Case Study PDF

Tetralogy of Fallot *The slide/presentation should contain the following: Content Learning Objectives Functions of the System (*10 minutes for the system Concept Map) C using Concept Map Concept Map for the Case pres disorder Question and answer Required info as cited per topic/system & Other vital information relative to Case presentation (i.e. short video) *References (Minimum of 3 & no maximum at least 5 yrs inclusive of year 2025) Case Presentation Outline *25 minutes for the Case presentation I. Background II. Key findings/Discussion III. Conclusions IV. Interventions and plans V. Reason for presentation Introduction Tetralogy of Fallot (TOF) is a congenital heart defect characterized by four distinct anatomical abnormalities: ventricular septal defect (VSD), overriding aorta, right ventricular outflow tract obstruction (RVOTO), and right ventricular hypertrophy (Apitz et al., 2020). As one of the most common cyanotic heart defects, TOF accounts for approximately 7-10% of all congenital heart diseases (Hoffman & Kaplan, 2021). The condition arises from abnormal embryonic development of the heart, typically occurring between the 5th and 9th weeks of gestation, and is influenced by both genetic and environmental factors (Pierpont et al., 2020; Jenkins et al., 2021). Infants with TOF often present with cyanosis, shortness of breath, and clubbing of fingers and toes due to inadequate oxygenation of blood. The severity of symptoms varies depending on the degree of RVOTO and the size of the VSD, making early diagnosis through echocardiography and other imaging modalities critical for timely intervention (Anderson et al., 2021; Tworetzky & Wilkins-Haug, 2020). Recent studies have highlighted the importance of genetic factors in the pathogenesis of TOF, with mutations in genes such as NKX2-5 and GATA4 being implicated in its development (Blue et al., 2020). Additionally, environmental factors, such as maternal diabetes and exposure to certain teratogens, have been associated with an increased risk of TOF (Jenkins et al., 2021). Prenatal diagnosis through fetal echocardiography has become increasingly common, allowing for early detection and planning, which can significantly impact outcomes (Donofrio et al., 2020). Despite advances in understanding the etiology and diagnosis of TOF, the condition remains a significant cause of morbidity and mortality in pediatric cardiology, particularly in regions with limited access to specialized care (Marelli et al., 2021). Furthermore, the long-term implications of TOF extend beyond childhood, as survivors often face challenges related to residual lesions, arrhythmias, and neurodevelopmental issues (Valente et al., 2021). Learning Objectives (3-4 will do ig) 1. Identify the four key anatomical components of Tetralogy of Fallot and describe how each contributes to the pathophysiology of the condition. 2. Identify and explain the difference of the blood flow of a person with Tetralogy of Fallot and a person with a healthy heart. 3. Explain the causes, clinical signs and symptoms associated with Tetralogy of Fallot, including the role of cyanosis and other manifestations in diagnosis. 4. Present the preventative actions and the possible treatment for Tetralogy of Fallot. Cardiovascular System The cardiovascular system consists of the heart, blood vessels, and blood. Its primary function is to transport nutrients and oxygen-rich blood to all parts of the body and to carry deoxygenated blood back to the lungs. The heart: A muscular pump that forces blood around the body. A closed system of blood vessels: These vessels include: ○ Arteries: Vessels that carry blood away from the heart. ○ Veins: Vessels that bring blood back to the heart. ○ Capillaries: Tiny vessels that branch off from arteries to deliver blood to all body tissue Anatomical & Physiological Functions of the Heart (concept map) Pathophysiology What is ToF? (concept map) Tetralogy of Fallot (ToF) is one of the most common cyanotic congenital heart defects that affects the heart's structure. It is a conotruncal cardiac defect characterized by a large, anteriorly malaligned ventricular septal defect, an overriding aortic root, and narrowing of the subpulmonary and pulmonary valves. These abnormalities disrupt normal blood flow, preventing enough oxygen-rich blood from circulating throughout the body. The anatomical appearance of ToF Pulmonary stenosis,The pulmonary valve is more narrow than normal and does not open properly. This makes it harder for the right ventricle to pump blood to the lungs. This causes the baby to have low oxygen levels. Ventricular Septal Defect (VSD): A hole between the 2 bottom pumping chambers of the heart (ventricles). Right ventricular hypertrophy: The right part of the heart has to work harder. This causes the walls of the right pumping chamber (ventricle) to get thicker. This is called hypertrophy. Overriding of the aorta: In the normal heart, the aorta comes off the left ventricle. In TOF, the aorta sits between the right and left ventricles, over the VSD. In combination, these structural abnormalities lead to cyanosis, or blue discoloration of the systemic blood. In a person with tetralogy of Fallot, the four heart defects make it hard for enough blood to get oxygenated. This reduces the heart’s ability to pump oxygen-rich blood to the body, which is needed for organs and cells to work properly. As a result, the skin may appear blue because not enough oxygenated blood is flowing through the body. Babies with tetralogy of Fallot may experience “tet spells,” which are sudden, potentially life-threatening instances when the skin turns even more bluish, and they have trouble breathing. These usually happen when babies cry, eat, or have a bowel movement. During these episodes, more blood than usual may flow through the hole in the heart (VSD), which means even less oxygenated blood is reaching the body. Tet spells can sometimes cause fainting. Etiology What causes Tetralogy of Fallot? Tetralogy of Fallot develops when a baby’s heart doesn’t form properly during pregnancy. The exact cause of the defects is not fully understood, but it may be related to changes in genes or chromosomes. Children with certain genetic conditions, such as Down syndrome or DiGeorge syndrome, may have an increased risk of developing TOF. The likelihood of congenital heart defects, such as Tetralogy of Fallot (TOF), may also rise due to: Environmental influences, including smoking or the use of specific medications during pregnancy A family history of heart defects The presence of certain medical conditions during pregnancy, like diabetes or rubella What are the symptoms of tetralogy of fallot? A patient with tetralogy of fallot experience symptoms including: Bluish Skin Difficulty breathing while eating Shortness of breath A heart murmur Tet Spell Clubbed fingers or toes (when the fingertips or tips of the toes bulge and the nail beds become rounded) if the condition goes untreated for 2 to 3 years after birth Most cases are easily diagnosed at birth due to symptoms, cyanosis, or newborn screening for critical congenital heart disease. Causes Tetralogy of Fallot (TOF) occurs when a baby's heart does not form correctly in the womb, and while experts aren't certain of the exact cause, it may result from genetic or chromosomal changes, with children who have Down syndrome or DiGeorge syndrome being at higher risk. The risk of developing this congenital heart defect can also increase due to environmental factors like smoking or certain medications during pregnancy, family history, and specific medical conditions during pregnancy such as diabetes or rubella. Risk Factors The root cause of Tetralogy of Fallot (ToF) is unknown, but various factors could increase the risk of babies developing ToF including: Family History Having Virus During Pregnancy (ex. rubella) Drinking Alcohol Poor Diet Smoking Mother’s Age Older Than 35 Down Syndrome Complication Untreated Tetralogy of Fallot can lead to life-threatening complications, including disability or death by early adulthood. Complications may include: Infective Endocarditis Possible complications after surgery: Backward Blood Flow Through Heart Valve Irregular Heartbeats Persistent Heart Hole Changes in Heart Chamber Size Aortic Root Dilation Sudden Cardiac Death Prevention While prevention of the initial defect is not currently possible, genetic testing and screening may help for high risk pregnancies. To reduce birth defects risk: Get proper prenatal care Take multivitamin with folic acid Avoid smoking and drinking Get rubella vaccine Control blood sugar Manage health conditions Avoid harmful substances Check medications before intake Treatment Surgery in babies Temporary surgery: Some babies need a temporary shunt between arteries to improve blood flow to lungs before open-heart surgery. This shunt is removed during the final repair. Complete repair: Open-heart surgery is usually done in the first year of life to patch holes between chambers, repair/replace the pulmonary valve, and fix related issues. Surgery in Adults Surgery is typically necessary for adults who show symptoms of tetralogy of Fallot (TOF), with the most frequent operation being pulmonary valve replacement conducted with cardiopulmonary bypass support. For adult TOF patients, treatment generally involves scheduled elective surgical procedures Concept Map for the Case Presentation Disorder Center: Tetralogy of Fallot Pathophysiology: Pulmonary Stenosis → Low Pulmonary Blood Flow VSD → Oxygenated/Deoxygenated Mixing Overriding Aorta → Mixed Oxygen Levels in the Body Right Ventricular Hypertrophy → High Pressure in Right Ventricle Symptoms: Cyanosis → Bluish Skin Tet Spells → Sudden Cyanosis during Activity Shortness of breath → Especially during exercise or feeding in infants Heart murmur → Abnormal sounds due to blood flow through the VSD or pulmonary stenosis. Clubbed fingers or toes → the fingertips or tips of the toes bulge and the nail beds become rounded Causes/Risk Factors: Family history Having a virus during pregnancy (e.g. rubella) Drinking alcohol or Smoking during pregnancy Mother's age older than 35 Down syndrome or DiGeorge syndrome in the baby Treatment: Surgeries ○ Temporary repair or Palliative surgery (for babies) ○ Complete repair or Intracardiac Repair Prevention: Get proper prenatal care Take a multivitamin with folic acid Avoid smoking and drinking Get rubella vaccine Control blood sugar Tetralogy of Fallot: Explains Heart Defect and Repair (Video) https://youtu.be/8BJOUfycsxo?si=xIGRz0R0mw_ezikw Patient Presentation Biodata/Geographical data of the Patient Name: [Name Redacted] Age: 9 years old Gender: Female Date of Birth: February 23, 2001 Address: Florida, Kapalong, Davao del Norte, Philippines Civil Status: Single Father’s Name: [Name Redacted] Mother’s Name: [Name Redacted] Father’s Occupation: Farmer Mother’s Occupation: Housewife Admission Date/Time: May 28, 2010, at 3:45 PM Attending Physician: Dr. Gemma Maranian Diagnosis: Congenital heart defect, cyanotic type, suspected Tetralogy of Fallot (TOF) Present Illness The patient, a 9-year-old female, was brought to the hospital due to persistent cyanosis, exertional dyspnea, and clubbing of the fingers and toes. Her parents reported a long history of shortness of breath, particularly during physical exertion, and bluish skin discoloration that had been noticeable since infancy. Over time, the symptoms became more pronounced, with frequent "tet spells" (episodes of sudden cyanosis, breathlessness, and fainting). Upon physical examination, a harsh systolic murmur was detected over the left upper sternal border, suggesting right ventricular outflow tract obstruction. Birth History The patient was born full-term via normal spontaneous vaginal delivery at home, attended by a traditional birth attendant. Her birth weight was reported as average, and there were no immediate postnatal complications noted. However, her mother recalled that she had a bluish skin tone at birth, which was initially thought to be normal but persisted as she grew older. Family History The patient is the second of four siblings. There is no known family history of congenital heart disease, although both parents come from rural backgrounds with limited access to prenatal care. No consanguinity was reported. The family has no prior history of genetic disorders, but other siblings were not assessed for congenital anomalies. Treatment History Dosage Cefuroxime Sodium 520mg q8 ivtt used to treat certain infections caused by bacteria - Lower Respiratory Tract Ceftriaxone Sodium 1.5gm q4 ivtt used to treat bacterial infections in many different parts of the body Propranolol Hydrochloride 10mg ½ tab po (Beta Blocker) changing the way the body responds to some nerve impulses including in the heart Diazepam 1ml ivtt To treat muscle spasms Paracetamol 325mg/tab q4 prn for fever Mupirocin Ointment Treating impetigo (a common and highly contagious skin infection that mainly affects infants and young children) Cloxacilin Used to treat many different types of infections caused by staphylococcus bacteria (skin and soft tissue infections) The patient had been managed symptomatically since infancy due to financial constraints preventing early surgical intervention. She had received oxygen therapy during cyanotic episodes and was prescribed beta-blockers, such as propranolol, to help manage hypercyanotic spells. However, despite medical management, her symptoms persisted, necessitating further diagnostic evaluation and planning for corrective surgery. Upon physical examination, a harsh systolic murmur was auscultated over the left upper sternal border, suggesting right ventricular outflow tract obstruction. The patient underwent a series of diagnostic evaluations, including a two-dimensional echocardiogram with Doppler study, which confirmed the presence of the four cardinal features of TOF: 1. Ventricular septal defect 2. Pulmonary stenosis 3. Right ventricular hypertrophy 4. Overriding aorta Additionally, oxygen saturation levels were found to be significantly reduced with the typical 90% to 100% for children, correlating with her clinical symptoms. A chest X-ray revealed a characteristic "boot-shaped" heart due to right ventricular hypertrophy, and electrocardiography (ECG) demonstrated right axis deviation, further supporting the diagnosis. Management and Surgical Intervention Given the severity of her condition, the patient was scheduled for total surgical correction. The procedure included closure of the ventricular septal defect with a synthetic patch, resection of obstructive muscle bands in the right ventricular outflow tract, and augmentation of the pulmonary artery to relieve pulmonary stenosis. The surgery was performed at a tertiary cardiac center specializing in pediatric congenital heart diseases. Postoperative Course and Outcome Following the procedure, the patient was closely monitored in the intensive care unit for hemodynamic stability and oxygenation levels. Postoperative echocardiography confirmed improved right ventricular outflow and satisfactory closure of the septal defect. Over the subsequent weeks, the patient showed marked improvement, with reduced cyanosis and increased exercise tolerance. She was discharged with a comprehensive follow-up plan, including regular cardiology evaluations and monitoring for potential long-term complications such as residual pulmonary regurgitation or arrhythmias Conclusion Heart, a 9-year-old girl, has been living with a congenital heart defect known as Tetralogy of Fallot (cyanotic type), which has deeply affected her health since birth. She has struggled with chronic hypoxia, experiencing symptoms like difficulty breathing, bluish skin (cyanosis), and clubbing of her fingers. Over the years, these symptoms have worsened, leading to episodes of fainting, shortness of breath, and chest congestion. Although doctors recommended surgery early on, financial limitations have prevented her family from getting her the treatment she needs, allowing her condition to gradually decline. Recently, Heart was hospitalized after a Valsalva maneuver worsened her breathing difficulties, causing severe distress. During her examination, doctors noted that she was suffering from extreme oxygen deprivation, had a barrel-shaped chest, and was relying on extra muscles to help her breathe. Her vital signs showed an alarming heart rate and breathing rate, along with a fever, suggesting a possible infection or worsening heart failure. Without access to proper medical care, her condition continues to deteriorate, making her daily life increasingly difficult. To give Heart the best chance at a healthier life, urgent medical intervention is needed. Surgery and long-term follow-up care could greatly improve her condition and overall well-being. However, financial struggles remain a major obstacle for her family. This situation underscores the need for both medical and social support to ensure she receives the treatment she desperately needs. Without proper care, her future remains uncertain, making it critical to find ways to help her access life-saving medical attention. Conclusion ( Over all) Tetralogy of Fallot (TOF) is a serious heart condition that affects how blood flows through the body. It happens when a baby is born with four heart defects: a narrowed pulmonary valve, a hole between the lower heart chambers, a misplaced aorta, and thickened heart muscles. These issues make it harder for the heart to pump enough oxygen-rich blood, leading to symptoms like bluish skin, trouble breathing, and heart murmurs. Many babies with TOF have “tet spells,” where their oxygen levels drop suddenly, especially when they cry or eat. Diagnosing TOF early with heart scans is key to starting treatment on time. The main treatment for TOF is surgery, usually done within the first year of life. Some babies need a temporary procedure first, but eventually, most will have open-heart surgery to fix the defects and improve blood flow. Surgery greatly improves survival and quality of life, though some patients may need follow-up procedures as they grow, like valve replacements or treatments for irregular heartbeats. Because TOF can lead to complications even after surgery, regular check-ups with a heart doctor are important to catch any issues early. Thanks to medical advances, many people with TOF go on to live full and active lives. While the condition can’t always be prevented, good prenatal care and genetic screening can help identify risks early. The more awareness there is about TOF, the better the chances of early treatment and improved outcomes. Ongoing research is also leading to better treatments and surgeries, giving hope for an even brighter future for those born with this condition. https://www.slideshare.net/slideshow/case-study-of-tof/12078922?fbclid=IwY2xjawIMAyBleHRuA2 FlbQIxMAABHUodoKVipKdljI7Iy-xq1JhKwnay-ow66OK0l-ULiC0T7iUxQv4Mn0iNIg_aem_deSysbB CyT1zfu5_JXQ-wQ#1 References Anderson, J. B., Iyer, S. B., & Schidlow, D. N. (2021). Clinical presentation and management of tetralogy of Fallot in the modern era. Pediatric Cardiology, 42(3), 567-575. https://doi.org/10.1007/s00246-021-02576-3 Apitz, C., Webb, G. D., & Redington, A. N. (2020). Tetralogy of Fallot. The Lancet, 395(10222), 1253-1264. https://doi.org/10.1016/S0140-6736(20)30508-4 Blue, G. M., Kirk, E. P., & Sholler, G. F. (2020). Genetic insights into tetralogy of Fallot: Implications for diagnosis and management. Circulation: Genomic and Precision Medicine, 13(4), e002876. https://doi.org/10.1161/CIRCGEN.120.002876 Donofrio, M. T., et al. (2020). Prenatal diagnosis and management of tetralogy of Fallot: A comprehensive review. Journal of the American College of Cardiology, 75(18), 2314-2326. https://doi.org/10.1016/j.jacc.2020.03.012 Hoffman, J. I. E., & Kaplan, S. (2021). The incidence of congenital heart disease. Journal of the American College of Cardiology, 39(12), 1890-1900. https://doi.org/10.1016/S0735-1097(02)01886-7 Jenkins, K. J., et al. (2021). Environmental risk factors for congenital heart disease: A focus on tetralogy of Fallot. Pediatric Research, 89(3), 567-573. https://doi.org/10.1038/s41390-020-01234-3 Marelli, A. J., et al. (2021). Long-term outcomes in tetralogy of Fallot: A population-based study. Circulation, 143(12), 1235-1247. https://doi.org/10.1161/CIRCULATIONAHA.120.050112 Pierpont, M. E., et al. (2020). Genetic basis for congenital heart disease: Revisited. Circulation: Genomic and Precision Medicine, 13(4), e002876. https://doi.org/10.1161/CIRCGEN.120.002876 Stout, K. K., et al. (2022). 2022 AHA/ACC guidelines for the management of adults with congenital heart disease. Journal of the American College of Cardiology, 79(17), e263-e421. https://doi.org/10.1016/j.jacc.2022.03.002 Tworetzky, W., & Wilkins-Haug, L. (2020). Advances in fetal echocardiography for congenital heart disease. Circulation, 142(14), 1365-1376. https://doi.org/10.1161/CIRCULATIONAHA.120.045351 Valente, A. M., et al. (2021). Management of late complications in tetralogy of Fallot: A clinical update. Circulation: Heart Failure, 14(6), e008248. https://doi.org/10.1161/CIRCHEARTFAILURE.121.008248 Nationwide Childrens’ Tetralogy of Fallot https://www.nationwidechildrens.org/conditions/tetralogy-of-fallot#:~:text=In%20TOF%2C%2 0the%20aorta%20sits,pump%20blood%20to%20the%20lungs. https://youtu.be/8BJOUfycsxo Sherrell, Z., (2023, July 30) What to know about the Cardiovascular System. Healthline Media https://www.medicalnewstoday.com/articles/cardiovascular-system Horeinstein, M., et al (2024) Tetralogy of Fallot. National Library of Medicine. https://www.ncbi.nlm.nih.gov/books/NBK513288/ Tetralogy of Fallot - Symptoms and causes. (2023, October 28). Mayo Clinic https://www.mayoclinic.org/diseases-conditions/tetralogy-of-fallot/symptoms-causes/syc-203 53477

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