on September 14, 2009
Published online before print September 14, 2009, doi: 10.1161/CIRCULATIONAHA.108.843334
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Submitted on December 23, 2008
From the Institute of Cardiology (C.R., C.C.Q., L.R., S.L., P.C., E.B., F.C., R.M.T.C., L.B.-R., D.S., A.B.), Department of Pathology (O.L.), and Institute of Hematology (M.C., E.Z.), University of Bologna, and S. Orsola-Malpighi Hospital, Bologna; Center for Amyloidosis, Fondazione IRCCS San Matteo and University of Pavia, Pavia (G.M., M.L.F., G.P., F. Salinaro, F.M., L.O., S.P.); Department of Neurology, Bellaria Hospital, Bologna (F. Salvi, F.P.); and Department of Diagnostic and Experimental Medicine, Section of Medical Genetics, University of Ferrara, Ferrara (A.F.), Italy. * To whom correspondence should be addressed. E-mail: claudio.rapezzi{at}unibo.it.
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.
Accepted on July 17, 2009
Systemic Cardiac Amyloidoses. Disease Profiles and Clinical Courses of the 3 Main Types
Claudio Rapezzi MD*,
Key words: amyloid • cardiomyopathy • echocardiography • electrocardiography • myocardium • myocytes, cardiac
Related Article:
Circulation 2009 120: 1165-1167.