In Anderson-Fabry disease (AFD), echocardiography is the first-line imaging modality and is crucial for prognostic stratification, clinical therapy, and screening. It is the rare X-linked genetic metabolic ailment known as AFD causes the enzyme α-galactosidase A to be deficient or absent, which causes glycosphingolipids to accumulate in several tissues and organs (skin, kidneys, blood vessels, central nervous system), including the heart. Increased myocardial inflammation, left ventricular hypertrophy, and myocardial fibrosis are the common outcomes of cardiac involvement. This is the most frequent cause of mortality for these people and can lead to a clinical spectrum of heart failure, restrictive cardiomyopathy, and arrhythmia episodes. When describing AFD cardiomyopathy, standard echocardiography is essential. Echocardiography is the best method for screening AFD cardiomyopathy since it is a diffuse, non-invasive, easily reproducible, and reasonably priced testing procedure (1,2).
In order to use echocardiography to screen for AFD, a nurse must secure the patient’s consent, educate them, prepare them for the procedure, provide supportive care, preserve their privacy, and assist with the practical aspects of the test. Additionally, echocardiogram examination is the most important imaging technique to help physicians follow up with patients who have AFD.