484 Echocardiographic patterns in patients with apolipoprotein AI amyloidosis

Aims Hereditary amyloidosis are rare diseases characterized by extracellular deposition of insoluble fibril proteins in target organs disrupting their structure and function. The APOA1 gene encodes the precursor of apolipoprotein AI (ApoAI), whose mature form is the major component of high-density lipoproteins. There are some clusters of ApoAI amyloidosis (AApoAI) worldwide, including in the Lombardy and Veneto regions. Patients with AApoAI often present with chronic kidney disease, liver and spleen enlargement, with occasional involvement of the heart, peripheral nervous system, and other organs. Patterns of cardiac disease in AApoAI have never been systematically investigated. Methods and results We examined all patients with an established diagnosis of AApoAI referred to a dedicated outpatient clinic in Brescia from 2010 to 2020. The cardiac screening included a transthoracic echocardiogram with 2D speckle-tracking analysis. One-hundred and eighty-nine patients were evaluated [n = 102 (54%) men, median age 55 years (interquartile range 42–67)]. Renal disease was present in 39% and liver disease in 31%. Almost all patients were in sinus rhythm (96%). Median left ventricular ejection fraction (LVEF) was 60% (55–66), and just 2% of patients had LVEF Conclusions In the largest series of patients with AApoAI so far, minor signs of cardiac disease emerged from transthoracic echocardiography. Nonetheless, some red flags of cardiac amyloidosis were found in some patients. Furthermore, the correlations between age and echocardiographic findings suggested a progressive increase in wall thickness, a decline in systolic and diastolic function, and a greater uncoupling between LV mass and contractility over time.