scholarly journals What have we learned from 691 prenatal chromosomal microarrays for ventricular septal defects?

2019 ◽  
Vol 99 (6) ◽  
pp. 757-764 ◽  
Author(s):  
Idit Maya ◽  
Amihood Singer ◽  
Hagith Yonath ◽  
Adi Reches ◽  
Shlomit Rienstein ◽  
...  
Keyword(s):  
Ventricular Septal Defects ◽  
Septal Defects ◽  
Chromosomal Microarrays

Results after repair of partial atrio-ventricular septal defects: A 50-year single-center experience

2011 ◽  
Vol 59 (S 01) ◽  
Author(s):  
A Neagoie ◽  
G Aleksieva ◽  
R Sodian ◽  
W Schiller ◽  
R Kozlik-Feldmann ◽  
...  
Keyword(s):  
Single Center ◽  
Ventricular Septal Defects ◽  
Septal Defects ◽  
Single Center Experience

Delayed Closure of Multiple Muscular Ventricular Septal Defects in an Infant after Coarctation Repair and a Hybrid Procedure�A Case Report

2011 ◽  
Vol 14 (1) ◽  
pp. 67 ◽  
Author(s):  
Ireneusz Haponiuk ◽  
Maciej Chojnicki ◽  
Radosaw Jaworski ◽  
Jacek Juciski ◽  
Mariusz Steffek ◽  
...  
Keyword(s):  
Septal Defect ◽  
Color Doppler ◽  
Hybrid Approach ◽  
Ventricular Septal Defects ◽  
Color Doppler Echocardiography ◽  
Septal Defects ◽  
Coarctation Repair ◽  
Step Procedure ◽  
The Right ◽  
Delayed Closure

There are several strategies of surgical approach for the repair of multiple muscular ventricular septal defects (mVSDs), but none leads to a fully predictable, satisfactory therapeutic outcome in infants. We followed a concept of treating multiple mVSDs consisting of a hybrid approach based on intraoperative perventricular implantation of occluding devices. In this report, we describe a 2-step procedure consisting of a final hybrid approach for multiple mVSDs in the infant following initial coarctation repair with pulmonary artery banding in the newborn. At 7 months, sternotomy and debanding were performed, the right ventricle was punctured under transesophageal echocardiographic guidance, and the 8-mm device was implanted into the septal defect. Color Doppler echocardiography results showed complete closure of all VSDs by 11 months after surgery, probably via a mechanism of a localized inflammatory response reaction, ventricular septum growth, and implant endothelization.

scholarly journals First report of polymorphisms in MTRR, GATA4, VEGF, and ISL1 genes in Pakistani children with isolated ventricular septal defects (VSD)

2021 ◽  
Vol 47 (1) ◽  
Author(s):  
Sumbal Sarwar ◽  
Farah Ehsan ◽  
Shabana ◽  
Amna Tahir ◽  
Mahrukh Jamil ◽  
...  
Keyword(s):  
Heart Development ◽  
Heart Defects ◽  
Demographic Data ◽  
Gene Variant ◽  
Nucleotide Polymorphisms ◽  
Ventricular Septal Defects ◽  
First Report ◽  
Number Of Children ◽  
Septal Defects ◽  
Genotype Frequencies

Abstract Background Ventricular septal defects (VSDs) are malformations in the septum separating the heart’s ventricles. VSDs may present as a single anomaly (isolated/nonsyndromic VSD) or as part of a group of phenotypes (syndromic VSD). The exact location of the defect is crucial in linking the defect to the underlying genetic cause. The number of children visiting cardiac surgery units is constantly increasing. However, there are no representative data available on the genetics of VSDs in Pakistani children. Methods Two hundred forty-two subjects (121 VSD children and 121 healthy controls) were recruited from pediatric cardiac units of Lahore. The clinical and demographic data of the subjects were collected. A total of four SNPs, one each from MTRR, GATA4, VEGF, and ISL1 genes were genotyped by PCR-RFLP. Results The results showed that the minor allele (T) frequency (MAFs) for the MTRR gene variant rs1532268 (c.524C > T) was 0.20 and 0.41 in the controls and the cases, respectively, with the genotype frequencies 3, 35, 62% in the controls and 12, 59 and 29% in the cases for TT, CT, CC genotypes, respectively (allelic OR: 5.73, CI: 3.82–8.61, p-value: 5.11 × 10− 7). For the GATA4 variant rs104894073 (c.886G > A), the MAF for the controls and the cases was 0.16 and 0.37, respectively, the frequencies of AA, GA and GG genotypes were 2, 28, and 70% in the controls and 5, 64 and 31% of the cases (allelic OR: 3.08, CI: 2.00–4.74, p-value: 8.36 × 10− 8). The rs699947 (c.-2578C > A) of VEGF gene showed MAF 0.36 and 0.53 for the controls and cases, respectively, with the genotype frequencies 13, 42, and 45% in the controls and 22, 15, and 63% in the cases for the AA, CA, CC (allelic OR: 2.03, CI: 1.41–2.92, p-value: 0.0001). The ISL1 gene variant rs6867206 (g.51356860 T > C), the MAFs were 0.26 and 0.31 in the controls and cases, respectively. The genotype frequencies were 48, 52, 0% in the controls and 39, 61, 0% in the cases for TT, TC, CC genotypes (allelic OR: 0.27, CI: 0.85–1.89, p-value: 0.227). The MTRR, GATA4 and VEGF variants showed association while ISL1 variant did not appear to be associated with the VSD in the recruited cohort. Conclusion This first report in Pakistani children demonstrates that single nucleotide polymorphisms in genes encoding transcription factors, signaling molecules and structural heart genes involved in fetal heart development are associated with developmental heart defects., however further work is needed to validate the results of the current investigation.

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