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 The Impact of Prenatal Diagnosis of Complex Congenital Heart Disease on Neonatal Outcomes

2010 ◽  
Vol 31 (5) ◽  
pp. 587-597 ◽  
Author(s):  
Allison Levey ◽  
Julie S. Glickstein ◽  
Charles S. Kleinman ◽  
Stephanie M. Levasseur ◽  
Jonathan Chen ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Prenatal Diagnosis ◽  
Congenital Heart ◽  
Neonatal Outcomes ◽  
Complex Congenital Heart Disease ◽  
The Impact

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

The adaptation process of mothers raising a child with complex congenital heart disease

2018 ◽  
Vol 22 (4) ◽  
pp. 520-531 ◽  
Author(s):  
Jeong-Ah Ahn ◽  
Sunhee Lee
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Health Care Providers ◽  
Congenital Heart ◽  
Child Rearing ◽  
Complex Congenital Heart Disease ◽  
Adaptation Process ◽  
Care Providers ◽  
Impact Phase ◽  
The Impact

Mothers of children with congenital heart disease (CHD) tend to be concerned about their child’s normal life. The majority of these mothers tend to experience negative psychological problems. In this study, the adaptation process of mothers raising a child with complex CHD was investigated based on the sociocultural context of Korea. The data collection was conducted by in-depth interviews and theoretical sampling was performed until the data were saturated. The collected data were analyzed using continuous theoretical comparisons. The results of the present study showed that the core category in the mothers’ adaptation process was ‘anxiety regarding the future’, and the mothers’ adaptation process consisted of the impact phase, standing against phase, and accepting phase. In the impact phase, the participants emotionally fluctuated between ‘feelings of abandonment’ and ‘entertaining hope’. In the standing against phase, participants tended to dedicate everything to child-rearing while being affected by ‘being encouraged by support’ and ‘being frustrated by tasks beyond their limits’. In the accepting phase, the subjects attempted to ‘accept the child as is’, ‘resist hard feelings’, and ‘share hope’. Health-care providers need to develop programs that include information regarding CHD, how to care for a child with CHD, and effective child-rearing behaviors.

scholarly journals Impact of hepatopathy in pediatric patients after surgery for complex congenital heart disease

PLoS ONE ◽  
2021 ◽  
Vol 16 (3) ◽  
pp. e0248776
Author(s):  
Torben Kehl ◽  
Daniel Biermann ◽  
Andrea Briem-Richter ◽  
Gerhard Schoen ◽  
Jakob Olfe ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Organ Dysfunction ◽  
Congenital Heart ◽  
Heart Rhythm ◽  
Complex Congenital Heart Disease ◽  
Control Group ◽  
Heart Rhythm Disorders ◽  
The Impact

Patients undergoing complex pediatric cardiac surgery in early infancy are at risk of postoperative secondary end-organ dysfunction. The aim of this study was to determine specific risk factors promoting the development of peri- and postoperative hepatopathy after surgery for congenital heart disease. In this retrospective study, we identified 20 consecutive patients operated between 2011 and 2019 from our institutional cohort who developed significant postsurgical hepatic dysfunction. These patients were compared to a control group of 30 patients with comparable initial cardiac conditions and STS-EACTS risk score. Patients who developed hepatopathy in the intensive care unit have chronic cholestasis and decreased liver synthesis. The impact of postoperative hepatopathy on morbidity was marked. In six patients (30%), liver transplantation was executed as ultima ratio, and two (10%) were listed for liver transplantation. The overall mortality related to postoperative hepatopathy is high: We found nine patients (45%) having severe hepatopathy and mostly multiple organ dysfunction who died in the postoperative course. According to risk analysis, postoperative right and left heart dysfunction in combination with a postoperative anatomical residuum needing a re-operation or re-intervention in the postoperative period is associated with a high risk for the development of cardiac hepatopathy. Furthermore, postoperative complications (pleural effusion, heart rhythm disorders, etc.), postoperative infections, and the need for parenteral nutrition also raise the risk for cardiac hepatopathy. Further investigations are needed to reduce hepatic complications and improve the general prognosis of such complex patients.

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.

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