Cardiac amyloidosis (CA) is considered the paradigm of the restrictive cardiomyopathies. Previously thought to be a rare disease, it is now emerging as an underdiagnosed cause of heart failure [1]. More than 30 proteins can form amyloid fibrils, but almost all clinical cases of CA are from either mis- folded monoclonal immunoglobulin light chains (AL amyloi- dosis) produced by an abnormal clonal proliferation of plasma cells in the bone marrow, or transthyretin (ATTR amyloido- sis), a protein synthetized by the liver normally involved in the transportation of the hormone thyroxine and retinol-binding protein [1]. ATTR amyloidosis may in turn be either heredi- tary (vATTR) arising from the misfolded mutated TTR, or non-hereditary, from misfolded wild-type TTR (wtATTR). According to available data, AL amyloidosis has a prevalence of 10–16 cases in 1 million/person/year [2]. The recognition of wtATTR amyloidosis has increased exponentially over the last few years [3]. Considered until very recently rare, current reports estimate a prevalence of 10–16% in some cohorts— particularly elderly (>80-year-old) patients with either heart failure, hypertrophy, aortic stenosis, or carpal tunnel (CT) syn- drome [3, 4].
Cardiac Amyloidosis
Porcari, Aldostefano;Sinagra, Gianfranco;
2023-01-01
Abstract
Cardiac amyloidosis (CA) is considered the paradigm of the restrictive cardiomyopathies. Previously thought to be a rare disease, it is now emerging as an underdiagnosed cause of heart failure [1]. More than 30 proteins can form amyloid fibrils, but almost all clinical cases of CA are from either mis- folded monoclonal immunoglobulin light chains (AL amyloi- dosis) produced by an abnormal clonal proliferation of plasma cells in the bone marrow, or transthyretin (ATTR amyloido- sis), a protein synthetized by the liver normally involved in the transportation of the hormone thyroxine and retinol-binding protein [1]. ATTR amyloidosis may in turn be either heredi- tary (vATTR) arising from the misfolded mutated TTR, or non-hereditary, from misfolded wild-type TTR (wtATTR). According to available data, AL amyloidosis has a prevalence of 10–16 cases in 1 million/person/year [2]. The recognition of wtATTR amyloidosis has increased exponentially over the last few years [3]. Considered until very recently rare, current reports estimate a prevalence of 10–16% in some cohorts— particularly elderly (>80-year-old) patients with either heart failure, hypertrophy, aortic stenosis, or carpal tunnel (CT) syn- drome [3, 4].Pubblicazioni consigliate
I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
