![]() However, the heart defects associated with CCHD can also occur as part of genetic syndromes that have additional features. Researchers believe that single-gene mutations and copy number variation account for a relatively small percentage of all CCHD.ĬCHD is usually isolated, which means it occurs alone (without signs and symptoms affecting other parts of the body). However, it is unclear whether genes affected by copy number variation are involved in heart development and how having missing or extra copies of those genes could lead to heart defects. Studies have also suggested that having more or fewer copies of particular genes compared with other people, a phenomenon known as copy number variation, may play a role in CCHD. Most of the identified mutations reduce the amount or function of the protein that is produced from a specific gene, which likely impairs the normal formation of structures in the heart. Studies suggest that these genes are involved in normal heart development before birth. A variety of genetic and environmental factors likely contribute to this complex condition.Ĭhanges in single genes have been associated with CCHD. In most cases, the cause of CCHD is unknown. The heart defects classified as CCHD include coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia with intact septum, single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus. People with CCHD have one or more specific heart defects. Still others involve a combination of these structural abnormalities. Others affect the structure of the large blood vessels leading into and out of the heart (including the aorta and pulmonary artery). Some of the heart defects involve structures within the heart itself, such as the two lower chambers of the heart (the ventricles) or the valves that control blood flow through the heart. Adults with these heart defects have an increased risk of abnormal heart rhythms, heart failure, sudden cardiac arrest, stroke, and premature death.Įach of the heart defects associated with CCHD affects the flow of blood into, out of, or through the heart. However, long-term effects of CCHD can include delayed development and reduced stamina during exercise. Some people with treated CCHD have few related health problems later in life. However, most people with CCHD now survive past infancy due to improvements in early detection, diagnosis, and treatment. If untreated, CCHD can lead to shock, coma, and death. ![]() These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen (cyanosis). ![]() Individuals with CCHD usually require surgery soon after birth.Īlthough babies with CCHD may appear healthy for the first few hours or days of life, signs and symptoms soon become apparent. As a result, organs and tissues throughout the body do not receive enough oxygen, which can lead to organ damage and life-threatening complications. CCHD prevents the heart from pumping blood effectively or reduces the amount of oxygen in the blood. These abnormalities result from problems with the formation of one or more parts of the heart during the early stages of embryonic development. Patients with interrupted aortic arch are evaluated by a geneticist to determine if they have DiGeorge syndrome.Critical congenital heart disease (CCHD) is a term that refers to a group of serious heart defects that are present from birth. Patients with DiGeorge syndrome can have cranio-facial, immune and electrolyte abnormalities in addition to their congenital heart disease. Interrupted aortic arch is commonly seen as a result of a genetic chromosomal microdeletion (chromosome 22q11), often referred to as DiGeorge syndrome. The prognosis and treatment for the patient with IAA will be affected by the presence of any associated defects. Interrupted aortic arch usually occurs with other cardiac anomalies, such as ventricular septal defects, patent ductus arteriosus, transposition of the great arteries, aortic stenosis, truncus arteriosus, bicuspid aortic valve, and atrioventricular canal defects. If steps are not taken to keep the Patent Ductus Arteriosus (PDA) open, no oxygen will make its way to the lower body tissues and the patient will go into shock. An infant with this anomaly is usually quite sick immediately after birth.
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