Congenital Heart Disease Essay
There also occur chromosomal rearrangements which are of different types, such as translocation, inversions and insertions. Trans locations represent the exchange of material between two non-homologous chromosomes.Congenital Heart Disease Essay Chromosomal re-arrangements can be described as balanced or unbalanced. In balanced re-arrangements chromosome materials which have been lost or gained does not appear in the analysis under light microscope whereas in unbalanced re-arrangements chromosomes are either lost or gained which results in chromosomal imbalance. This type of balanced or unbalanced re-arrangements is associated with phenotypic abnormality like birth defects (Brent, 2004). Single gene mutations They account for 6% of birth defects and they represent malformations and affect multiple systems (Young, 2005). It is important to study the inheritance pattern of these birth defects to give the families accurate genetic advice. Autosomal dominant disorder is caused due to mutations in one allele of an autosomal gene whereas in the autosomal recessive disorder mutation happens in both the allele of an autosomal gene. X-linked recessive disorder is caused due to the mutation in the genes on the X chromosome. Males are more frequently affected as they only have one normal copy of the X-linked gene which becomes mutated unlike in females.Congenital heart defects are heart problems present at birth. They happen when the heart does not develop normally before birth. About 8 out of every 1,000 infants are born with one or more heart or circulatory problems. Doctors usually do not know the cause of congenital heart defects, but they do know of some conditions that increase a child’s risk of being born with a heart defect.
Some of these conditions include congenital heart disease in the baby’s mother or father, diabetes in the mother, or the mother’s use of alcohol during pregnancy. Even if one or more of these conditions is present, it does not mean that the baby will be born with a heart defect. Also, babies can be born with heart defects even when none of these conditions are present. Rarely can families predict or prevent congenital heart defects. Doctors can usually detect most heart defects while the child is still very young. Some children live with a defect for years before it is diagnosed. In some cases, doctors can spot congenital heart defects before the baby is even born. They cannot diagnose all defects before birth though, because the heart continues to develop in the days after the baby is born.
Children with congenital heart defects may need to take antibiotic medicines before certain dental and surgical procedures. Taking antibiotics will protect against infective endocarditis. In addition, doctors will usually recommend medicines or surgery to treat the defect itself. The exact treatment depends on the type of defect.
There are many different types of congenital heart defects. More than one defect may be present at the same time. Some of the different types of heart defects are, Atrial septal defect, ventricular septal defect, and Atrioventricular canal defect. .Congenital Heart Disease Essay
Atrial septal defect is one of the more common heart defects. In this case there is a whole in the septum of the heart. When this defect is present blood flows through the hole from the left atrium to the right atrium, which increases the blood flow through the lungs.
This paper seeks to establish the etiology, embryology, incidences, pathophysiology, symptoms, diagnosis, treatment, nursing care, as well as the patient and family resources and quality of life for complex congenital heart disease patients. To achieve these objectives, both primary and secondary sources of information will be made use of. Primary sources include interviews conducted on doctors who are very well versed with the issue as well as professionals who operate homes which take care of such patients. Secondary information will largely come from books and articles touching on the subject as well as websites which provide support information for such patients and their families.
Genetic factors causing the disease include: rheumatic heart disease in the mother, Chromosome abnormalities, such as Down syndrome, trisomy 18 and 13, turner’s syndrome, cri du chat syndrome, wolf – Hirsh horn syndrome and Digeorge syndrome ( deletion 22q11). Genetic syndromes also make one more vulnerable to the condition. These include : Marfan syndrome, Smith-lemli-optiz syndrome, Ellis-van Creveld, Holt- Oram syndrome, Noonan syndrome, and Mucopolysaccharidoses. Environmental factors leading to the disease include: in take of substances such as lithium by the mother as well as Rubella virus. Embryology of the disease focuses on the errors in heart formation which lead to the disease. Incidences of the disease are on the rise with recent research indicating about twelve incidences per every one thousand live births. The pathophysiology of the disease involves an analysis of the effects of both left to right and right to left shunts. The effects include but not limited to : pulmonary vascular disease, pulmonary vasculature which causes hyperplasia of the vessel walls, hypertension and Congestive heart failure. Diagnosis methods are both prenatal and post natal. Prenatal diagnosis involves scans conducted on the mother before the child is born. Postnatal methods of diagnosis include: Electrocardiogram, Pulse oximetry, Chest x-ray, and Cardiac catheterization. Both medicinal and surgical procedures can be used to treat the disease. Nursing care for young ones with congenital heart disease involves basics such as feeding, giving medicines, watching and recording trouble signs, and encouraging them to get involved in their health care program. Congenital Heart Disease Essay Support groups for patients with the disease include: American Heart Association, Children’s Heart Institute, Children’s Hospital & Health System of Wisconsin, Children’s mercy Hospitals and Clinics, Congenital Heart Defect Online Hand book, Congenital Heart Defects (Texas Heart Institute), Congenital Heart Defects ( Texas Heart Institute)- in Spanish, Congenital Heart Information Network, Heart Centre Online, and Heart Institute for Children.
Congenital heart disease is a defect or malformation in the structure of the heart or vessels that supply it with blood. This defect occurs as the fetus develops in the uterus and is therefore present at birth (Pampel, 2004). This defect interferes with the normal flow of blood through the heart. Complex congenital heart disease requires immediate medical attention since it can be very fatal. Complex congenital heart disease can be attributed to both genetic and environmental factors. A pregnant woman who suffers rheumatic heart disease produces antibodies which act against the Ro and La auto antigens in the fetus (Pampel, 2004). The part of the Ro antigen targeted by the antibodies from the mother is called p200 protein. The more the number of antibodies produced against this protein, the more the damage to the heart of the fetus. This antibody – antigen reaction causes the inflammation and subsequent calcification of the cardiac system of the fetus hence damaging the heart structure (Calnan, 1991).
Researchers also have it that anti-seizure medication taken by a pregnant woman makes the fetus more vulnerable to congenital heart disease. Pregnant women who take lithium to treat depression, as well as those who have phenylketonuria (PKU) and do not strictly take the special diet prescribed to them predispose the fetus to the attack (Calnan, 1991). Women who contract the Rubella virus and those who get vaccinated against the same stand higher chances of giving birth to children with CHD. Other studies indicate that this condition has autosomal-dominant inheritance meaning that mothers who have the condition stand about fifty percent chances of passing it to the child (Kaplan, 2002). A number of Chromosome abnormalities can also result to CHD. These include: Down syndrome, trisomy 18 and 13, turner’s syndrome, cri du chat syndrome, wolf – Hirsh horn syndrome and Digeorge syndrome ( deletion 22q11). Genetic syndromes have also been shown to make one more vulnerable to the condition. These are: Marfan syndrome, Smith-lemli-optiz syndrome, Ellis-van Creveld, Holt- Oram syndrome, Noonan syndrome, and Mucopolysaccharidoses (Kaplan, 2002).Congenital Heart Disease Essay Errors at any stage in the embryological development of the heart can result in congenital heart disease. This development occurs between the third and the ninth week of the gestation period (American Heart [AH], 2010). The heart is formed when a group of cells join to form sheets of tissue, which then join to form a tube whose growth results in the formation of the atria and ventricles (AH, 2010). The resulting tissue undergoes twists and turns while the atria, ventricles and truncus undergo septation. The antrioventricular canal and conus align the portions of the heart in a manner that allows smooth blood flow. If any error occurs during this process, then heart complications such as the congenital heart disease result (AH, 2010).
Incidences of congenital heart disease are on the rise according to recent studies. Data from researchers in the western industrialized world for instance indicate that the incidence of the condition has increased from about three to five per every one thousand live births to about twelve per every one thousand live births. Some researchers though argue that this increase can be attributed to technological advances which have seen the invention of more sensitive detection methods (AH, 2010).
Left to right shunts is the commonest physiology associated with congenital heart disease. This occurs when oxygenated blood goes back to the lungs to get re-oxygenated. This return causes a redundancy in the circulation. This leads to an increased venous return from the lungs through the pulmonary veins to the left atrium as well as the left ventricle. This causes the left ventricle to experience volume overload (Larsen, 1993). In a nutshell, left to right shunt causes a volume overload on the left ventricle, as well as pulmonary circulation and reduced systematic output. Left to right shunt lesions cause physiological alterations at the ventricular or great artery level. Congestive heart failure can occur between week two and six as a result of a decrease in pulmonary vascular resistances which is accompanied by an increase in systemic vascular resistances as well as physiological nadir in the hemoglobin (Larsen, 1993). Increased left to right blood shunting ultimately results to pulmonary vasculature which causes hyperplasia of the vessel walls and subsequent hypertension (Kenneth, 1997). Congenital Heart Disease Essay
Ventricular septal defect is a defect which also occurs in patients with congenital heart disease. In this case, there is a left to right shunt across the ventricular level. During this shunting, blood from the left ventrical is ejected during systole to the pulmonary circulation. This blood causes a volume overload to the left atrium as well as the left ventricle (Kenneth, 1997). Patent ductus arteriosus is characterized by a left to right shunt during systole and diastole from the aorta to the pulmonary artery. Owing to the presence of higher pressure in the aorta as compared to that in the pulmonary artery, the left to right shunt gets continuous. This causes a volume overload on the left atrium as well as the left ventricle. A large degree of PDA results in pulmonary vascular disease (Larsen, 1993). Truncus arteriosus occurs whereby, the pulmonary arteries are joined to the aorta. Patients who suffer this condition experience higher occurrences of pulmonary hypertension and vascular disease (Larsen, 1993).
Right to left shunt occurs when the deoxygenated blood that goes to the lungs for oxygenation returns back to the body without reoxygenation. One condition associated with this is tetralogy of fallot. This is a condition occurring as a result of the presence of RV outflow obstruction. It results to a right to left shunt across the VSD (Hoffman, 2005). A person suffering from this condition is cyanotic as a result of paucity of pulmonary blood flow. This blood inadequacy results in a smaller left ventricle than the right one owing to a reduction in the pulmonary venous return (Hoffman, 2005).
Congenital heart disease is discovered in some cases when the mother undergoes a ultrasound scan during pregnancy. Other cases are not discovered during this scan and therefore they are discovered through symptoms when the baby is born (Hoffman,2005).Congenital Heart Disease Essay In other cases still, the new born doesn’t show symptoms of the condition until later years. Some people grow to adulthood without showing symptoms of the condition. Signs and symptoms of this disease include: recurrent lung infections, shortness of breath which is also rapid, fatigue especially during exercises, lack of appetite, low rate of weight gain, sweating while eating, weak pulse in babies and cyanosis color on the skin around the mouth, lips as well as the tongue (Niessen, 2008).
The diagnosis of congenital heart disease can be done before or after birth. Antenatal diagnosis is done through a fetal echocardiography which is a type of ultrasound scanner designed to create a picture of the sides of the heart chambers. This test is done in the course of regular antenatal examinations which come during the 18th and 20th week of pregnancy (Niessen, 2008).
Post natal diagnosis is compulsory if the baby presents with some of the signs of the disease such as blue color around the lips, feeding problems, slow rate of growth, etc. methods used during this diagnosis include: Electrocardiogram, a test that measures the heart’s electrical activity (Niessen, 2008). This method involves placing electrodes on the skin above the heart which are then connected to a computer. Electrical signals coming from the heart are then analyzed by the computer (Shanley, 2007).
Chest x-ray can also be used to detect the disease. This x-ray basically examines if there is excess amount of blood in the lungs or if the heart size is normal.Congenital Heart Disease Essay Paper Excess blood in the lungs and a larger heart are signs of the disease (Shanley, 2007). Pulse oximetry is also a detection method that measures the amount of blood present in the child’s blood. A special sensor is placed in the child’s fingertip, ear or toe which sends out light waves. Absorption of the light waves is checked via a computer since the absorption behavior can indicate the oxygen levels in the blood (Shanley, 2007). Cardiac catheterization as a detection method seeks to find out blood pumping behavior. A catheter is inserted in one of the major blood vessels in the groin. Its then pushed to the heart though the assistance of x-rays or MRI scanners. Blood pressure readings at different parts of the heart are then recorded by a small pressure monitor attached to the end of catheter (Larsen, 1993).
Treatment of this condition involves administering medicines which can make the heart beat regular incase its not. The medicines basically mitigate the symptoms before an operation to fix the problem is administered. These medicines include a prostaglandin inhibitor administered to a premature baby to assist in closing a patent ductus arteriosus (Niessen, 2008). Heart catheterization discussed under diagnosis can also be used to fix the problem. Surgery if necessary is advisable when the baby is strong enough to withstand it. Open heart surgery is carried out if the problem cannot be fixed using a catheter. This surgery aims at closing holes with the help of stitches or patches, repairing or replacing damaged heart valves, and repairing complex defects (Niessen, 2008). If the problem is too severe to repair, a transplant is recommended. The heart to be used is normally obtained through a donation by the family of a diseased child (AH, 2010). Congenital Heart Disease Essay
Nursing care for young ones with congenital heart disease involves basics such as feeding, giving medicines, watching and recording trouble signs, and encouraging them to get involved in their health care program (AH, 2010). Involving the child in the health care program would help them understand why they have a scar, why they need to take medicine, as well as the positive impact play can have to the general wellness of their heart. The child is also helped to understand the need to take certain nutrients such as boiled fish, Mediterranean diet and others which strengthen the heart (AH, 2010).
There are several support groups throughout the world for children with heart diseases. Mended little hearts for instance is a support group that helps families with such children (AH, 2010). The Mary bridge child life department offers pre-operative tours for children as well as families scheduled for treatments such as heart catheterization, and cardiothoracic surgery. We also have care pages which are free, private, as well as personalized WebPages pages which patients can visit to obtain any form of advice and care required (AH, 2010). These pages are available at multicare facilities so patients can always keep in touch for any care needed.Congenital Heart Disease Essay Paper A patient can post a question as far as care is concerned which is replied with messages of support (AH, 2010). The following is a list of such websites which one can visit for information regarding children’s heart care, diagnosis, treatment as well as support resources: American Heart Association, Children’s Heart Institute, Children’s Hospital & Health System of Wisconsin, Children’s mercy Hospitals and Clinics, Congenital Heart Defect Online Hand book, Congenital Heart Defects (Texas Heart Institute), Congenital Heart Defects ( Texas Heart Institute)- in Spanish, Congenital Heart Information Network, Heart Centre Online, and Heart Institute for Children (AH, 2010).
Children with congenital Heart disease have a poorer quality life than those who are healthy. Children with more severe complications have a very bad physical and physiological quality of life. For instance, such children are advised against getting involved in certain type of exercises hence they are not free to interact with their peers in every thing. Such children also end up with very poor psychological life as a result of limited social interactions with their peers (AH, 2010). Congenital Heart Disease Essay
In conclusion, this paper has discussed the etiology of congenital heart disease. Genetic factors causing the disease have included: rheumatic heart disease in the mother, Chromosome abnormalities, such as Down syndrome, trisomy 18 and 13, turner’s syndrome, cri du chat syndrome, wolf – Hirsh horn syndrome and Digeorge syndrome ( deletion 22q11). Genetic syndromes have also been shown to make one more vulnerable to the condition. These have included : Marfan syndrome, Smith-lemli-optiz syndrome, Ellis-van Creveld, Holt- Oram syndrome, Noonan syndrome, and Mucopolysaccharidoses. Environmental factors leading to the disease have included: in take of substances such as lithium by the mother as well as Rubella virus. Embryology of the disease has also been discussed with errors in heart formation being linked to the disease. Incidences of the disease have been seen to rise with recent research indicating about twelve incidences per every one thousand live births. Congenital Heart Disease Essay
The pathophysiology of the disease has been discussed with effects of both left to right and right to left shunts being analyzed. The effects have included but not limited to : pulmonary vascular disease, pulmonary vasculature which causes hyperplasia of the vessel walls, hypertension and Congestive heart failure. Diagnosis methods have included both prenatal and post natal. Postnatal methods have included Electrocardiogram, Pulse oximetry, Chest x-ray, and Cardiac catheterization. Both medicinal and surgical procedures for treating the disease have been discussed. Support groups for patients with the disease have included: American Heart Association, Children’s Heart Institute, Children’s Hospital & Health System of Wisconsin, Children’s mercy Hospitals and Clinics, Congenital Heart Defect Online Hand book, Congenital Heart Defects (Texas Heart Institute), Congenital Heart Defects ( Texas Heart Institute)- in Spanish, Congenital Heart Information Network, Heart Centre Online, and Heart Institute for Children. Congenital Heart Disease Essay
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