LAA exclusion results in an early and persistent decrease in systolic BP. Additionally, there is an early decline in serum sodium, which normalizes at long-term follow-up. The underlying mechanism leading to these changes is not entirely clear; however, it is likely related to neurohormonal changes post LAA exclusion.
Purpose
Clarify the differences between Familial Adenomatous Polyposis (FAP)-associated Congenital Hypertrophy of the Retinal Epithelium (CHRPE) and benign variants with regards to lesion characteristics and associated risk.
Observations
An eighteen-year-old man with no past medical history was found to have multiple lesions in both eyes that were consistent with FAP-associated CHRPE. Although family history was negative for colon cancer, a colonoscopy was performed, and hundreds of polyps were found extending from the rectum to the distal colon with pathological findings of tubular adenoma. Genetic testing was consistent with a possible
de novo
Adenomatous Polyposis Coli (APC) mutation.
Conclusions
FAP is an autosomal dominant syndrome that causes colorectal cancer by age thirty-five in ninety-five percent of cases. There has been no established relationship between the benign variants of CHRPE and FAP, and patients with benign variants have no increased risk of colon cancer. While the lack of distinction in nomenclature and similar lesion appearance often leads to misdiagnosis and overtreatment, there are distinct ocular exam features that can provide the correct diagnosis. The exam findings that distinguish FAP-associated CHRPE lesions are (1) bilateralism, (2) occurrence in multiple quadrants, (3) pisiform shape, and (4) irregular borders. Knowing these features can be of great aid, especially in the setting of suspected
de novo
Familial Adenomatous Polyposis.
Echocardiography is the most common imaging modality for the assessment of cardiovascular tumors, followed by more advanced imaging modalities, such as cardiac computed tomography or cardiac magnetic resonance imaging. Non-neoplastic lesions that may simulate a true neoplasm on imaging are termed "cardiac pseudotumors." As echocardiography is the initial imaging modality where pseudotumors are identified, it is imperative to have a fundamental understanding of pseudotumors evaluation using echocardiography. There is paucity of the literature describing the different kinds of pseudotumors. This review is an attempt to describe common cardiac pseudotumors and to classify them based on their origin. The tumors arising from cardiac structures, such as epicardium, endocardium, or myocardium, were termed as "intrinsic" while the pseudotumors with no cardiac origin were termed as "extrinsic." The more common pseudotumors are described in detail with pertinent echocardiographic features and examples.
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