• hypoplasia
  • 14-16 Mice homozygously deleted for Tbx1 die before or at birth with all the hallmark features seen in DGS/VCFS, including outflow tract defects of the heart, hypoplasia of the thymus and parathyroid glands, cleft palate, and facial abnormalities. (bmj.com)
  • CDH refers to a group of congenital defects in the structural integrity of the diaphragm associated with often lethal pulmonary hypoplasia and pulmonary hypertension. (nih.gov)
  • 3C syndrome, also known as CCC dysplasia, Craniocerebellocardiac dysplasia or Ritscher-Schinzel syndrome, is a rare condition, whose symptoms include heart defects, cerebellar hypoplasia, and cranial dysmorphism. (wikipedia.org)
  • The classical triad of symptoms that defines 3C syndrome includes certain heart defects, hypoplasia (underdevelopment) of the cerebellum, and cranial dysmorphisms, which can take various forms. (wikipedia.org)
  • Besides the cerebellar hypoplasia, cysts are commonly found in the posterior cranial fossa, the ventricles and the cisterna magna are dilated/enlarged, and Dandy-Walker malformation is present. (wikipedia.org)
  • It is commonly associated with severe defects of the heart and related abnormalities including pulmonary hypoplasia. (wikipedia.org)
  • abnormalities
  • They can have other defects too, such as abnormal heart valves ( pulmonary stenosis , aortic stenosis or mitral valve abnormalities) or abnormal arteries ( coarctation of the aorta or pulmonary atresia ). (seattlechildrens.org)
  • The diagnostic criteria for DGS/VCFS required that a patient have two or more of the major features associated with these disorders: congenital heart defects, immune defects (that is, absent thymus, immunodeficiency, or a history of frequent infections), palatal abnormalities and/or speech difficulties, facial dysmorphism, and a history of learning disabilities. (bmj.com)
  • It presents with similar craniofacial and heart abnormalities and can include Dandy-Walker phenotype, making it difficult to distinguish. (wikipedia.org)
  • Small chromosomal abnormalities also frequently lead to congenital heart disease, and examples include microdeletion of the long arm of chromosome 22 (22q11, DiGeorge syndrome), the long arm of chromosome 1 (1q21), the short arm of chromosome 8 (8p23) and many other, less recurrent regions of the genome, as shown by high resolution genome-wide screening (Array comparative genomic hybridization). (wikipedia.org)
  • In addition, NKX2-5 is associated with defects in the electrical conduction of the heart and TBX5 is related to the Holt-Oram syndrome which includes electrical conduction defects and abnormalities of the upper limb. (wikipedia.org)
  • In a normal functioning heart, the opening to the pulmonary valve has three flaps that open and close In congenital heart defects such as pulmonary atresia, one finds that these structural abnormalities can include the valves of the heart, as well as, the walls and arteries/veins near the heart muscle. (wikipedia.org)
  • situs inversus
  • Alfieri O, Crupi G, Vanini V, Parenzan L (1978) Successful surgical repair of double outlet right ventricle with situs inversus, 1-loop, 1-malposition and subaortic VSD in a 16 month-old patient. (springer.com)
  • Dextrocardia with situs inversus refers to the heart being a mirror image situated on the right side. (wikipedia.org)
  • When heart transplantation is required in a person with situs inversus, reconstruction of the venous pathways to accommodate a normal donor heart is a major, but not insurmountable, challenge. (wikipedia.org)
  • lungs
  • The pulmonary valve is surgically closed and an artificial conduit and valve are constructed from the right ventricle to the pulmonary bifurcation, allowing oxygen depleted blood to travel to the lungs for reoxygenation. (wikipedia.org)
  • There are many conditions of or affecting the human circulatory system - the biological system that includes the pumping and channeling of blood to and from the body and lungs with heart, blood and blood vessels. (wikipedia.org)
  • The valve is completely closed thereby obstructing the outflow of blood from the heart to the lungs. (wikipedia.org)
  • The systemic venous return goes directly to the lungs, by-passing the heart.Very young children with elevated pulmonary vascular resistance may not able to undergo the Fontan procedure. (wikipedia.org)
  • aortic arch
  • A targeted deletion of Tbx1 has been made and heterozygous mice were found to have aortic arch defects similar to those seen in the Df1/+ mice. (bmj.com)
  • aortic arch - the curved portion of the aorta (the large blood vessel that carries oxygen-rich blood away from the heart to the body). (nyhq.org)
  • birth defects
  • What birth defects were diagnosed? (birthdefectresource.com)
  • The animal models suggest a portion of congenital birth defects in humans might be prevented if fevers are treated through means including the judicious use of acetaminophen during the first trimester, says co-senior author Eric Benner, a neonatologist and assistant professor of pediatrics at Duke University. (futurity.org)
  • These findings suggest we can reduce the risk of birth defects that otherwise could lead to serious health complications requiring surgery. (futurity.org)
  • We have known since the early 1980s that fevers are associated with birth defects, but how that was happening has been a complete mystery," Benner says. (futurity.org)
  • coronary
  • Transcription regulator that plays a central role in heart morphogenesis and development of coronary vessels from epicardium, by regulating genes that are essential during cardiogenesis. (nih.gov)
  • cranial
  • Congenital heart and cranial facial defects are very common in live births, but most of the time they have unknown causes," says co-senior author Chunlei Liu, an associate professor of neuroscience and electrical engineering and computer sciences at the University of California, Berkeley. (futurity.org)
  • The heart defects and cranial dysmorphisms are heterogeneous in individuals who are all classed as having Ritscher-Schinzel syndrome. (wikipedia.org)
  • cardiovascular
  • He worked as a research engineer in the Cardiovascular Fluid Mechanics lab at Georgia Tech where he was involved in a 5-year grant that researched improvements for a congenial heart surgery known as the Fontan procedure. (deltacommunitycu.com)
  • live births
  • The findings, demonstrated in animal embryos, provide new leads as scientists continue investigating heart defects, which affect 1 percent of live births in the US, and cleft lip or palate, affecting about 4,000 infants per year. (futurity.org)
  • severe
  • Many children with the disorder die as infants due to severe congenital heart disease. (wikipedia.org)
  • The prognosis of ectopia cordis depends on classification according to three factors: Location of the defect Cervical Thoracic Thoracoabdominal Abdominal Extent of the cardiac displacement Presence or absence of intracardiac defects Some studies have suggested a better prognosis with surgery in cases of thoracoabdominal ectopia cordis or less severe pentalogy of Cantrell. (wikipedia.org)
  • blood
  • Although the VSD makes it possible for the infant's body to receive high-oxygen (red) blood, this blood is still diluted by low-oxygen (blue) blood, making the baby's heart work harder to pump the proper amount of oxygen to the body. (birthdefectresource.com)
  • The right ventricle ejects blood through the pulmonic valve into the pulmonary arteries. (bio-medicine.org)
  • ACE (angiotensin-converting enzyme) inhibitor - a medication that lowers blood pressure, making it easier for the heart to pump blood forward to the body. (nyhq.org)
  • aneurysm - a thin, weakened area in a blood vessel or area of the heart. (nyhq.org)
  • aortic valve - the valve that regulates blood flow from the heart into the aorta. (nyhq.org)
  • beta blocker - a medication that lowers blood pressure and heart rate. (nyhq.org)
  • blood pressure - pressure of blood against the walls of a blood vessel or heart chamber. (nyhq.org)
  • The problems may involve the interior walls of the heart, the heart valves, or the large blood vessels that lead to and from the heart. (wikipedia.org)
  • Some obvious exceptions that affect the function of the heart would be blood tests (electrolyte disturbances, troponins), decreased oxygen carrying capacity (anemia, hypovolemic shock), and coagulopathies. (wikipedia.org)
  • When this second opening does not exist, very little blood goes to the right ventricle, which is what causes it to be underdeveloped in PA-IVS, this defect can be determined before birth. (wikipedia.org)
  • Some factors that affect how well the child does include how well the heart is beating, and the condition of the blood vessels that supply the heart. (wikipedia.org)
  • disorders
  • Cardiology (from Greek καρδίᾱ kardiā, "heart" and -λογία -logia, "study") is a branch of medicine dealing with disorders of the heart as well as parts of the circulatory system. (wikipedia.org)
  • All cardiologists study the disorders of the heart, but the study of adult and child heart disorders are through different training pathways. (wikipedia.org)
  • Clinical cardiac electrophysiology is a branch of the medical specialty of cardiology and is concerned with the study and treatment of rhythm disorders of the heart. (wikipedia.org)