WES). We identified total 4255 rare CNVs using exon Hidden Markov model (XHMM) and screened rare CNVs by eliminating common CNVs based on controls and Database of Genomic Variants (DGV). Each patient contained at least 9 CNVs, and the CNV burden was prominently presented in chromosomes 19,22,21&16. Small CNVs (<500 kb) were frequently observed. By leveraging gene-based burden test, we further identified 20 candidate AVSD-risk genes. Among them, DYRK1A, OBSCN and TTN were presented in the core disease network of CHD and highly and dynamically expressed in the heart during the development, which indicated they possessed the high potency to be AVSD-susceptible genes. These findings not only provided a roadmap for finally unveiling the genetic cause of AVSD, but also provided more resources and proofs for clinical genetics.

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Section: Discussionmentioning

confidence: 99%

Rare copy number variation analysis identifies disease-related variants in atrioventricular septal defect patients

Geng²,

Zhang³

et al. 2023

Front. Genet.

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“…The effect of maternal age on the association of CHD and DS is unclear; some studies reported a greater risk for CHDs in young mothers, [12,30] whereas others observed no maternal age effect [27,28] . We did not find any association between maternal age and the CHDs in our cohort of DS patients.…”

Section: Discussionmentioning

confidence: 99%

Descriptive Study of the Different Phenotypes of Congenital Heart Disease in a Cohort of Egyptian Patients Diagnosed with Down Syndrome

MOHAMED I. SANHOURY,

RANIA F. ELNAHAS, M.D.*; SOHA KHOLEIF,

2023

The Medical Journal of Cairo University

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Background: Approximately half of all Down syndrome (DS) infants have a congenital heart defect (CHD), including atrioventricular septal defects (AVSD), atrial septal defect (ASD), ventricular septal defect (VSD) and tetralogy of Fallot (ToF). Aim of Study:The study aimed to determine the prevalence, cardiovascular phenotypes, and gender differences in CHD associated with DS in Alexandria, Egypt. Patients and Methods:The present study is a retrospective descriptive single-centre study included 722 DS patients attending the Human Genetics clinic, Medical Research Institute, Alexandria University. Data were retrieved from the medical files of DS patients.Results: CHD was present in 59% of DS patients. The most common were ASD (42.3%) and AVSD (25.1%). CHDs were more frequent in females, including total CHDs ( p=0.03,

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Association of Maternal Age with Type of Congenital Heart Disease in Patients with Down Syndrome: A Single-center Study

Cited by 2 publications

References 18 publications

Rare copy number variation analysis identifies disease-related variants in atrioventricular septal defect patients

Rare copy number variation analysis identifies disease-related variants in atrioventricular septal defect patients

Descriptive Study of the Different Phenotypes of Congenital Heart Disease in a Cohort of Egyptian Patients Diagnosed with Down Syndrome

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