Results 31 to 40 of about 41,590 (263)

The Congenital Malformation of the Interatrial Septum—A Review of Its Development and Embryology with Clinical Implications

Journal of Developmental Biology
The development process of the heart and cardiovascular system is fundamental in human development and highly regulated by genetic factors. This process needs to be highly regulated to prevent malformations.
Rui Caetano Oliveira, Paula Martins, Maria de Fátima Martins   +2 more
doaj   +1 more source

Transcatheter closure of Ventricular Septal defects in Malta : initial experience [PDF]

, 2005
Ventricular septal defects (VSD) consist of deficiencies of the wall separating the two ventricles. VSDs are the commonest congenital cardiac defects. Small VSDs rarely require intervention, however, larger defects cause ventricular volume overload with ...
Aquilina, Oscar, DeGiovanni, Joseph V., Fenech, Albert, Formosa Gouder, Mireille, Grech, Victor E., Magic, Jadran, Manche, Alexander   +6 more
core  

Human gene copy number spectra analysis in congenital heart malformations [PDF]

, 2012
The clinical significance of copy number variants (CNVs) in congenital heart disease (CHD) continues to be a challenge. Although CNVs including genes can confer disease risk, relationships between gene dosage and phenotype are still being defined.
Bick, David P., Broeckel, Ulrich, Goetsch, Mary A., Harris, Susan, Hidestrand, Mats, Mahnke, Donna K., Mitchell, Michael, Pelech, Andrew N., Simpson, Pippa, Stamm, Karl D., Struble, Craig, Tomita-Mitchell, Aoy, Tuffnell, Maureen E., Tweddell, James S.   +13 more
core   +2 more sources

ELABELA Targets Mitochondria to Modulate Heart Development

Advanced Science, EarlyView.
The role of peptide ELABELA (ELA) in cardiomyocyte apoptosis and congenital heart disease (CHD) is unclear. ELA deficiency caused cardiomyocyte apoptosis and CHD. A novel ELA‐APJ‐AKT‐BCL2/BAX axis in regulating mitochondrial function and contributing to CHD pathogenesis was established.
Jian Wang, Qingjie Wang, Zhikang Xu, Shuang Zhou, Yue Zhou, Junjie Yang, Lingfeng Tong, Zhuo Meng, Mei Yang, Wen Zhao, Tie Yang, Hualin Wang, Jun Zhang, Rubin Tan, Lei Wang, Yuqiang Huang, Bin Zhou, Sun Chen, Bing Zhang, Jinxiang Yuan, Jianyuan Zhao, Alex F. Chen, Kun Sun   +22 more
wiley   +1 more source

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   +1 more source

Simultaneous transcatheter closure of intralobar pulmonary sequestration and patent ductus arteriosus in a patient with infantile Scimitar syndrome

Türk Kardiyoloji Derneği Arşivi, 2015
Scimitar syndrome is a rare disease associated with a right lung sequestration vascularised by arteries arising from the abdominal aorta and abnormal venous drainage into the inferior vena cava. The infantile form is generally presented with severe heart
Eyup Aslan, Ibrahim Cansaran Tanidir, Murat Saygi, Sertac Hanedan Onan, Alper Guzeltas   +4 more
doaj   +1 more source

Self- and proxy-reported impaired social interaction in young adults with simple congenital heart defects

Frontiers in Pediatrics, 2023
BackgroundSimple Congenital Heart Defects such as septal defects constitute a large proportion of Congenital Heart Defects. New research has demonstrated more co-morbidities than previously thought. In particular, co-morbidities involving neurocognitive,
Sara Hirani Lau-Jensen, Sara Hirani Lau-Jensen, Benjamin Asschenfeldt, Lars Evald, Vibeke E. Hjortdal, Vibeke E. Hjortdal   +5 more
doaj   +1 more source

Tessier number 30 clefts with congenital heart defects [PDF]

, 2015
Introduction: Midline cleft of mandible, classified as Tessier 30 clefts is extremely rare, with less than 100 reported cases in the latest studies. Variations in severity and associated malformations have been reported before. Case Presentation: In this
Aminolsharieh Najaf, S., Hasheminejad, R., Mirfazeli, A., Shafee, A., Tafreshi, M.   +4 more
core   +1 more source

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

Incidence and Types of Congenital Heart Diseases among Children in Sulaimani Governorate

Kurdistan Journal of Applied Research, 2017
Congenital heart diseases (CHD) are common causes of cardiovascular morbidity and mortality among young children and adolescents. It is the most common form of structural congenital defects.
Niaz Kamal, Nasih Othman, Aso Salih
doaj   +1 more source