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Congenital disorders of glycosylation (CDG) are a family of inherited disorders caused by defects in the synthesis of glycans, glycoproteins or other glycoconjugates. Congenital disorders of glycosylation (CDG) are a family of inherited disorders caused by defects in the synthesis of glycans, glycoproteins or other glycoconjugates. Glycosylation of proteins is crucial for a proper organ morphogenesis and for an appropriate coagulation system functioning. The neurological system is commonly affected in this type of disorders but cases of CDG with normal neurological development have been recently described. The group of Experimental Hematology and Clinic Oncology of the University of Murcia (Spain) recently described a rare disorder of glycosylation (ALG12-CDG) as the cause of antithrombin deficiency in a patient of 19 years with a history of repaired ventricular septal defect.
On the other hand, population studies have shown an increased incidence of thromboembolic events in patients with congenital heart disease when compared to the general population. The identified genetic defects involved in the development of congenital heart diseases have variable or incomplete penetrance and in most cases the molecular basis is completely unknown.
The investigators postulate that a CDG might be behind the development of some forms of congenital heart disease and contribute to the greater prevalence of thromboembolic events in this patient population.
Observational Model: Case-Only, Time Perspective: Cross-Sectional
Congenital Heart Diseases
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Hospital Universitari Vall d'Hebron Research Institute
Published on BioPortfolio: 2015-07-22T11:37:42-0400
Congenital heart disease is one of the most common malformations in newborns. About 1% of newborns have cardiac malformations. Many need open heart surgery, which contributes substantial...
We aim to measure the impact of a transition program in congenital cardiology in terms of health-related quality of life.
The hypothesis of this study is a nutrition preoperatively in infants and children undergoing elective cardiac surgery with cardiopulmonary bypass leads to improvement in nutritional statu...
Children with congenital heart diseases (CHD) often show reduced health related physical fitness as well as limitations in gross and fine motor skills/development. Intervention programs in...
Congenital heart defects are seen in 0,8% of life births. In France this means more than 5000 newborns per year. The south-east region of France is particularly affected as a result of a h...
Preoperative planning for children with congenital heart diseases remains crucial and challenging. This study aimed to investigate the roles of three-dimensional printed patient-specific heart models ...
Less information is available on brain integrity in adults with congenital heart disease than on brain changes in newborns and children with heart defects. Nevertheless, the number of adults with cong...
Children with congenital heart diseases (CHDs) suffer from malnutrition because of nutritional deficiencies, being short stature the possible long-term consequence.
The purpose of this study was to evaluate the impact of congenital heart disease (CHD) on infants with congenital diaphragmatic hernia (CDH).
There is a paucity of data describing the day-to-day experiences of adult Australians personally living with or caring for a child born with congenital heart disease (CHD). Such data would be of great...
Occlusion of the outflow tract in either the LEFT VENTRICLE or the RIGHT VENTRICLE of the heart. This may result from CONGENITAL HEART DEFECTS, predisposing heart diseases, complications of surgery, or HEART NEOPLASMS.
Inflammation of the ENDOCARDIUM caused by BACTERIA that entered the bloodstream. The strains of bacteria vary with predisposing factors, such as CONGENITAL HEART DEFECTS; HEART VALVE DISEASES; HEART VALVE PROSTHESIS IMPLANTATION; or intravenous drug use.
Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES.
A congenital coronary vessel anomaly in which the left main CORONARY ARTERY originates from the PULMONARY ARTERY instead of from AORTA. The congenital heart defect typically results in coronary artery FISTULA; LEFT-SIDED HEART FAILURE and MITRAL VALVE INSUFFICIENCY during the first months of life.
Diseases characterized by pathological irregularities in the HEART CONDUCTION SYSTEM. They may be associated with other heart diseases and syndromes (e.g., BRUGADA SYNDROME; NEUROMUSCULAR DISEASE, HEART BLOCKS), isolated or may result from injuries. You can have a conduction disorder without having an arrhythmia, but some arrhythmias arise from conduction disorders. OMIM: 601144.
Congenital conditions are those which are present from birth. They include structural deformities or loss of function in organs such as the <!--LGfEGNT2Lhm-->heart, gut or skeletal system. They can be corrected by <!--LGfEGNT2Lhm-->surgery, m...
Cardiovascular disease (CVD)
Acute Coronary Syndromes (ACS) Blood Cardiovascular Dialysis Hypertension Stent Stroke Vascular Cardiovascular disease (CVD) includes all the diseases of the heart and circulation including coronary heart disease (angina...
Blood is a specialized bodily fluid that delivers necessary substances to the body's cells (in animals) – such as nutrients and oxygen – and transports waste products away from those same cells. In vertebrates, it is composed of blo...