Systemic Cardiac Amyloidoses

Abstract

Background— Most studies of amyloidotic cardiomyopathy consider as a single entity the 3 main systemic cardiac amyloidoses: acquired monoclonal immunoglobulin light-chain (AL); hereditary, mutated transthyretin-related (ATTRm); and wild-type transthyretin-related (ATTRwt). In this study, we compared the diagnostic/clinical profiles of these 3 types of systemic cardiac amyloidosis. Methods and Results— We conducted a longitudinal study of 233 patients with clear-cut diagnosis by type of cardiac amyloidosis (AL, n=157; ATTRm, n=61; ATTRwt, n=15) at 2 large Italian centers providing coordinated amyloidosis diagnosis/management facilities since 1990. Average age at diagnosis was higher in AL than in ATTRm patients; all ATTRwt patients except 1 were elderly men. At diagnosis, mean left ventricular wall thickness was higher in ATTRwt than in ATTRm and AL. Left ventricular ejection fraction was moderately depressed in ATTRwt but not in AL or ATTRm. ATTRm patients less often displayed low QRS voltage (25% versus 60% in AL; P <0.0001) or low voltage-to-mass ratio (1.1±0.5 versus 0.9±0.5; P <0.0001). AL patients appeared to have greater hemodynamic impairment. On multivariate analysis, ATTRm was a strongly favorable predictor of survival, and ATTRwt predicted freedom from major cardiac events. Conclusions— AL, ATTRm, and ATTRwt should be considered 3 different cardiac diseases, probably characterized by different pathophysiological substrates and courses. Awareness of the diversity underlying the cardiac amyloidosis label is important on several levels, ranging from disease classification to diagnosis and clinical management.

Biochemical markers in early diagnosis and management of systemic amyloidoses

“…An analysis of the Italian case series has shown the usefulness of NT-proBNP in follow-up of cardiac ATTR patients, with a powerful prognostic role [35]. It must be noted that the increase in NT-proBNP is usually lower in ATTR and SSA patients compared to AL ones, despite comparable or higher amyloid load (estimated by the cardiac walls thickness at echocardiography), suggesting that the cardiotoxicity exerted by immunoglobulin light chains is more pronounced that that caused by transthyretin [31,36]. Indeed, heterogeneity in serum cardiac biomarkers concentration is observable among cardiac ATTR caused by different TTR variants [33,37].…”

Diagnostic utility of cardiac troponin T level in patients with cardiac amyloidosis

“…Cardiac amyloidosis is a progressive and infiltrative cardiomyopathy with increased ventricular wall thickness, diastolic dysfunction, and cardiac conduction system diseases 1, 2. There are three main types of cardiac amyloidosis: acquired monoclonal immunoglobulin light chain (AL amyloidosis); hereditary, mutated transthyretin amyloidosis (ATTRm); and wild‐type transthyretin amyloidosis (ATTRwt).…”

“…Treatment and prognosis of cardiac amyloidosis vary greatly depending on the amyloid fibril precursor. Therefore, early detection and classification are important for the selection of appropriate therapeutic strategies such as chemotherapy, liver transplantation, and novel transthyretin‐modifying therapeutics 1, 2, 3, 4…”

Clinical Masks of Amyloidosis With the Heart Involvement: Modern Diagnostic Issues

“…сделало его неактуальным. Наши наблюдения подтверждают данные о том, что ATTR сам по себе является факто-ром более благоприятного прогноза [28], в то время как средняя выживаемость при AL типе составляет 46 месяцев [29].…”