ATR2205 30 Final Assignment: Write The Final Assignment

Atr2205 30 Final Assignmentthe Final Assignment Is To Write A Case Stu

The final assignment is to write a case study. You will choose a disease from a provided list; however, you can use some creativity in developing your case if you so desire. The format should include a case presentation with an introductory sentence, description of the complaint, history, relieving and aggravating factors, patient and family history, physical examination results, relevant diagnostic tests, diagnosis, possible treatments, prognosis, and references. Use at least 40 medical terms and abbreviations, with key terms bolded and underlined. The case should be between 200 and 500 words. Additionally, prepare a detailed list of 40 medical term definitions broken into parts with meanings. Ensure your report is comprehensive, using scholarly sources, and formatted according to APA guidelines. The assignment must be submitted to LopesWrite and include at least 3-8 scholarly citations. This exercise aims to demonstrate clinical reasoning, integration of medical terminology, and understanding of the disease process. For this assignment, focus on crafting an academic, well-structured case study that clearly correlates with the selected disease, addressing all elements listed in the assignment instructions.

Paper For Above instruction

Marfan syndrome is a connective tissue disorder characterized by mutations in the FBN1 gene encoding fibrillin-1, affecting multiple organ systems. Patients often present with distinctive skeletal, ocular, and cardiovascular features, with the cardiovascular system being particularly vulnerable due to aortic aneurysm and dissection risks. This case describes a 20-year-old male with Marfan syndrome who presented with acute chest pain, exertional dyspnea, and a history of tall stature and arachnodactyly, suggestive of the disease's classic phenotype.

Initially, he reported a sudden onset of severe anterior chest pain radiating to his back, accompanied by shortness of breath and palpitations. The pain intensified with physical activity and was alleviated by rest. His history revealed a diagnosis of Marfan syndrome confirmed through genetic testing at age 15, with prior routine echocardiograms showing progressive dilation of the ascending aorta. He was compliant with beta-blocker therapy, specifically atenolol, to reduce shear stress on the vessel walls. His family history included a father who died from an aortic dissection at age 45, emphasizing genetic predisposition.

On physical examination, the patient exhibited features typical of Marfan syndrome: a tall, slender build with long limbs, dolichostenomelia, pectus excavatum, hyperextensible joints, and positive wrist and thumb signs. His ophthalmological examination revealed myopia and early lens subluxation. Cardiovascular assessment indicated a systolic ejection murmur along the upper sternal border. Vital signs were notable for tachycardia (HR 110 bpm) and hypertension (BP 160/100 mmHg). No neurological deficits were observed.

Pending diagnostic tests included an emergent transthoracic echocardiogram, which demonstrated aneurysmal dilation of the ascending aorta measuring 5.5 cm. A CT angiogram confirmed the dissection extending from the ascending aorta into the arch, with involvement of branch vessels. Laboratory studies revealed elevated inflammatory markers, but no signs of infection. Genetic testing reaffirmed pathogenic FBN1 mutations. These findings led to a diagnosis of acute Type A aortic dissection secondary to Marfan syndrome.

Management included urgent surgical intervention with ascending aortic repair and possible valve replacement. Blood pressure control was prioritized using intravenous beta-blockers to reduce aortic wall stress, alongside vasodilators to maintain optimal perfusion. Postoperative care involved intensive monitoring for complications such as re-dissection, bleeding, or heart failure. Long-term treatment encompassed continued beta-blockers or angiotensin receptor blockers, regular imaging to monitor aortic dimensions, and multidisciplinary follow-up involving cardiology, ophthalmology, and genetics. Lifestyle modifications, including activity restriction and blood pressure management, were essential for prognosis improvement.

The general prognosis for Marfan syndrome hinges on timely diagnosis, effective management of cardiovascular risks, and surgical intervention when necessary. With advances in medical therapy and surgical techniques, life expectancy has significantly increased, though risks of aortic rupture or dissection remain prevalent without strict monitoring and adherence to treatment protocols.

References

• Journal of Medical Genetics, 47(7), 481–485. https://doi.org/10.1136/jmg.2009.078071
• The Lancet, 379(9825), 959–970. https://doi.org/10.1016/S0140-6736(10)62137-7
• Current Opinion in Cardiology, 27(6), 580–587. https://doi.org/10.1097/HCO.0b013e328357dc72
• JACC: Cardiovascular Interventions, 7(3), 239–251. https://doi.org/10.1016/j.jcin.2013.09.008
• Current Cardiology Reports, 17(7), 57. https://doi.org/10.1007/s11886-015-0634-2

Medical Term Definitions

1. FBN1 gene: Fibrillin-1 gene—codes for fibrillin-1, a glycoprotein essential for connective tissue elasticity.
2. Connective tissue: Tissue that supports and structurally connects other tissues and organs.
3. Aneurysm: Abnormal dilation of a blood vessel, often risking rupture.
4. Dissection: A tear in the intimal layer of an artery, allowing blood to split the vessel wall layers.
5. Prothrombotic: Tendency to develop blood clots.
6. Systolic: Phase of the heartbeat when the heart contracts, ejecting blood.
7. Hypertension: Elevated blood pressure, increasing cardiovascular risk.
8. Arthropathy: Disease of the joints.
9. Myopia: Nearsightedness, a common refractive error.
10. Lens subluxation: Dislocation or malposition of the eye lens, often due to weak zonules.
11. Hyperextensible joints: Joints with an abnormal range of motion.
12. Aortopathy: Disease of the aorta affecting its structure and function.
13. Genetic mutation: Changes in DNA sequences that can cause disease.
14. Vascular therapy: Treatment aimed at preserving or repairing blood vessels.
15. Beta-blockers: Medications that reduce heart rate and blood pressure.
16. Vasodilators: Agents that widen blood vessels.
17. Double-blind: Study design where neither participants nor researchers know group assignments.
18. Prognosis: Predicted outcome of a disease.
19. Surgical repair: Procedure to fix structural damage in blood vessels.
20. Genetic counseling: Advice and testing for hereditary diseases.
21. Multidisciplinary: Involving multiple specialties in patient care.
22. Imaging modalities: Techniques like CT, MRI, echocardiography for visualization.
23. Transthoracic echocardiogram: Ultrasound imaging of the heart through the chest wall.
24. Computed tomography angiogram: CT imaging of blood vessels with contrast dye.
25. Pathogenic: Causing disease.
26. Shear stress: Force per unit area caused by blood flow on vessel walls.
27. Orthodontic: Relating to the correction of malpositioned teeth and jaws, not directly related but occasionally involved in syndromes.
28. Telemetry: Transmission of health data for remote monitoring.
29. Pericardium: The sac surrounding the heart.
30. Heterozygous: Having two different alleles at a gene locus.
31. Elective surgery: Planned surgical procedure, not emergency.
32. Ventricular: Pertaining to the ventricles of the heart.
33. Aortitis: Inflammation of the aorta.
34. Endovascular: Inside the blood vessel, often referring to minimally invasive procedures.
35. Myopathy: Disease affecting muscle tissue.
36. Marfan phenotype: The observable physical features characteristic of Marfan syndrome.
37. Elastic fibers: Components of connective tissue providing elasticity and resilience.
38. Elastin: The protein forming elastic fibers.
39. Genotype: An individual's genetic makeup.
40. Phenotype: Observable physical or biochemical traits derived from genotype.
41. Pathophysiology: Functional changes associated with disease.