Cardiovascular alterations are associated with considerable health risks among teenagers and, on some occasions, death. Importantly, they are often asymptomatic and are difficult to detect unless specifically sought for. The current paper contains a diagnosis of a patient based on a scenario, determines the necessary treatment, and points to the potentially important genetic factors.
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Considering the information available from the scenario, the most likely diagnosis of the patient is pulmonic stenosis (PS). The condition is caused by the insufficiency of the pulmonary valve which results in the resistance during the flow of blood from the right ventricle to the pulmonary artery (Huether & McCance, 2017). PS commonly produces a characteristic systolic murmur of moderate volume.
Other symptoms may be present, such as fatigue, shortness of breath, and rapid heart rate (Children’s National, n.d.). Nevertheless, their occurrence is most common in the most severe cases, which are relatively uncommon, whereas the majority of the impacted population has PS in the mild or moderate form, which are asymptomatic.
The treatment of PS depends on the severity and the progression of the condition. In most cases, the progression of PS stops at an early age, resulting in the mild form of the condition. In this case, no treatment is required (Cincinnati Children’s, n.d.). To determine the severity of PS, the patient is to be referred to echocardiography. In the case of moderate or severe pulmonic stenosis, balloon angioplasty is prescribed. The narrow area is dilated using a catheter with a special balloon device. The operation does not require open-heart surgery, is proven to be safe, and is sufficient in the overwhelming majority of cases (Herzog et al., 2016).
In older children, the procedure can be performed on an outpatient basis. The described treatment has been demonstrated to be efficient by numerous studies. In rare cases, the severity of the condition requires a surgical operation, such as pulmonary valvotomy or partial vulvectomy, that may be required. Both are open-heart procedures. Nevertheless, the outcomes of the patients subject to surgery are also highly positive (Gruber et al., 2013). It is important to understand that both the balloon dilation and surgical procedures result in an incompetent pulmonary valve. However, with the exceptions in the form of clinically significant incompetence, such an outcome is sufficient for toleration of the condition.
Limited evidence exists that pulmonic stenosis depends on genetic factors. Specifically, a chromosome abnormality can result in a higher occurrence of the condition in certain families. Since, as was explained above, the condition can remain asymptomatic in older children and adults, the patient’s parents may be unaware of the presence of cardiovascular alterations, which accounts for the lack of family history of premature cardiac death.
Admittedly, the only way to confirm the presence of a genetic link to the disease is to perform echocardiography on the parents to trace the familial occurrence. However, once PS is diagnosed and its severity is assessed, it may reveal important information about the likely progression of the condition in the patient. For instance, it would be possible to establish the necessity of a balloon angioplasty once the moderate PS is found in one of the parents. Therefore, it would be reasonable to search for a genetic link to identify the risks pertinent to the patient.
Pulmonic stenosis is a cardiovascular alteration associated with considerable health risks on rare occasions. Nevertheless, the risks can be effectively and safely prevented with balloon angioplasty or a surgical procedure. In some instances, genetic factors must be considered to facilitate timely and effective treatment and prevent adverse health effects.
Children’s National. (n.d.). Pediatric pulmonary stenosis. Web.
Cincinnati Children’s. (n.d.). Congenital pulmonary stenosis. Web.
Gruber, P. J., Wessels, A., Kubalak, S. W., Jacobs, J. P., Muralidaran, A., Reddy, V. M.,… Arruda, J. (2013). Pediatric cardiac surgery (4th ed.). Hoboken, NJ: Wiley.
Herzog, S., Dave, H., Schweiger, M., Hübler, M., Quandt, D., Kretschmar, O., & Knirsch, W. (2016). Effectiveness of balloon angioplasty in children with recurrent aortic coarctation depends on the type of aortic arch pathology. Journal of Interventional Cardiology, 29(4), 414-423.
Huether, S. E., & McCance, K. L. (2017). Understanding pathophysiology (6th ed.). St. Louis, MO: Mosby.