Cardiovascular Alterations: Causes, Symptoms, and Treatment

Case Scenario

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

Disease of the cardiac valves and structures mostly causes abnormal, turbulent flow of blood within the heart. This, in turn, causes murmurs. Careful auscultation of heart murmurs is a vital tool in the diagnosis of many cardiac conditions. Grade II/VI systolic murmurs heard loudest at the apex of the heart by the nurse is likely to be an indicator of mitral valve disease. However, mitral valve diseases occur rarely in children. Systolic murmurs heard during systole also tend to be indicative of mitral regurgitation. However, patients with mitral regurgitation usually result in progressive symptoms such as dyspnea on insertion and pulmonary edema (Armstrong, 2018). Given that the patient had no cardiovascular symptoms, he is not suffering from the two diseases of cardiovascular valves mentioned above. 

Based on the information given in the case scenario, the 16-year old male patient has vulva aortic stenosis. The rationale behind this diagnosis is that the patient has no significant medical history and no family history suggestive of risk for premature cardiac death. In other words, he had no history of genetic factors leading the systolic murmur and sudden cardiac death. Vulva aortic stenosis is a progressive disease and tends to result in exertional angina, syncope, and heart failure. These symptoms are frequently insidious at the onset. Syncope is as a result of low cardiac output, and together with heart failure it occasionally results in sudden cardiac death. In the scenario provided, the murmur was noted by the nurse as the patient was examined while sitting slightly recumbent on the exam table. Sitting in this position tends to change the location of the anatomical structures and also makes it impossible to note any changes in cardiac output when examining the patient while sitting in slightly recumbent position. 

To diagnose aortic valve stenosis, it is necessary to conduct a physical examination. One of the tests used to diagnose vulva aortic stenosis is an echocardiogram. This test uses sound waves to produce video images of the heart in motion (Mayo Clinic, N.d). Apart from providing diagnosis, an echocardiogram would also help assess the degree of hypertrophy of the left ventricular wall. Severe aortic stenosis results in hypertrophy of the left ventricular wall. This may result in increased end-diastolic pressure, which in turn results in hypertension in the pulmonary arteries and veins. 

Treatment

Treatment of aortic valve stenosis depends on the severity of the patient’s condition. If the patient shows no or mild signs, the physician may monitor the condition of the patient through regular check-ups and recommend healthy lifestyle changes as well as medications to treat the symptoms or reduce the risks of complications. In infants and children, a procedure called balloon valvuloplasty is used to repair aortic valve stenosis with a narrowed opening. However, the valves may narrow again in adults. To treat aortic valve stenosis, aortic valve replacement is required. This involves replacing the damaged valve with a mechanical valve or a biological tissue valve. However this treatment option is not effective compared to the ROSS procedure. The ROSS procedure (or the pulmonary autograft) cardiac surgery operation very effective, and it involves replacing the damaged valve with a pulmonary valve and placing homograft in it. 

Impact of Genetics on the Diagnosis and Prescription

Many cardiac diseases can be inherited. Genetic can control every aspect of the cardiovascular system. Thus, genetic variation can significantly affect the diagnosis and treatment of cardiac disease. This is because the genetic code is different for different patients. Thus, relatives of a deceased have higher chances of carrying an inherited disorder that puts them at similar risk. Genetics play a significant role in cardiac and heart diseases. According to Huether and McCance (2012), congenital heart defects are more prevalent in families having predisposing genetic factors. Huether and McCance state that the probability of occurrence of congenital heart disease is three to four times higher in siblings of affected children. They also state that chromosome defects account for 6% of all cases of congenital heart defects. 

Conclusion

If the patient in the scenario had genetic or chromosome defects, he would have more intense cardiac workup throughout his life. Therefore, it is crucial for medical practitioners and healthcare professionals to be familiar with cardiac defects, their diagnosis, and treatment. Through this, doctors or nurses can recommend significant lifestyle changes as well as medications to treat or prevent prevalence of heart diseases. 

References

Armstrong, G. (2018). Mitral Regurgitation. [Online]. Available at: https://www.msdmanuals.com/professional/cardiovascular-disorders/valvular-disorders/mitral-regurgitation . Accessed 24 th March 2019. 

Huether, S. E., & McCance, K. L. (2012). Understanding pathophysiology (Laureate custom ed.). St. Louis, MO: Mosby. 

Mayo Clinic. (N.d). Diagnosis. [Online]. Available at: https://www.mayoclinic.org/diseases-conditions/aortic-stenosis/diagnosis-treatment/drc-20353145 . Accessed 24 th March 2019.