Estimating the Prevalence of Wild-Type Transthyretin Cardiac Amyloidosis in a Heart Failure Clinic

While transthyretin amyloidosis (ATTR) can be acquired or is hereditary, it has been increasingly established as the most common cause of cardiac amyloidosis.

There are a wide range of clinical manifestations of hereditary ATTR (ATTRv), such as gastrointestinal disorders, peripheral polyneuropathy, and cardiac symptoms.

Cardiac clinical signals dominate the acquired form of wild-type ATTR (ATTRwt) amyloidosis symptomatology. Increased wall thickness, restrictive left ventricular filling pattern, bradyarrhythmias, and atrial fibrillation are classic cardiac manifestations of ATTRwt as well as ATTRv amyloidosis.

Recently, due to advances in diagnostic tools and treatment options, ATTRwt has become a topic of increased interest. While there is a dearth of information on prevalence, investigators probed the incidence in a population of patients with heart failure with myocardial hypertrophy.

Specifically, in an unselected heart failure population, Lindmark and colleagues investigated the prevalence of ATTRwt amyloidosis by looking at all patients who had an International Classification of Diseases code of heart failure living in the region around University Hospital of Umeå and had an intraventricular septum >14 mm. These patients were offered a clinical workup and screening with 3,3‐diphosphono‐1,2‐propanodicarboxylic acid (DPD) scan. Of the patients (N = 2238) diagnosed with heart failure in the catchment region, 174 patients had a septum >14 mm. Twelve patients were diagnosed with ATTRwt cardiomyopathy, 10 patients were already diagnosed with ATTRv cardiomyopathy, 4 patients had already undergone a negative DPD scan, as indicated through a DPD uptake of grade 0 or grade 1 within the past 3 years; 12 patients had known hypertrophic cardiomyopathy, and 1 patient had light-chain amyloidosis. The investigators attempted to contact the remaining 134 patients for screening, but 48 patients had either declined to participate or had died. Of the patients (N = 86) who were contacted and screened, 13 had a DPD uptake of grade 2 or 3 without other amyloid disease; in this population, the total number of patients with ATTRwt was 25.

Based on this analysis, in a cohort with heart failure and increased myocardial wall thickness, approximately 20% of patients had ATTRwt. For the whole population of heart failure patients, the calculated prevalence was just over 1.1%; therefore, the estimated prevalence was 1:6000, based on the compared number to the total population. The investigators also noted that the results perhaps characterize early ATTR amyloid cardiomyopathy as the patients with grade 1 DPD uptake had no symptoms of monoclonal disease.

Source: Lindmark K, Pilebro B, Sundström T, Lindqvist P. Prevalence of wild type transthyretin cardiac amyloidosis in a heart failure clinic. ESC Heart Fail. 2021;8(1):745-749.

Related Items

Subscribe to Amyloidosis News

Stay up to date with Amyloidosis News & updates by subscribing to receive the free AMN e‑Newsletter.

I'd like to receive: