ECHOCARDIOGRAPHIC FEATURES IN VAL30MET TRANSTHYRETIN-RELATED FAMILIAL AMYLOIDOTIC POLYNEUROPATHY: DIASTOLIC FUNCTION PATTERN

Abstract

Introduction: The Val30Met transthyretin-related familial amyloidotic polyneuropathy (ATTR) is the most common of the hereditary amyloidosis, mainly with the neurological phenotypical presentation. It is believed that the prevalence of its cardiovascular manifestations may be underestimated in Brazil. Methods: Echocardiographic studies were performed in 42 patients with ATTR, symptomatic and asymptomatic carriers of the mutation Val30Met. Multivariate analysis was applied using the regression model by the elastic net regularization method in order to identify the relevant variables. The classification tree was the statistical method employed to detect the relationship between the selected variables. In order to assess the reliability of the echocardiographic quantitative measures (left ventricular atrial volume and deceleration time) the interobserver and intraobserver agreement analysis was performed using the Survival Agreement Plot. Results: In patients ≤ 40 years of age, there is a 90% probability of not having diastolic dysfunction. The PND score was not related to the echocardiographic variables. Conclusion: In this population of ATTR patients, the knowledge that age could play a role in predicting the presence of diastolic dysfunction may contribute to better stratification of subjects and potentially predict cardiovascular outcomes.