All parents hope to have a healthy child. However, there are cases where a child may have a congenital heart defect. A child diagnosed with this devastating cardiovascular disease must be one of the worst news parents could ever get. With the advancement of science, early detections and interventions are in place to manage the disease. Proper management and treatment should be taken into consideration to avoid any complications. If left untreated, a congenital heart defect could lead to another disease called Eisenmenger Syndrome.
Eisenmenger Syndrome in Children
According to Freeborn and Holloway (2016), Eisenmenger Syndrome (ES) is an advanced form of pulmonary artery hypertension (PAH) that is associated with congenital heart defect. Congenital heart defects such as ventricular septal defect (VSD), patent ductus arteriosus (PDA),
Lowering pulmonary hypertension, bringing more oxygen to the lung tissues and ease the cyanosis are the primary treatment focus for patient with ES (Freeborn & Holloway, 2016). Treatments include medicine, oxygen, and phlebotomy. According to Baffa (2014), heart and lung transplant are the only available treatment for a severe ES once the condition develops. A child will be given with great caution medications such as calcium channel blockers, prostacyclin, and endothelin receptor antagonists to dilate blood vessels and lower pulmonary hypertension. The provider may also prescribe diuretics to decrease the blood volume in case heart failure develops. According to Stanford Children’s Health (2015), removing some blood (phlebotomy) twice a year could also be ordered by a provider to reduce the number of red blood cells when the symptoms are so severe, and the hematocrit is extremely high. According to El-Chami and Willis (2014), a child could get oxygen therapy while sleeping or resting, or
First and foremost, Eisenmenger syndrome was initially described in 1897 when German physician, Victor Eisenmenger, reported on a patient with symptoms of dyspnea and cyanosis from infancy that subsequently developed heart failure (Connolly, 2014). The postmortem description was revealed and a ventricular septal defect was discovered (El-Chami et al., 2014a). With that being said, this had been the first time that the link between a large congenital cardiac shunt defect and the development of pulmonary hypertension had ever been noted (El-Chami et al., 2014b). The normal heart has four chambers. The two upper chambers are separated from each other by the atrial septum (NORD, 2014a). The two lower chambers are known as ventricles and are separated from each other by the ventricular septum (NORD, 2014b).
“Hypoplastic left heart syndrome accounts for 9% of all critically ill newborns with congenital cardiac disease, causing the largest number of cardiac deaths in the first year of life.(2) ” HLHS is a severe heart defect that is present at birth. HLHS combines different defects that result in an underdeveloped left side of the heart. This syndrome is one of the most challenging and difficult to manage of all of the congenital heart defects. Multiple portions on the left side of the heart are affected including the left ventricle, the mitral and aortic valve, and the ascending aorta. These structures are greatly reduced in size, or completely nonexistent causing the functionality of the left heart to be reduced, or non-functional all together.
Sudden infant death syndrome ( SIDS) is the greatest cause of infant deaths ranging from ages one month to one year. Most of these deaths occur before the age of six months. Normally, any unexplainable infant death is considered to be due to SIDS. Numerous attempts have been made to discover the exact cause of this syndrome. However,the only known pathology is that SIDS is due to a dysfunction or abnormality in the cardiac and/or respiratory systems. To this point, an exact and definite cause has not been named. This paper will attempt to present several of the proposed and hypothesized causes of SIDS.
For example, heart and lung transplants. This is a solution if a patient’s hole in the heart cannot be healed or helped with another form treatment. Several different targeted therapies have been done to improve health of ES patients. Disease-targeting therapies have proven to be successful in Idiopathic Pulmonary Arterial Hypertension (IPAH) and have been analyzed to in their effectiveness against ES. Prostanoid therapy in patients with ES has also shown the possibility that therapy may improve oxygen saturation, exercise capacity, and even shows a decrease Pulmonary Vascular Resistance (PVR). This is backed by a study with eight patients that have ES, these results were after 3 months of therapy. Another study is being done in a method called Vasodilator therapy. In these case studies, a drug name prostacyclin improved hemodynamics sufficiently enough to ensure ES patients for surgery to repair the cardiac lesion. Other studies have shown that Phosphodiesterase Type-5 Inhibitors, were used in patients with ES. In these studies, observation over a six-month period allowed the researchers to see improvements in oxygen saturation and cardiopulmonary hemodynamics (Beghetti and Galiè, 2009). Research from these studies is also being combined with different medical treatment to target therapies and is it possible to reverse pulmonary vascular
According to Batshaw, Roizen, and Lotrecchiano (2013), patent ductus arteriosus (PDA) is “the persistence of a fetal passage permitting blood to bypass the lungs” (p. 745). This is an inherited heart condition in which the ductus, a small pathway between the pulmonary and the aortic, valves remain open. This cardiovascular problem usually occurs in low birth weight infants. The blood vessels usually naturally closes after birth (Batshaw et al., 2013, p. 96). It becomes atypical if it remains open after the neonatal period. The structure usually closes in typical developing newborns around the initial 24 hours, and anatomical closure is supposed to follow several weeks later (Stanford Children’s Health, 2015). At the point when the ductus arteriosus stays open, the blood from the oxygen-rich aorta blends with the oxygen-poor pulmonary artery causing the higher chance of blood pressure in the lung pathways (U. S. Department of Health and Human Services, 2011). Certain children who have patent ductus arteriosus may be given medication, relying upon the circumstance to standardize the blood and oxygen levels until surgery is performed. Doctor can treat this condition by providing pharmaceutical medicine, catheter-based procedures, and surgery (U. S. Department of Health and Human Services, 2011).
Individuals with trisomy 13 often have many abnormalities that can be major or minor in the development of a child in the womb. Due to the life-threatening medical problems, many children born with trisomy 13 die within the first few weeks or days after they are born. Only a few of children with this condition live past their first year after they are born. The condition is very difficult to discover until a child is born. Mainly because it involves brain and heart abnormalities that are life threatening. Poor diagnosis of patients with trisomy 13 has long been accepted and has been found to have many complex brain and heart malformations. The child may live longer with heart or brain surgery but it is still rare to live past the age of 3 months. Surgery is tried to be avoided the most because of the child
According to “Heart Disease and Marfan Syndrome” (n.d.) Marfan syndrome is caused by a change in the gene that controls how the body makes fibrillin, a part of connective tissue that contributes to its elasticity and strength. It is also stated that Marfan syndrome is mostly inherited from a parent, but 1 in 4 cases occurs when the patient has no known family history of the disease. To add, the condition occurs
Background Information: Briana is a bright & energetic little girl who was referred to the Wylie Center’s ASIP program by her Inland Regional Center Case Service Coordinator Stacy Shearer-Rivas. Briana currently lives at home with her parents and younger sister Mackenzie (age 3). Briana currently receives 22 hours per month of one to one behavior modification therapy in the home setting. Briana has been receiving these services since January 2012.
The emergency room visit of E.F. is almost two times a week with mostly complaints of shortness of breath, swelling and hyperkalemia and at times, positive ETOH.
Cardiofaciocutaneous syndrome may be generated through various genetic mutations. As mentioned before, there are four genes that can cause this condition to be brought about in an individual. The most frequent mutation of these is the BRAF gene, because it is responsible for approximately 75 to 80 percent of each case of the syndrome. The two genes, MEK1 and MEK2, are very much alike and together are the result of 10 to 15 percent of ...
Tetralogy of Fallot is a congenital heart disease which involves four different heart defects in one. The four different heart defects are a large ventricular septal defect (VSD), Pulmonary Stenosis, Right ventricular hypertrophy, and an overriding aorta. These congenital defects change the normal flow of blood thro...
Marfan syndrome (MFS) is a fairly common inherited connective-tissue disorder. The syndrome can be found in 1 in every 5000 births worldwide (Giarelli, Bernhardt, & Pyeritz, 2010). MFS has been recognized for more than 100 years, in fact it was speculated that Abraham Lincoln had the disorder (Amado & Thomas, 2002). There is still no current cure, but early recognition and intervention can play a key role in the prevention of the sudden cardiac complications (Midla, 2008). For those Marfan patients diagnosed the life expectancy is close to normal, yet tends to be under diagnosed (Pyrietz, 2000). The nurse should have a broader understanding of MFS since recognition is essential for the diagnosis. Since MFS is primarily an inherited disorder, it of equal importance that the nurse understands that a referral to a geneticist is an imperative n...
Wellen’s Syndrome patients have the very narrow left anterior descending artery in their heart. This puts them at an increased risk of Myocardial Infarction or Cardiac Arrest. Typical symptoms for Wellen’s Syndrome are chest pain upon exertion. Radiating pain to the jaw, neck, and shoulder, nausea and vomiting,
Angelman Syndrome is a rare genetic disorder characterized by neurological and developmental issues. Dr. Harry Angelman discovered the syndrome in 1965. It was formerly called “Happy Puppet Syndrome” due to the clinical features possessed by those affected. Dr. Angelman observed those affected as appearing normal upon birth but eventually showing signs of development disabilities. Angelman Syndrome mainly targets the nervous system and can be detected in infants as early as six months. Typically, the first noticeable sign is usually feeding problems or a delay in development. It is caused by a deletion or mutation, such as translocation, in Chromosome 15, long arm q, band 12. Some references note the affected region as bands 11.2-13. This area encodes for the UBE3A gene. Usually, the body uses information from both copies of a gene. The activity of each gene copy is dependent on whether it was passed from your mother or from your father. This parent-specific gene activity is called imprinting. In a few instances, only one copy of a gene pair is active. For the UBE3A gene, only the maternal copy is active in the brain. This is an example of genomic imprinting in which the body only recognizes or requires one copy to be active. In Angelman Syndrome, the body only recognizes the maternal copy of chromosome 15. However, there have been a few rare incidences in which uniparental disomy was the cause of acquiring the syndrome. This occurs when both copies of chromosome 15 were inherited from the paternal side.
Hinkle, Janice, and Kerry Cheever. “Management of Patients with Chronic Pulmonary Disease." Textbook of Medical-Surgical Nursing, 13th Ed. Philadelphia: Lisa McAllister, 2013. 619-630. Print.