scholarly journals MLPA � first-tier Screening Assay in Newborns with Nonsyndromic Congenital Heart Disease

2020 ◽  
Vol 71 (2) ◽  
pp. 175-178
Author(s):  
Elena Moldovan ◽  
Valeriu Moldovan ◽  
Claudia Banescu ◽  
Lucian Puscasiu ◽  
Manuela Cucerea
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Copy Number ◽  
Congenital Heart ◽  
Correct Diagnosis ◽  
Neonatal Morbidity ◽  
Copy Number Variations ◽  
Molecular Testing ◽  
Study Cohort ◽  
Screening Assay

Congenital heart disease(CHD) is the most frequent malformative pathology seen in newborns, with an incidence of 10/1000 births, and is considered a major cause of neonatal morbidity and mortality. About one third of congenital heart disease cases are of genetic origin, particular copy number variations being described as possible nonsyndromic and syndromic congenital heart disease causes. Here, we set out to find whether the MLPA technique could be used as a first-tier screening assay in newborns with apparently nonsyndromic CHDs, and thus to genetically confirm the CHD diagnosis. The study cohort included 60 newborns diagnosed with apparently nonsyndromic congenital heart disease, recruited for a period of 18 months. MLPA analysis was performed using the SALSA MLPA P311 and P250 kits. 10 newborns (16.67%) showed known genetically relevant copy number variations, namely three patients with 22q11.21 deletion, that were diagnosed with DiGeorge syndrome, and seven patients with a probable single exon 8p23.1 duplication that will be subjected to further molecular testing, in order to correctly assess their diagnosis. We can conclude that the screening of patients with apparently nonsyndromic congenital heart disease may lead to their early and correct diagnosis, and thus them benefitting from the detection of clinically relevant copy number variations using the MLPA technique.

scholarly journals Rare copy number variations in congenital heart disease patients identify unique genes in left-right patterning

2011 ◽  
Vol 108 (7) ◽  
pp. 2915-2920 ◽  
Author(s):  
K. A. Fakhro ◽  
M. Choi ◽  
S. M. Ware ◽  
J. W. Belmont ◽  
J. A. Towbin ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Copy Number ◽  
Congenital Heart ◽  
Copy Number Variations ◽  
Unique Genes

New Insights into the Impact of Genome-Wide Copy Number Variations on Complex Congenital Heart Disease in Saudi Arabia

2020 ◽  
Vol 24 (1) ◽  
pp. 16-28 ◽  
Author(s):  
Majed J. Dasouki ◽  
Salma M. Wakil ◽  
Olfat Al-Harazi ◽  
Maarab Alkorashy ◽  
Nzioka P. Muiya ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Saudi Arabia ◽  
Heart Disease ◽  
Copy Number ◽  
Congenital Heart ◽  
Copy Number Variations ◽  
Complex Congenital Heart Disease ◽  
Genome Wide ◽  
The Impact

scholarly journals Genotyping of GATA4 Gene Variant (G296S) in Malaysian Congenital Heart Disease Subjects by Real-Time PCR High Resolution Melting Analysis

2013 ◽  
Vol 32 (2) ◽  
pp. 152-157
Author(s):  
Nora Fawzi ◽  
Ramachandran Vasudevan ◽  
Patimah Ismail ◽  
Mazeni Alwi ◽  
Ahmad Fazli Abdul Aziz ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
High Resolution ◽  
Congenital Heart ◽  
High Resolution Melting ◽  
New Technology ◽  
Cost Effective ◽  
Study Cohort ◽  
Hrm Analysis ◽  
Melting Analysis

Summary Background: Congenital heart disease (CHD) is the most common birth defect; however, the underlying etiology is unrecognized in the majority of cases. GATA-binding protein 4 (GATA4), a cardiac transcription factor gene, has a crucial role in the cardiogenesis process; hence, a number of heterozygote sequence variations were identified as a cause of CHD. G296S heterozygote variant is the most frequently reported GATA4 gene sequence alteration. This study aims to investigate the role of G296S variant of the GATA4 gene in Malaysian CHD subjects. Methods: We have investigated 86 Malaysian CHD subjects with cardiac septation defects for the presence of the GATA4 gene heterozygote variant (G296S) by the new technology of high resolution melting (HRM) analysis. Results: Genotyping of G296S (c.886G>A) by HRM analysis shows that all the sample genotypes were of the wild GG type genotype and the heterozygote mutant GA genotype was totally absent from this study cohort. Conclusions: The results of our study showed that the G296S variant of the GATA4 gene was not associated with the development of CHD in Malaysian subjects. The use of HRM analysis proved a cost-effective, high-throughput, specific and sensitive genotyping technique which eliminates the need for unnecessary sequencing.

Imaging-Based Wave Intensity Analysis: Applications in Congenital Heart Disease

2013 ◽  
Author(s):  
Giovanni Biglino ◽  
Hopewell N. Ntsinjana ◽  
Kim H. Parker ◽  
Silvia Schievano ◽  
Andrew M. Taylor
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Arterial Switch Operation ◽  
Small Population ◽  
Wave Intensity ◽  
Study Cohort ◽  
Intensity Analysis ◽  
Wave Intensity Analysis ◽  
Congenital Aortic Stenosis

Wave intensity analysis is a hemodynamic index evaluating the working condition of the heart in relation to the rest of the vasculature [1]. As such it carries valuable mechanistic information on ventriculo-arterial (VA) coupling. Its applications have ranged from studies of cardiac assist devices to fetal studies. Our group has proposed a way to derive wave intensity from phase-contrast magnetic resonance (PCMR) data [2]. We now suggest that this technique has a duple potential: (a) comparing patients against healthy subjects to investigate VA coupling and mechanistic changes related to surgery or devices, and (b) providing measures and indices to assess hemodynamic scenarios adding valuable mechanistic considerations. We aim to show both applications in the complex field of congenital heart disease. In the first instance, we will use this methodology to assess changes in wave speed and VA coupling in patients with transposition of the great arteries (TGA) repaired with arterial switch operation and palliated with atrial switch. In the second case, we will assess the potential of wave intensity-derived parameters for detecting diastolic dysfunction, and we selected a small population of patients with congenital aortic stenosis as a first suitable study cohort.

scholarly journals The Congenital Heart Disease Genetic Network Study: Cohort description

PLoS ONE ◽  
2018 ◽  
Vol 13 (1) ◽  
pp. e0191319 ◽  
Author(s):  
Thanh T. Hoang ◽  
Elizabeth Goldmuntz ◽  
Amy E. Roberts ◽  
Wendy K. Chung ◽  
Jennie K. Kline ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Genetic Network ◽  
Study Cohort

scholarly journals Contribution of Global Rare Copy-Number Variants to the Risk of Sporadic Congenital Heart Disease

2012 ◽  
Vol 91 (3) ◽  
pp. 489-501 ◽  
Author(s):  
Rachel Soemedi ◽  
Ian J. Wilson ◽  
Jamie Bentham ◽  
Rebecca Darlay ◽  
Ana Töpf ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Copy Number ◽  
Congenital Heart ◽  
Copy Number Variants
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