Two Brothers With Dextro-Transposition of the Great Arteries

2018 ◽  
Vol 11 (4) ◽  
pp. NP155-NP157 ◽  
Author(s):  
Joshua D. Kurtz ◽  
Katerina Boucek ◽  
Minoo Kavarana ◽  
Andrew M. Atz
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Genetic Testing ◽  
Congenital Heart ◽  
Cyanotic Heart Disease ◽  
Common Cause ◽  
Unclear Etiology

Dextro-transposition of the great arteries (d-TGA) is a common cause of cyanotic heart disease in neonates. Current thought is d-TGA is a sporadic occurrence in families with an unclear etiology. We describe a case of brothers with d-TGA. Genetic testing revealed that both are heterozygous for two gene variations that are associated with congenital heart disease.

scholarly journals COMPARISON OF SERUM VITAMIN A LEVELS BETWEEN NEONATES WITH CONGENITAL HEART DISEASE AND CONTROLS

2018 ◽  
Vol 11 (10) ◽  
pp. 130
Author(s):  
Saeed Abtahi ◽  
Zahra Mostafavian ◽  
Babak Behnam ◽  
Zahra Abbasi Shaye
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Vitamin A ◽  
Congenital Heart ◽  
Laboratory Data ◽  
Serum Vitamin ◽  
Analysis Of Covariance ◽  
Cyanotic Heart Disease ◽  
Significant Difference ◽  
The Mean

Objective: Prevention of congenital heart disease (CHD) has been hampered by a lack of information about the known modifiable risk factors for abnormalities in cardiac development. Vitamin A plays an important role in the periods of rapid cellular growth and differentiation, especially during pregnancy. Assuming a link between Vitamin A levels and congenital malformations, hypothetical different levels of Vitamin A were evaluated in neonates with and without CHD, in this study.Methods: In a case–control study that was conducted in 2015 in Mashhad/Iran, serum levels of Vitamin A in 30 neonates with CHD were compared to 30 healthy controls. The cases were diagnosed by echocardiography and recruited by convenience sampling. Demographic and laboratory data including age, sex, and serum Vitamin A level in each group were collected. Data analysis was done in SPSS V 20 software, and descriptive statistics, t-test, and analysis of covariance were used.Results: The mean age in cases was 11±3.4 days and in controls was 12.5±4.8 days. A total of 18 patients (60%) were male. In CHD patients, 10 cases (33.3%) had cyanotic heart disease, and 20 cases (66.7%) had non-cyanotic heart disease. The mean serum Vitamin A values in subjects (11.54±9.56 μg/dL) and controls (21.84±14.3 μg/dL) were significantly different, (p<0.05) and in case group was lower than the normal range.Conclusion: There was a significant difference in serum Vitamin A values in subjects and controls. Therefore, awareness of people about the importance of this vitamin in preventing CHD in children seems necessary.

scholarly journals Serum Metabolomics Profiling to Identify Novel Biomarkers for Cyanotic Heart Disease

2021 ◽  
Vol 14 (1) ◽  
pp. 81-94
Author(s):  
Suman Vimal ◽  
Surendra Kumar Agarwal ◽  
Surabhi Yadav ◽  
Gauranga Majumdar ◽  
Balraj Mittal ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Metabolic Profiles ◽  
Cyanotic Heart Disease ◽  
Metabolic Disturbances ◽  
Multivariate Statistical ◽  
Delay In Diagnosis ◽  
Novel Biomarkers

Congenital heart disease (CHD) is one of the most important causes of the death of children and young adults. Most of the patients do not survive past their teen years. This occurs either due to delay in diagnosis or no diagnosis at all. In recent times, several studies have shown the importance of biomarkers in the prediction of such defects. These biomarkers give the real time snapshot of the on going processes inside the cells and can significantly support the diagnosis of CHD. The present experiment was designed as an observational single centre pilot study to identify and establish the diagnostic metabolic signatures associated with the congenital heart diseases. Metabolic profiles of sera collected from 35 cyanotic congenital heart disease patients and 15 controls were obtained using high-resolution 1D 1H CPMG and NMR spectra. The metabolic profiles were compared using multivariate statistical analysis to identify the disease specific metabolic disturbances associated with cyanotic heart disease. The results show perturbation in several metabolites in cyanotic CHD patients versus controls. The discriminatory metabolites were further analysedwith area under receiver operating characteristic (AUROC) curve and identified five metabolic entities (i.e.valine, glucose, glutamine, creatinineand PUFA) which could differentiate cyanotic CHDs from controls with higher specificity.In conclusion, untargeted metabolic approach proved to be helpful in identifying and differentiating disease causing metabolites in cyanotic cases from controls.

scholarly journals Genetic Testing Protocol Reduces Costs and Increases Rate of Genetic Diagnosis in Infants with Congenital Heart Disease

2017 ◽  
Vol 38 (7) ◽  
pp. 1465-1470 ◽  
Author(s):  
Gabrielle C. Geddes ◽  
Donald Basel ◽  
Peter Frommelt ◽  
Aaron Kinney ◽  
Michael Earing
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Genetic Testing ◽  
Congenital Heart ◽  
Genetic Diagnosis ◽  
Testing Protocol

scholarly journals UTILITY OF GENETIC TESTING IN INFANTS WITH ISOLATED CONGENITAL HEART DISEASE

2017 ◽  
Vol 69 (11) ◽  
pp. 635
Author(s):  
Kaitlin L'Italien ◽  
Sara Fitzgerald-Butt ◽  
Janet Simsic ◽  
Kim McBride ◽  
Jessica Bowman ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Genetic Testing ◽  
Congenital Heart

Genetic Testing in Congenital Heart Disease

2013 ◽  
Vol 4 (1) ◽  
pp. 53-57 ◽  
Author(s):  
Kimberly Y. Lin ◽  
Lisa C. A. D’Alessandro ◽  
Elizabeth Goldmuntz
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Genetic Testing ◽  
Congenital Heart

YIELD OF GENETIC TESTING IN NEONATES WITH CONGENITAL HEART DISEASE AND ASSOCIATION WITH CLINICAL OUTCOMES

2019 ◽  
Vol 73 (9) ◽  
pp. 603
Author(s):  
Shannon Nees ◽  
Katharine Press Callahan ◽  
Sonya Besagar ◽  
Teresa Lee ◽  
Volkan Okur ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Genetic Testing ◽  
Clinical Outcomes ◽  
Congenital Heart

scholarly journals Growth and Developmental Status of Children with Congenital Heart Disease

2014 ◽  
Vol 40 (2) ◽  
pp. 54-57 ◽  
Author(s):  
AHm Nasiruzzaman ◽  
MZ Hussain ◽  
MA Baki ◽  
MA Tayeb ◽  
MN Mollah
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Social Impairment ◽  
Study Patient ◽  
Fine Motor ◽  
Cyanotic Heart Disease ◽  
Developmental Status ◽  
Gross Motor ◽  
Motor Delay

Cardiac malformations ore responsible for malnutrition, which may range from mild under nutrition to severe failure to thrive (FTT). Developmental delay was also associated with congenital heart disease. The aim of the study was to evaluate the nutritional status and developmental status of children with congenital heart disease. This cross sectional study was done in the department of Paediatrics, BSMMU and Dhaka Shishu Hospital from March'08 to February'09. Children, age 1 month to 6 years with congenital heart disease confirmed by echocardiogram (both cyanotic and acyanotic heart disease) were included in this study. Total 50 children included in this study. Mean age of study patient was 3.04 (±2.01SD) years. Ventricular septal defects were found as leading number (36%). Tetralogy of Fallot was found in 26% cases. According to WHO standard 38% children from acyanotic and 16%/rom cyanotic heart disease were severely stunted. Ten percent children from acyanotic and 04% from cyanotic heart disease were severely wasted. Gross motor and fine motor delay was present in 60% and 54% of children. Forty four percent children had speech delay and social impairment was present in 32% children. Severe stunting was more common than wasting in this study. Gross motor and fine motor delay was found the main developmental problem. DOI: http://dx.doi.org/10.3329/bmj.v40i2.18512 Bangladesh Medical Journal 2011 Vol.40(2): 54-57

scholarly journals Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics

2019 ◽  
Vol 27 (13) ◽  
pp. 1423-1435 ◽  
Author(s):  
Julie De Backer ◽  
Antoine Bondue ◽  
Werner Budts ◽  
Arturo Evangelista ◽  
Pastora Gallego ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Genetic Testing ◽  
European Society ◽  
Working Group ◽  
Congenital Heart ◽  
Human Genetics ◽  
Peripheral Vascular ◽  
Consensus Document ◽  
Aortic Pathology

Thanks to a better knowledge of the genetic causes of many diseases and an improvement in genetic testing techniques, genetics has gained an important role in the multidisciplinary approach to diagnosis and management of congenital heart disease and aortic pathology. With the introduction of strategies for precision medicine, it is expected that this will only increase further in the future. Because basic knowledge of the indications, the opportunities as well as the limitations of genetic testing is essential for correct application in clinical practice, this consensus document aims to give guidance to care-providers involved in the follow-up of adults with congenital heart defects and/or with hereditary aortic disease. This paper is the result of a collaboration between the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics. Throughout the document, the importance of correct counseling in the process of genetic testing is emphasized, indications and timing for genetic studies are discussed as well as the technical modalities of genetic testing. Finally, the most important genetic diseases in adult congenital heart disease and aortic pathology are also discussed.

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