What keeps our bodies together? In addition to bones and muscles, we have connective tissue that supports organs, supports the body's cells, and gives structure to the body; playing an important role in our development. This elastic fibrous tissue can also become diseased and deteriorate, some people may suffer from a disease known as Marfan syndrome, which is a very unique "inherited genetic disorder" that affects the connective tissue fibers within the body. '' (Mayo Foundation for Medical Education and Research, 2018). Different proteins make up the structure and different layers of connective tissue; specifically the protein fibrillin-1 has to do with providing structural support in elastic and non-elastic connective tissues throughout the body, so any change in the amount of this protein will have its effect on the body along with different organ systems. The etiology of this syndrome occurs primarily due to a mutation and/or malfunction of the gene that tells the body to produce more fibrillin-1. Men, women and any ethnic group can be affected. You are most likely to inherit from a parent or family member. Surprisingly, this genetic mutation can occur even without a family history; when this happens it is called spontaneous mutation. Say no to plagiarism. Get a tailor-made essay on "Why Violent Video Games Shouldn't Be Banned"? Get an original essay According to the Marfan Foundation, about 1 in 5,000 people have Marfan syndrome, and there is a 50% chance that the gene will be passed on whenever the patient decides to become a parent. Individuals with this syndrome are born with it, but the characteristics and complications do not present themselves immediately. It is usually a progressive disease but affects each patient differently. Some develop complications at birth, as young children or even as adults. Each patient experiences the signs and symptoms differently, but a very common sign is a very elongated body structure. People with disproportionately long arms, legs and fingers. Clinical manifestations include flat feet, flexible joints, pectus excavatum (sunken breast bone) or pectus curatum (protrusion of the sternum), scoliosis and kyphosis, high palate with crowded teeth, heart murmurs, and extreme nearsightedness (myopia). this type of patient. Serious complications and disturbances in the pathophysiology of the disease may occur which will affect the cardiovascular system, skeletal system, skin, eyes and respiratory system. The most dangerous complication occurs when the heart and blood vessels, especially the aorta, are involved; large artery from the heart that supplies oxygenated blood. The incidence is so common that heart and vascular problems affect 9 out of 10 people diagnosed with Marfan syndrome. ''(Marfan Foundation, 2013). The consequences of this are linked to the weakening of the connective tissue which leads to a defective aorta giving rise to various cardiovascular complications such as; aortic aneurysm, aortic dissection and valve malformation. Lung complications are also present and the risk is so high that anyone diagnosed with the disease should avoid smoking at all costs. Respiratory dysfunction includes spontaneous pneumothorax, restrictive lung disease, emphysema, asthma, and sleep apnea. In Marfan lung, a spontaneous pneumothorax may be recurrent and present in both lungs, this occurs because the connective tissue around the lungs is weak and any excessive pressure can cause damage. Restrictive lung disease is the result of muscle weakness or anatomical deformitieswhich do not allow complete inhalation making it difficult to receive the adequate amount of oxygen the body needs. The elastic properties of the lung are very important for the ventilation phase since it is the main component in determining the inspiratory muscular effort required to breathe. ''Approximately 70% of people with Marfan syndrome will have a restrictive breathing profile that creates and changes breathing mechanics. '' (Marfan Foundation, 2013). Mainly characterized by bronchoconstriction of the bronchioles, asthma can also occur and is very important for a correct diagnosis because the drugs used to treat asthma (beta-agonists) can interfere with the effects of beta-blockers, used as a treatment for control of the aorta. growth in people with Marfan syndrome. Another respiratory complication is sleep apnea; Although it is more common in overweight patients, thin individuals suffering from Marfan syndrome can also suffer from this disorder. The causes may be different but the main one is that the connective tissue of the airways is so loose that during sleep it tends to relax more and can cause obstruction. To be correctly diagnosed, some symptoms and a family history must be present. It is essential for early and accurate diagnosis to treat and manage the disease appropriately as it tends to worsen with age and the way it manifests in patients can vary widely with the signs and symptoms experienced by their relatives. Genetic tests can be very useful to establish any risk of incidence in patients; It also serves as a guideline when a physical exam with a doctor is not entirely clear. There are also a series of tests that can be done to see the severity of the disease and determine which system of the body is most affected. One of the first tests will be an echocardiogram; which uses sound waves and images of the heart in real time. It is also useful to check the condition and size of the aorta and heart valves. Another heart-related test would be an electrocardiogram that checks your heart rate and heart rhythm. An eye exam should also be performed as the connective tissues in the eye will be out of place causing eye problems. ''More than half of people who suffer from Marfan syndrome will have a dislocation of the lens; this is characterized by the shifting of the focusing lens in the eye because its supporting structure has weakened. There is no cure and the connective tissues that have broken will not heal or reattach. This can lead to blurred vision which can be corrected with glasses. ''(Harvard Health Publishing, 2014). To adequately treat Marfan syndrome, the main step is to identify which body system is most affected. Because the incidence of heart problems is so high, treatment usually involves medications to keep blood pressure low and reduce stress on the aorta. Regular monitoring is recommended to check for any structural changes in the organs, particularly the heart. There is no definitive cure, treatment focuses on living a long and full life with proper management and teaching the patient to identify the progression of symptoms. As a last resort, surgery is recommended to repair any deformity. ''There have been tremendous improvements in surgical interventions and drug treatments developed over the last 15-20 years as a ''preventative'' measure to reduce mortality in Marfan patients. In the past life expectancy did not exceed 40 years, but thanks to the technology available today the average is 65-75 years. ''(Uriarte, et al., 2016). Surgical interventionsinclude aorta repairs, sternum corrections and eye surgeries. As a treatment option the patient may wear contact lenses or glasses for blurred vision or extreme nearsightedness. There is also a scoliosis treatment for children, which involves wearing a custom-made back brace, which must be worn until fully grown. The patient may need to make life changes such as avoiding any recreational or daily activities that could increase blood pressure and increase the risk of aortic dissection. A support group made up of people suffering from the same illness is always healthy since the patient feels identified and does not get depressed. A study focused on evaluating the elastic mechanical properties of the respiratory system in Marfan syndrome used mice as a model that mimics aspects of the syndrome in humans. The experiment revealed and found that Marfan mice displayed a pattern of emphysema with large alveolar interseptal distances as they aged into adulthood, demonstrating early lung impairment as an early symptom of the genetic disease. Future research should focus on the alveolar structure and determine whether the disease process actually develops with emphysema or whether the alveoli rupture due to constant stretching of the already weakened connective tissue. Additionally, a real-life case of Marfan syndrome involved a 60-year-old Caucasian woman who complained of shortness of breath upon exertion, extreme tiredness, and dizziness for a year. The gradual onset of tiredness and shortness of breath increased throughout his daily day. activity, says he should stop to ''catch his breath''. History of current disease includes atrial flutter, Marfan syndrome, severe mitral valve regurgitation, mitral valve prolapse, palpations, pectus excavatum, scoliosis, and tachycardia. His past medical history includes chronic interstitial cystitis, nontoxic goiter, and osteoporosis. Family history of patients; states that his father has undergone heart surgery. The father is alive at age 86 and has had a mitral valve replacement, congestive heart failure, and atrial fibrillation. The mother is also alive at the age of 82 and had angina, she also has Marfan syndrome. Social history; the patient has a living will. She is currently retired and lives with her husband. Surgical history includes: an appendectomy, tonsillectomy, umbilical hernia repair, hysterectomy, colonoscopy, and cardiac catheterization. The patient is allergic to Anaprox (naproxen sodium) and Levaquin (levofloxacin), both of which produce a severe reaction. The patient's interview revealed that she has never smoked cigarettes and denies any recreational illicit drug use. He says his last alcohol intake was 3 months ago. The patient is a Jehovah's Witness and if for any reason surgery needs to be performed, she refuses whole blood, red blood cells, white blood cells, platelets and plasma. He admits that he will receive fractionated products including: erythropoietin, recombinant factor 7, Keentra and cryoprecipitate and will also accept cell saver and haemodilution. Beyond that, he describes himself as someone who bleeds easily, but when planning surgery he builds up hemoglobin and reserves significantly and has been proven effective for past surgeries. Review of symptoms: Extremities do not show clubbing, cyanosis, or edema. No varicosities or static dermatitis. The lungs were visible to auscultation bilaterally, without wheezing, rhonchi, crackles, or use of accessory muscles. Normal diaphragmatic excursion. Head, eyes,ears, nose and throat had normal conjunctiva and eyelids. Extraocular movements are intact. Grossly normal hearing acuity. The oral mucosa is pink and moist. There is no septal deviation. The teeth have significant decay but the gums and palate are in good condition. The neck is elastic and there is no jugular venous distention. There is no thyromegaly or lymphadenopathy. Furthermore, the trachea is in the midline. The heart has a regular rate and rhythm. No rubs or gallops are detected. III/VI holosystolic murmur detected. The abdomen is soft, nontender, nondistended, without masses or organomegaly. At the vascular level there are carotid, abdominal or femoral bruits. Peripheral pulses are intact in all 4 extremities. Musculoskeletal; gait is not observed. Scoliosis is present, the chest and ribs protrude. There is good strength and muscle tone in all extremities. The skin is warm and dry without jaundice, rashes, bruising, or lesions. No sensory or motor deficits. The patient is alert and oriented x3. Shows normal mood and affect. Answers questions appropriately. The patient's hematology report reflects an elevated hemoglobin of 20 g/dl. The patient states that she always accumulates it because she is "a person who bleeds easily." He states that for previous surgeries he has had very good results. All other parameters were normal. His electrolyte panel had hyperchloremia. All other parameters were within normal ranges. After taking vital signs, the following results were as follows: oxygen saturation of 100%, respiratory rate of 25 breaths per minute which is a little high, blood pressure of 101/55 mmHg, pulse of 75 beats per minute and temperature of 98 .2 °F. The patient was not coughing or producing mucus. He currently weighs 158.5 lbs and height is 68 inches. Special tests that were done on her revealed a few different things. The chest x-ray revealed no pleural effusions or focal infiltrates. Minimal linear scarring or atelectasis in the inferior lingula and right medial inferior lobe. There is a 2 mm right lower lobe pulmonary nodule. There is also a 6.5 mm nodule at the left base of the lateral costiphrenic sulcus. There is prominent dextroscoliosis of the midthoracic spine. The pectus excavatum is present. There is no cardiomegaly or pericardial effusion. The patient underwent catheterization in which widely patent coronaries and severe mitral regurgitation were discovered. An electrocardiography revealed sinus rhythm, prolonged PR interval, abnormal R-wave progression, and early transition. A carotid ultrasound was performed which revealed multiple bilateral nodules in the thyroid. Finally, an echocardiogram revealed normal dimensions of the left ventricular cavity with preserved systolic function and severe prolapse of the posterior leaflet of the mitral valve, resulting in severe eccentric jet of anteriorly directed mitral regurgitation. The three arterial blood gases done were to see her status before and after surgery as it was decided that she would have surgery for mitral valve repair. The first, before surgery, revealed pH 7.47, PaCo2 35.0 mmHg, PaO2 99 mmHg, Hc03 of 20 mEq/L, Spo2 98% and was detected with room air. This is interpreted as uncompensated respiratory alkalosis. The second blood gas analysis was performed and the patient was already connected to the ventilator with an airway size of 8.0 and 23 at the teeth towards the right side with a cuff pressure of 26 in continuous mandatory ventilation mode in volume control, at a rate of 12, a tidal volume of 500, a PEEP of 8, and a FiO2 of 70%. The results were pH.