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Genetic Insights into Congenital Cardiac Septal Defects—A Narrative Review

Biology
Congenital heart diseases (CHDs) are a group of complex diseases characterized by structural and functional malformations during development in the human heart; they represent an important problem for public health worldwide.
Jorge L. Cervantes-Salazar, Nonanzit Pérez-Hernández, Juan Calderón-Colmenero, José Manuel Rodríguez-Pérez, María G. González-Pacheco, Clara Villamil-Castañeda, Angel A. Rosas-Tlaque, Diego B. Ortega-Zhindón   +7 more
doaj   +4 more sources

Parental cigarette smoking and the risk of congenital heart septal defects

Medicina (Lithuania), 2010
The objective of this study was to determine the association between parental cigarette smoking and the risk of congenital heart septal defects in Kaunas infant population in 1995–2005. Material and methods.
Virginija Dulskienė, Renata Kučienė
exaly   +2 more sources

CHD7 mutations are not a major cause of atrioventricular septal and conotruncal heart defects

American Journal of Medical Genetics, Part A, 2014
Since 2004, CHD7 mutations have been a known cause of CHARGE (Coloboma, Heart defects, Atresia of choane, Retardation of growth and development, Genital hypoplasia, Ear anomalies) syndrome, but the full clinical spectrum of CHD7 mutations is only now ...
Nicole Corsten-Janssen, Wilhelmina S Kerstjens-Frederikse, Lies H Hoefsloot   +2 more
exaly   +3 more sources

High-risk genes involved in common septal defects of congenital heart disease

Gene, 2022
The septation defect is one of the main categories of congenital heart disease (CHD). They can affect the septation of the atria leading to atrial septal defect (ASD), septation of ventricles leading to ventricular septal defect (VSD), and formation of ...
Nallur B Ramachandra
exaly   +2 more sources

DNA Methylation Levels of the TBX5 Gene Promoter Are Associated with Congenital Septal Defects in Mexican Paediatric Patients

Biology, 2022
The TBX5 gene regulates morphological changes during heart development, and it has been associated with epigenetic abnormalities observed in congenital heart defects (CHD).
Esbeidy García-Flores, José Manuel Rodríguez-Pérez, Verónica Marusa Borgonio-Cuadra, Gilberto Vargas-Alarcón, Juan Calderón-Colmenero, Juan Pablo Sandoval, José Antonio García-Montes, Víctor Manuel Espinoza-Gutiérrez, Juan Gerardo Reyes-García, Benny Giovanni Cazarín-Santos, Antonio Miranda-Duarte, Armando Gamboa-Domínguez, Nonanzit Pérez-Hernández   +12 more
doaj   +1 more source

Generation of a TBX5 homozygous knockout embryonic stem cell line (WAe009-A-45) by CRISPR/Cas9 genome editing

Stem Cell Research, 2021
Holt-Oram syndrome (HOS), which is caused by genetic changes in the TBX5 gene, affects the hands and heart. HOS patients have heart defects, including atrial septal defects (ASD), ventricular septal defects (VSD) and heart conduction disease.
Tiantian Zhao, Rui Bai, Fujian Wu, Wen-Jing Lu, Jun Zhang   +4 more
doaj   +1 more source

Sox9 Expression in the Second Heart Field; A Morphological Assessment of the Importance to Cardiac Development with Emphasis on Atrioventricular Septation

Journal of Cardiovascular Development and Disease, 2022
Failure to form the septal structures that separate the left and right cardiac chambers results in defects that allow shunting of blood from one side of the heart to the other, leading to the mixing of oxygenated and de-oxygenated blood.
Raymond N. Deepe, Jenna R. Drummond, Renélyn A. Wolters, Emily A. Fitzgerald, Hannah G. Tarolli, Andrew B. Harvey, Andy Wessels   +6 more
doaj   +1 more source

Hypoxia Induced DNA Damage in Children with Isolated Septal Defect and Septal Defect with Great Vessel Anomaly of Heart [PDF]

Journal of Clinical and Diagnostic Research, 2014
Background and Aim: In Congenital Heart Disease (CHD), shunting of blood occurs through the anatomical defects which lead to mixing of oxygenated and deoxygenated blood.
Vidya G., Suma H.Y., Vishnu Bhat B., Parkash Chand, Ramachandra Rao K.   +4 more
doaj   +1 more source

Evolution of surgery of ventricular septal defect closure [PDF]

Ķazaķstannyṇ Klinikalyķ Medicinasy, 2022
A ventricular septal defect is one of the foremost prevalent congenital heart defects, accounting for around 20% of all congenital heart malformations.
Akkerbez Adilbekova, Shukhrat Marasulov, Bakhytzhan Nurkeyev, Saken Kozhakhmetov   +3 more
doaj   +1 more source

Partial ventricular septal defect (Pacman(R) Heart) [PDF]

European Journal of Echocardiography, 2008
Complete ventricular septal defects (VSD) can be congenital (estimated prevalence 0.5% in live births) (Roguin N, et al. High prevalence of muscular ventricular septal defect in neonates. J Am Coll Cardiol 1995;26:1545-1548) or may be a complication of acute myocardial infarction (estimated incidence in the era of thrombolysis 0.2%) [Crenshaw BS, et al.
Pujol, E, Morales, M, Roelandt, Jos, Perez, MJ, Masia, R, Sala, J, Geleijnse, Marcel   +6 more
openaire   +3 more sources