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Marfan Syndrome: Annotated Bibliography

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Mayo Clinic Staff. (2021). Mayo Clinic. Web.

The source and the author behind it can be considered reliable since they present general information about the disease. Marfan syndrome is a genetic disorder that is the result of connective tissue malformation. Since connective tissue is present almost in all systems, its impact on the body can be severe. The most dangerous aspect of the disease can be found in the cardiovascular system because the aorta’s functionality is dependent on the properties of connective tissue. The given source will support the project by providing essential background information and a general overview of the issue.

Pepe, G., Giusti, B., Sticchi, E., Abbate, R., Gensini, G. F., & Nistri, S. (2016). The Application of Clinical Genetics. Web.

The source is highly reliable and evidence-based since it is a systematic review paper. The disorder is inherited as an autosomal dominant gene with the mutation in FBN1, which encodes fibrillin 1. The findings indicate that aortic dilation is the major cause of complications, which can only be effectively treated through beta-receptor blockers. The early diagnosis of the disease is critical and requires a multidisciplinary clinical evaluation. The source will support the project by providing more in-depth details on the general manifestations of Marfan syndrome as well as offering systematic treatment and management options.

Isekame, Y., Gati, S., Aragon-Martin, J. A., Bastiaenen, R., Kondapally Seshasai, S. R., & Child, A. (2016). Web.

The source is highly reliable and valid since it is a collective overview of research data with a specific focus on cardiovascular aspects of the disease. Marfan syndrome affects approximately 2-3 persons per 10000 people. A non-invasive approach for cardiac valve and aortic evaluation is echocardiography. The treatments can range from pharmacological to surgical ones, where the latter mainly repairs the valves. The source will support the assessment by providing detailed information on cardiovascular manifestations of Marfan syndrome, which will be the prime focus and interest of the project.

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