Characteristics of Patent Ductus Arteriosus in Congenital Rubella Syndrome

Toizumi, Michiko; T., Cam Giang; Motomura, Hideki; N., Tin; Fukunaga, Hirofumi; Iijima, Makiko; Le, Nhan Nt.; Nguyen, Hung Thanh; Moriuchi, Hiroyuki; Yoshida, Lay-Myint

doi:10.1038/s41598-019-52936-6

Cited by 6 publications

(6 citation statements)

References 31 publications

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“…RV is primarily transmitted by respiratory droplets, but can cross the placental barrier by inducing necrosis of the syncytiotrophoblast layer [ 107 , 141 ]; transplacental transmission occurs in 50% of pregnancies complicated by RV infection, and this risk rises to nearly 90% when maternal infection occurs in the first trimester [ 106 , 107 ]. Congenital RV infection is associated with a wide range of ocular disorders, auditory problems, cardiovascular defects (in particular, patent ductus arteriosis), microcephaly, meningitis, encephalitis, speech disorders, motor defects, and autism [ 107 , 142 ].…”

Section: Clinical Implications Of the Gut Microbiome In Pregnancymentioning

confidence: 99%

Maternal Microbiome and Infections in Pregnancy

et al. 2020

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Pregnancy induces unique changes in maternal immune responses and metabolism. Drastic physiologic adaptations, in an intricately coordinated fashion, allow the maternal body to support the healthy growth of the fetus. The gut microbiome plays a central role in the regulation of the immune system, metabolism, and resistance to infections. Studies have reported changes in the maternal microbiome in the gut, vagina, and oral cavity during pregnancy; it remains unclear whether/how these changes might be related to maternal immune responses, metabolism, and susceptibility to infections during pregnancy. Our understanding of the concerted adaption of these different aspects of the human physiology to promote a successful pregnant remains limited. Here, we provide a comprehensive documentation and discussion of changes in the maternal microbiome in the gut, oral cavity, and vagina during pregnancy, metabolic changes and complications in the mother and newborn that may be, in part, driven by maternal gut dysbiosis, and, lastly, common infections in pregnancy. This review aims to shed light on how dysregulation of the maternal microbiome may underlie obstetrical metabolic complications and infections.

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Section: Clinical Implications Of the Gut Microbiome In Pregnancymentioning

confidence: 99%

Maternal Microbiome and Infections in Pregnancy

et al. 2020

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“…also reported predominance of PDA (86.8%) and ASD (50%) among the CRS patients with cardiac defects. 15 They noted that tubular-type PDA was higher in CRS patients (16%) than the non-CRS-PDA patients (3%). 15 The common cardiac defects of CRS infants from different studies are summarized in Appendix .…”

Section: Discussionmentioning

confidence: 95%

“…Among the cardiac defects, pulmonary artery stenosis (PAS), patent ductus arteriosus (PDA) and ventricular septal defects (VSD) were the most reported cardiac defects. 10 , 11 , 12 , 13 , 14 , 15 , 16 The phenotypical profile of cardiovascular malformations in CRS cases in India is understudied 17 and underscores the need for multicentric studies. The current study aimed to estimate the proportion of congenital heart defects (CHD) among laboratory confirmed CRS cases and describe the spectrum of cardiac defects.…”

Section: Introductionmentioning

confidence: 99%

Profile of cardiac lesions among laboratory confirmed congenital rubella syndrome (CRS) infants: a nationwide sentinel surveillance, India, 2016–22

Gunasekaran,

Shanmugasundaram,

Santhanam

et al. 2023

The Lancet Regional Health - Southeast Asia

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“…CC with CHD is often reported in rare syndromes with well-defined genetic or chromosomal mutations or in syndromes resulting from intrauterine infection, such as OFCD syndrome caused by BCOR mutations [ 10 ], recurrent rearrangements of chromosome 1q21.1 [ 28 ], Down's syndrome [ 14 ], and congenital rubella syndrome [ 15 ]. BCOR acts as a pivotal multisystem transcriptional regulator during early embryogenesis.…”

Section: Discussionmentioning

confidence: 99%

“…Copy number variation (CNV), leading to the deletion or duplication of functional DNA fragments, is one of the main genetic mechanisms underlying CHD. In addition, some monogenic diseases, CNV syndromes, and intrauterine infection-related diseases involve concurrent cataract and heart defects, such as oculo-facio-cardio-dental syndrome (OFCD) caused by BCOR mutations [ 10 ], FBXL4 -related encephalomyopathic mitochondrial DNA depletion syndrome by FBXL4 mutations [ 11 ], Sengers syndrome caused by AGK mutations [ 12 ], Nance-Horan syndrome caused by NHS mutations [ 13 ], Down’s syndrome caused by trisomy 21 [ 14 ], and congenital rubella syndrome caused by rubella virus intrauterine infection [ 15 ]. The frequent co-occurrence of CC and heart defects prompted us to speculate whether the two defects share a common aetiological basis.…”

Section: Introductionmentioning

confidence: 99%

Clinical and genetic findings in patients with congenital cataract and heart diseases

Song

et al. 2021

Orphanet J Rare Dis

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Background Congenital cataract (CC) and congenital heart disease (CHD) are significant birth defects. In clinical practice, the concurrence of CC and CHD is frequently observed in patients. Additionally, some monogenic diseases, copy number variation (CNV) syndromes, and diseases associated with intrauterine infection involve both cataract and heart defects. However, little is known about the association between CC and CHD. Here, we characterised the demographic, clinical, and genetic features of patients with CC and heart defects. Methods Medical records for 334 hospitalised patients diagnosed with CC were reviewed. Demographic and clinical features of patients with CC with and without CHD were compared. Clinical and genomic information for patients with ‘cataract’ and ‘cardiac defects’ were reviewed from Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources (DECIPHER). Microarray-based comparative genomic hybridisation and whole-exome sequencing were performed in 10 trio families with CC and CHD to detect de novo genomic alterations, including copy number variants and single nucleotide changes. Results In a retrospective analysis of 334 patients with CC over the past 10 years at our hospital, we observed a high proportion of patients (41.13%) with CHD (including innocent CHD, which reported as left-to-right shunt in echocardiography test). The CC with CHD group had higher incidences of preterm birth and Down’s syndrome than the CC without CHD group. Atrial septal defect was the most frequent heart defect. A total of 44 cases with cataracts and heart diseases were retrieved from Database of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources (DECIPHER). In total, 52 genomic alterations were reported, 44% of which were de novo germline variants. In the 10 trio families with CC and CHD, we found de novo CNVs responsible for two well-known chromosomal disorders and identified a novel pathogenic mutation in GJA8 responsible for CC. Conclusions We observed significant associations between CHD and CC in our 10-year patient cohort. Based on the cohort and data from DECIPHER, developmental syndromes in some patients were due to genetic defects, thus explaining the concurrence of CC and CHD. Additionally, we detected de novo mutations as an independent cause of cataracts. Our findings suggest that developmental syndromes in patients with CC deserve more attention in clinical practice by ophthalmologists.

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Characteristics of Patent Ductus Arteriosus in Congenital Rubella Syndrome

Cited by 6 publications

References 31 publications

Maternal Microbiome and Infections in Pregnancy

Maternal Microbiome and Infections in Pregnancy

Profile of cardiac lesions among laboratory confirmed congenital rubella syndrome (CRS) infants: a nationwide sentinel surveillance, India, 2016–22

Clinical and genetic findings in patients with congenital cataract and heart diseases

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