Systemic cardiac amyloidoses: disease profiles and clinical courses of the 3 main types.
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.


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.
Rapezzi
Claudio
C
Istituto di Cardiologia, Policlinico S. Orsola-Malpighi, Via Massarenti n 9, 40125 Bologna, Italy. claudio.rapezzi@unibo.it
Merlini
Giampaolo
G
Quarta
Candida C
CC
Riva
Letizia
L
Longhi
Simone
S
Leone
Ornella
O
Salvi
Fabrizio
F
Ciliberti
Paolo
P
Pastorelli
Francesca
F
Biagini
Elena
E
Coccolo
Fabio
F
Cooke
Robin M T
RM
Bacchi-Reggiani
Letizia
L
Sangiorgi
Diego
D
Ferlini
Alessandra
A
Cavo
Michele
M
Zamagni
Elena
E
Fonte
Maria Luisa
ML
Palladini
Giovanni
G
Salinaro
Francesco
F
Musca
Francesco
F
Obici
Laura
L
Branzi
Angelo
A
Perlini
Stefano
S
D000328:Adult; D000368:Aged; D000686:Amyloidosis / Q000000981:diagnostic imaging* / Q000235:genetics / Q000401:mortality*; D001794:Blood Pressure; D009202:Cardiomyopathies / Q000000981:diagnostic imaging* / Q000235:genetics / Q000401:mortality*; D018450:Disease Progression; D004452:Echocardiography; D004562:Electrocardiography; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007147:Immunoglobulin Light Chains / Q000097:blood; D016015:Logistic Models; D008137:Longitudinal Studies; D008297:Male; D008875:Middle Aged; D015999:Multivariate Analysis; D009206:Myocardium / Q000473:pathology; D032383:Myocytes, Cardiac / Q000473:pathology; D017354:Point Mutation; D011228:Prealbumin / Q000235:genetics; D011669:Pulmonary Wedge Pressure; D012307:Risk Factors; D016019:Survival Analysis
D007147:Immunoglobulin Light Chains; D011228:Prealbumin