Week 5 Discussion 1
A 16-year-old male presents for a sports participation examination. He has no significant medical history and no family history suggestive of risk for premature cardiac death. The patient is examined while sitting slightly recumbent on the exam table and the advanced practice nurse appreciates a grade II/VI systolic murmur heard loudest at the apex of the heart. Other physical findings are within normal limits, the patient denies any cardiovascular symptoms, and a neuromuscular examination is within normal limits. He is cleared with no activity restriction. Later in the season he collapses on the field and dies.
Diagnosis with the information presented is extremely difficult and would require further cardiac work up for definitive diagnosis and treatment. Systolic murmurs heard at the apex of the heart tend to be indicative of mitral valve disease. However, mitral valve dysfunction is very rare in children and tends to happen over a period of time. Mitral valve stenosis can be caused by rheumatic heart disease in asymptomatic children but produces a diastolic murmur (Huether, & McCance, 2012). Mitral regurgitation can produce a systolic murmur heard during systole but patient generally produce progressive symptoms of dyspnea on insertion and pulmonary edema (Huether, & McCance, 2012). The best conclusion based on the information provided in the scenario is that this teen had valvular aortic stenosis. I came to this diagnosis based on the following factors: no history of genetic factors, otherwise normal exam, systolic murmur, and sudden cardiac death. According to Huether, & McCance, (2012) Valvular aortic stenosis tends to be progressive in nature, may produce sudden episodes of cardiac ischemia, low cardiac output and occasionally sudden cardiac death. The scenario states that the patient was seated in a slightly recumbent position when the murmur was noted. In an article by Frank, & Jacobe, (2011) They state that the heart should be auscultated over the tricuspid, pulmonary, mitral, and aortic areas with the bell and diaphragm of the stethoscope while the patient is supine, sitting, and standing. Having the patient in a slightly recumbent position could change the location of the anatomical structures and also not allow for detection of changes in cardiac output with patient positioning.
An echocardiogram would be needed to definitively diagnose valvular aortic stenosis. This would not only provide a diagnosis but aid the clinician in assessing the degree of hypertrophy of the left ventricular wall. According to Huether, & McCance, (2012) the physiological consequence of severe aortic stenosis is hypertrophy of the left ventricular wall, which then may lead to increased end-diastolic pressure, which in turn causes hypertension in the pulmonary arteries and veins.
The treatment for valvular aortic stenosis is determined by the severity of symptoms. If discovered early the goal of treatment is often continued observation and monitoring of cardiac function. Baloon angioplasty is not favored in children with aortic stenosis as it often results in aortic regurgitation and these patients almost always require needing surgical valuotomies (Huether, & McCance, 2012). The ROSS procedure is the treatment of choice in many children. This involves replacing the stenosis aortic valve with the pulmonary valve and placing a homograft in the place of the pulmonary valve (Huether, & McCance, 2012). The benefit of the ROSS procedure is there is no need for anticoagulation and it defers mechanical valve replacement as long as possible (Huether, & McCance, 2012).
Impact of Genetics
Genetic factors play a large role in congenital heart disease. The incidence of congenital heart disease is three to four times higher in siblings of affected children and chromosome defects account for 6% of all cases of congenital heart defects (Huether, & McCance, 2012). In this clinical scenario if there had been a genetic predisposition or a chromosome abnormality the patient would have had a more intense cardiac work up throughout their life as not all defects present early in infants and children.
Congenital heart disease may or may not manifest itself in similar fashion to adult cardiac disease. It is important for the nurse practitioner and other health care professionals to e familiar with the different heart defects, age of onset, clinical manifestations and treatment. Especially, in otherwise healthy children the clinical manifestations may be small or undetectable which makes a thorough exam extremely important.
Frank, J., & Jacobe, K. (2011). Evaluation and management of heart murmurs in children. American Family Physician, 84(7), 793-800.
Huether, S. E., & McCance, K. L. (2012). Understanding pathophysiology (Laureate custom ed.). St. Louis, MO: Mosby.