Ventricular septal defects are one of the most common congenital cardiac malformations and can be associated with many types of congenital and acquired heart disease.

iniencephaly is a rare kind of neural tube defect that is classified into two types of iniencephaly apertus and iniencephaly clausus. this anomaly could be diagnosed prenatally by obstetric ultrasonography and terminated by therapeutic abortion; however, it could be undiagnosed until birth similar to our case due to the abnormal position of the fetus or lack of experience of the sonographer. du...

Congenital heart defects are the most common malformation, and are the foremost causes of mortality in the first year of life. Among congenital heart defects, conotruncal defects represent about 20% and are severe malformations with significant morbidity. Insulin gene enhancer protein 1 (ISL1) has been considered a candidate gene for conotruncal heart defects based on its embryonic expression p...

background: some congenital defects can be prevented in the pregestational stage. however, many health professionals are not prepared to provide counselling to couples regarding the same. objective: this study aimed to assess the performance of doctors and nurses from a primary health-care unit in florianopolis, brazil, in preventing birth defects in the preconception period based on the recomm...

bifid cardiac apex is a rare anomaly of human hearts. we report of the case of a 34-year-old man with a previous history of ventricular septal defect (vsd) and subvalvular pulmonary stenosis. he had undergone pulmonary commissurotomy and vsd closure 22 years before he was referred to our center for evaluation of progressive dyspnea. transthoracic echocardiography revealed atrial septal defect (...

Holt Oram Syndrome (HOS) falls in rare prevalence category with probability of 0.7 100,000 live births. It is a autosomal dominant multiple malformation syndrome characterized by abnormalities affecting hands, wrists, arms,congenital heart defects and/or conduction problems. Genetic mutations observed TBX5 gene attributed as the main cause HOS. Our patient his late 40s was diagnosed Syndrome. H...

We present an interactive algorithm to segment the heart chambers and epicardial surfaces, including the great vessel walls, in pediatric cardiac MRI of congenital heart disease. Accurate whole-heart segmentation is necessary to create patient-specific 3D heart models for surgical planning in the presence of complex heart defects. Anatomical variability due to congenital defects precludes fully...

Substantial experimental and epidemiological data have highlighted the interplay between nutritional and genetic factors in the development of congenital heart defects. Retinoic acid (RA), a derivative of vitamin A, plays a key role during vertebrate development including the formation of the heart. Retinoids bind to RA and retinoid X receptors (RARs and RXRs) which then regulate tissue-specifi...

Congenital heart diseases are traditionally considered to be multifactorial in pathogenesis resulting from environmental and genetic interactions that determine penetrance and expressivity within a genetically predisposed family. Recent evidence suggests that genetic contributions have been significantly underestimated. However, single gene defects occur only in a minority of cases, and multige...

Congenital heart defects are a growing public health concern worldwide. As the world population continues to rise, surpassing 7 billion, so does the need for pediatric congenital heart surgery centers across the globe. Newly emerging centers in developing countries face a unique predicament; they encounter large numbers of uncorrected congenital heart disease in children alongside significant l...