Echocardiographic assessment of anderson-fabry disease Anderson-Fabry disease (AFD) is a rare lysosomal inborn metabolism error due to changes to the long arm of the X chromosome that result in deficiencies of the alpha-galactosidase enzyme, which is responsible for metabolizing glycosphingolipids. Systemic presentations result from the accumulation of these substances in the cells of organs such as the heart, central and peripheral nervous system, kidneys, eyes, skin, and others. This heart disease, which resembles a sarcomeric hypertrophic cardiomyopathy phenocopy, is a […]

A 33-year-old female patient presented with complaints of palpitations, precordialgia, and dyspnea on exertion. Echocardiography revealed that the left coronary artery originated from the pulmonary artery with reverse flow and dilation of the right coronary artery (Figure 1, Video 1). Subsequent coronary angiography confirmed the diagnosis of anomalous left coronary artery from the pulmonary artery, also known as Bland-White-Garland syndrome (Figure 2), a rare and potentially fatal congenital pathology with an uncommon initial presentation in adults.

Introduction Chronic mitral valve regurgitation is a very common disease that must be differentiated into primary (structural mitral valve disease) and secondary (left ventricular [LV] disease) types to ensure appropriate management and treatment. Echocardiography is an essential exam in the etiological diagnosis to quantify a valve lesion and its repercussion as well as being decisive for defining the best surgical timing. Intraoperative echocardiography, such as MitraClip® placement, is a Class I indication in mitral valve repair and interventional treatment. Untreated […]

Abstract Background: The use of myocardial perfusion scintigraphy in asymptomatic patients remains restricted to very specific clinical situations, many of which are addressed in the appropriate use criteria (AUC) for myocardial perfusion scintigraphy. Objective: To critically analyze the application of these criteria in indicating the tests performed in asymptomatic patients of the Dante Pazzanese Institute of Cardiology, a population that is notably at high cardiovascular risk. Methods: The study selected asymptomatic patients undergoing myocardial perfusion scintigraphy to investigate ischemia. Indications […]

Introduction Sarcoidosis is a systemic granulomatous disorder of unknown cause that can affect virtually any organ. The extracardiac forms are usually benign and subjected to spontaneous remission. However, the prognosis may be unfavorable in case of cardiac involvement. Symptomatic cardiac sarcoidosis (CS) is diagnosed in approximately 5% of patients with sarcoidosis. However, based on some autopsy series, the prevalence of subclinical CS can reach 25–30%. […]

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Abstract Atrial myxomas may progress asymptomatically or present systemic manifestations. Echocardiography is an effective complementary exam to diagnose such pathology. Cardiac surgery represents the definitive treatment; particularly when performed early, it can avoid tumor growth–related complications. This article reports the case of an elderly high-risk cardiovascular patient admitted with acute ST elevation myocardial infarction in a cardiac unit progressing with cardiogenic shock, which contributed to the low suspicion of cardiac tumor as the initial diagnosis.

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