Re-Definition of the Epidemiology of Cardiac Amyloidosis

Abstract

The epidemiology of cardiac amyloidosis (CA), traditionally considered a rare and incurable disease, has changed drastically over the last ten years, particularly due to the advances in diagnostic methods and therapeutic options in the field of transthyretin CA (ATTR-CA). On the one hand, the possibility of employing cardiac scintigraphy with bone tracers to diagnose ATTR-CA without a biopsy has unveiled the real prevalence of the disease; on the other, the emergence of effective treatments, such as tafamidis, has rendered an early and accurate diagnosis critical. Interestingly, the following subgroups of patients have been found to have a higher prevalence of CA: elderly subjects > 75 years, patients with cardiac hypertrophy hospitalized for heart failure with preserved ejection fraction, subjects operated on for bilateral carpal tunnel syndrome, patients with cardiac hypertrophy not explained by concomitant factors and individuals with aortic valve stenosis. Many studies investigating the prevalence of CA in these particular populations have contributed to rewriting the epidemiology of the disease, increasing the awareness of the medical community for a previously underappreciated condition. In this review, we summarized the latest evidence on the epidemiology of CA according to the different clinical settings typically associated with the disease.

Machine Learning Approaches in Diagnosis, Prognosis and Treatment Selection of Cardiac Amyloidosis

“…These factors make early identification of the illness a crucial clinical requirement. In the past few years, early diagnoses of the disease have resulted from the active screening for CA using new AI techniques [ 180 ]. This approach could guarantee an overall more adequate management of the pathology.…”

Histological assessment of cardiac amyloidosis in patients undergoing transcatheter aortic valve replacement

“…CA is a heterogeneous disease with nine known subtypes, of which light chain (AL) and acquired wild-type transthyretin amyloidosis (ATTR) are dominant. 2 The suspected underlying subtype impacts the diagnostic pathway as invasive diagnostic criteria can be applied to all CA subtypes while non-invasive diagnostic criteria only apply to ATTR amyloidosis. 11 As Congo red staining of endomyocardial biopsies is the gold standard allowing the definite diagnosis of cardiac amyloidosis, we used this method to determine the co-prevalence of AS and CA and did not further differentiate between CA subtypes.…”

“…1 Despite histori-cally being considered a rare disease, awareness and thus prevalence have increased significantly within the last few years due to non-invasive diagnostic tools such as technetium-99m-labelled 3,3-diphosphono-1,2-propanodicarboxylic acid (99mTc-DPD scintigraphy) and magnetic resonance imaging (MRI). 2 Furthermore, new therapeutic concepts have evolved. 3 The prevalence of CA differs according to the used method and the age of the analysed cohort: 25% was reported in patients >85 years (post-mortem pathology) and 16% in aortic stenosis (AS) patients at a mean age of 84 years undergoing transcatheter aortic valve replacement (TAVR; cardiac scintigraphy).…”

Detection and Diagnosis of Cardiac Amyloidosis in Egypt

“…Typical clinical manifestations of AL-CA include heart failure with multi-organ involvement including nephrotic syndrome, orthostatic hypotension, diarrhea, bladder disorder, peripheral neuropathy, macroglossia, and periorbital purpura [ 11 ]. Untreated AL-CA patients have a poor prognosis with a median survival of 6–12 months [ 25 , 26 ]. Promisingly, early diagnosis and prompt treatment has significantly increased survival with one in five patients having a longevity of 10 years, and approximately 30% surviving 15–20 years following stem cell transplantation [ 27 ].…”