Congenital Diseases Presentation
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Congenital Diseases By: Laurence Malana Jr.
Congenital Heart Diseases Cystic Fibrosis Hemolytic Newborn Disease
Congenital Heart Disease
Congenital heart disease is a type of defect or malformation in one or more structures of the heart or blood vessels that occurs before birth. Congenital heart defects may produce symptoms at birth, during childhood, and sometimes not until adulthood.
Causes
In the majority of people, the cause of congenital heart disease is unknown. However, there are some factors that are associated with an increased chance of getting congenital heart disease. These risk factors include:
Genetic or chromosomal abnormalities in the child such as Down syndrome.
Causes
Taking certain medications or alcohol or drug abuse during pregnancy.
Maternal viral infection, such as rubella (German measles) in the first trimester of pregnancy.
Epidemiology
The risk of having a child with congenital heart disease is higher if a parent or a sibling has a congenital heart defect , the risk increases from eight in 1,000 to 16 in 1,000.
Symptoms
Shortness of breath. Limited ability to exercise. Cyanosis. Fast breathing and poor feeding. Poor weight gain. Recurrent lung infections.
Diagnosis
Congenital heart disease is often first detected when your doctor hears an abnormal heart sound or heart murmur when listening to your heart.
Diagnosis
Depending on the type of murmur your doctor hears, he or she may order further testing such as:
o Chest X-ray o o lectrocardiogram
Treatment
Treatment is based on the severity of the congenital heart disease. Some mild heart defects do not require any treatment. Others can be treated with medications, procedures, or surgery. Most adults with congenital heart disease should be monitored by a heart specialist and take precautions to prevent endocarditis (a serious infection of the heart valves) throughout their life.
Heart Defects
Pat ent Duct us Art eriosus
Heart Defects
At rial Sept al Defect
Heart Defects
Vent ricular Sept al Defect
Heart Defects
Aort ic St enosis
Cystic Fibrosis
Also known as CF, mucovoidosis, or mucoviscidosis.
A hereditary disease affecting the exocrine (mucous) causing progressive disability due to multisystem failure. Cystic fibrosis makes kids sick by disrupting the normal function of epithelial cells, cells that make up the sweat glands in the skin and that also line passageways inside the lungs, liver, pancreas, and digestive and reproductive systems.
Causes
CF is caused by a mutation in the gene, cystic fibrosis transmembrane conductance regulator (CFTR). When the CFTR protein is defective, epithelial cells can't regulate the way chloride (part of the salt called sodium chloride) passes across cell membranes. This disrupts the essential balance of salt and water needed to maintain a normal thin coating of fluid and mucus inside the lungs, pancreas, and passageways in other organs. The mucus becomes thick, sticky, and hard to move.
Causes Normally, mucus in the lungs traps germs, which are then cleared out of the lungs. But in CF, the thick, sticky mucus and the germs it has trapped remain in the lungs, which become infected.
In the pancreas, thick mucus blocks the channels that would normally carry important enzymes to the intestines to digest foods. When this happens, the body can't process or absorb nutrients properly, especially fats. Kids with CF have problems gaining weight, even with a normal diet and a good appetite.
Symptoms A blocked small intestine at birth, which prevents the baby from passing his or her first stool. Very salty sweat or skin. Diarrhea. Not growing or gaining weight the way that other children do. Breathing problems, lung infections, a cough that does not go away, and wheezing.
Symptoms
Other symptoms may also develop in childhood such as:
Clubbing (rounding and flattening) of the fingers.
Diagnosis
Cystic fibrosis may be diagnosed by many different categories of testing including those such as, newborn screening, sweat testing, or genetic testing . But even when genetic tests confirm CF, there's still no way to predict beforehand whether a specific child's CF symptoms will be severe or mild. Genetic testing can also be done on a child after birth, and can be performed on parents, siblings, and other relatives who are considering having a family.
Management
When kids are first diagnosed with CF, they may or may not have to spend some time in the hospital, depending on their condition. If they do, they'll have diagnostic tests, especially baseline measurements of their breathing (lung function) and a nutritional assessment. Before they leave, their doctors will make sure that their lungs are clear and that they've started a diet with digestive enzymes and vitamins that will help them to gain weight normally. Afterward, they'll probably see their doctor for follow-up visits at least once every 1 to 3 months.
Hemolytic Newborn Disease Hemolytic Disease of the Newborn is also called erythroblastosis fetalis. This condition occurs when there is an incompatibility between the blood types of the mother and baby. o "hemolytic" means breaking down of red blood cells o "erythroblastosis" refers to making of immature red blood cells o "fetalis" refers to fetus
Causes
HDN most frequently occurs when an Rh negative mother has a baby with an Rh positive father. When the baby's Rh factor is positive, like the father's, problems can develop if the baby's red blood cells cross to the Rh negative mother.
o Rh incompatibility o Blood type incompatibility
Symptoms
After birth: o A pale coloring may be evident, due to anemia. o Jaundice, or yellow coloring of amniotic fluid, umbilical cord, skin, and eyes may be present. The baby may not look yellow immediately after birth, but jaundice can develop quickly, usually within 24 to 36 hours.
Symptoms o The newborn may have an enlarged liver and spleen. o Babies with hydrops fetalis have severe edema (swelling) of the entire body and are extremely pale. They often have difficulty breathing.
Treatment
Before birth, options for treatment include intrauterine transfusion or early induction of labor when pulmonary maturity has been attained, fetal distress is present, or 35 to 37 weeks of gestation have passed. The mother may also undergo plasma exchange to reduce the circulating levels of antibody by as much as 75%.
Treatment
After birth, treatment depends on the severity of the condition, but could include temperature stabilization and monitoring, phototherapy, transfusion with compatible packed red blood, exchange transfusion with a blood type compatible with both the infant and the mother, sodium bicarbonate for correction of acidosis and/or assisted ventilation.
Congenital Heart Diseases Cystic Fibrosis Hemolytic Newborn Disease
Congenital Heart Disease
Congenital heart disease is a type of defect or malformation in one or more structures of the heart or blood vessels that occurs before birth. Congenital heart defects may produce symptoms at birth, during childhood, and sometimes not until adulthood.
Causes
In the majority of people, the cause of congenital heart disease is unknown. However, there are some factors that are associated with an increased chance of getting congenital heart disease. These risk factors include:
Genetic or chromosomal abnormalities in the child such as Down syndrome.
Causes
Taking certain medications or alcohol or drug abuse during pregnancy.
Maternal viral infection, such as rubella (German measles) in the first trimester of pregnancy.
Epidemiology
The risk of having a child with congenital heart disease is higher if a parent or a sibling has a congenital heart defect , the risk increases from eight in 1,000 to 16 in 1,000.
Symptoms
Shortness of breath. Limited ability to exercise. Cyanosis. Fast breathing and poor feeding. Poor weight gain. Recurrent lung infections.
Diagnosis
Congenital heart disease is often first detected when your doctor hears an abnormal heart sound or heart murmur when listening to your heart.
Diagnosis
Depending on the type of murmur your doctor hears, he or she may order further testing such as:
o Chest X-ray o o lectrocardiogram
Treatment
Treatment is based on the severity of the congenital heart disease. Some mild heart defects do not require any treatment. Others can be treated with medications, procedures, or surgery. Most adults with congenital heart disease should be monitored by a heart specialist and take precautions to prevent endocarditis (a serious infection of the heart valves) throughout their life.
Heart Defects
Pat ent Duct us Art eriosus
Heart Defects
At rial Sept al Defect
Heart Defects
Vent ricular Sept al Defect
Heart Defects
Aort ic St enosis
Cystic Fibrosis
Also known as CF, mucovoidosis, or mucoviscidosis.
A hereditary disease affecting the exocrine (mucous) causing progressive disability due to multisystem failure. Cystic fibrosis makes kids sick by disrupting the normal function of epithelial cells, cells that make up the sweat glands in the skin and that also line passageways inside the lungs, liver, pancreas, and digestive and reproductive systems.
Causes
CF is caused by a mutation in the gene, cystic fibrosis transmembrane conductance regulator (CFTR). When the CFTR protein is defective, epithelial cells can't regulate the way chloride (part of the salt called sodium chloride) passes across cell membranes. This disrupts the essential balance of salt and water needed to maintain a normal thin coating of fluid and mucus inside the lungs, pancreas, and passageways in other organs. The mucus becomes thick, sticky, and hard to move.
Causes Normally, mucus in the lungs traps germs, which are then cleared out of the lungs. But in CF, the thick, sticky mucus and the germs it has trapped remain in the lungs, which become infected.
In the pancreas, thick mucus blocks the channels that would normally carry important enzymes to the intestines to digest foods. When this happens, the body can't process or absorb nutrients properly, especially fats. Kids with CF have problems gaining weight, even with a normal diet and a good appetite.
Symptoms A blocked small intestine at birth, which prevents the baby from passing his or her first stool. Very salty sweat or skin. Diarrhea. Not growing or gaining weight the way that other children do. Breathing problems, lung infections, a cough that does not go away, and wheezing.
Symptoms
Other symptoms may also develop in childhood such as:
Clubbing (rounding and flattening) of the fingers.
Diagnosis
Cystic fibrosis may be diagnosed by many different categories of testing including those such as, newborn screening, sweat testing, or genetic testing . But even when genetic tests confirm CF, there's still no way to predict beforehand whether a specific child's CF symptoms will be severe or mild. Genetic testing can also be done on a child after birth, and can be performed on parents, siblings, and other relatives who are considering having a family.
Management
When kids are first diagnosed with CF, they may or may not have to spend some time in the hospital, depending on their condition. If they do, they'll have diagnostic tests, especially baseline measurements of their breathing (lung function) and a nutritional assessment. Before they leave, their doctors will make sure that their lungs are clear and that they've started a diet with digestive enzymes and vitamins that will help them to gain weight normally. Afterward, they'll probably see their doctor for follow-up visits at least once every 1 to 3 months.
Hemolytic Newborn Disease Hemolytic Disease of the Newborn is also called erythroblastosis fetalis. This condition occurs when there is an incompatibility between the blood types of the mother and baby. o "hemolytic" means breaking down of red blood cells o "erythroblastosis" refers to making of immature red blood cells o "fetalis" refers to fetus
Causes
HDN most frequently occurs when an Rh negative mother has a baby with an Rh positive father. When the baby's Rh factor is positive, like the father's, problems can develop if the baby's red blood cells cross to the Rh negative mother.
o Rh incompatibility o Blood type incompatibility
Symptoms
After birth: o A pale coloring may be evident, due to anemia. o Jaundice, or yellow coloring of amniotic fluid, umbilical cord, skin, and eyes may be present. The baby may not look yellow immediately after birth, but jaundice can develop quickly, usually within 24 to 36 hours.
Symptoms o The newborn may have an enlarged liver and spleen. o Babies with hydrops fetalis have severe edema (swelling) of the entire body and are extremely pale. They often have difficulty breathing.
Treatment
Before birth, options for treatment include intrauterine transfusion or early induction of labor when pulmonary maturity has been attained, fetal distress is present, or 35 to 37 weeks of gestation have passed. The mother may also undergo plasma exchange to reduce the circulating levels of antibody by as much as 75%.
Treatment
After birth, treatment depends on the severity of the condition, but could include temperature stabilization and monitoring, phototherapy, transfusion with compatible packed red blood, exchange transfusion with a blood type compatible with both the infant and the mother, sodium bicarbonate for correction of acidosis and/or assisted ventilation.
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