Redefining the epidemiology of cardiac amyloidosis. A systematic review and meta-analysis of screening studies

Eur J Heart Fail. 2022 Dec;24(12):2342-2351. doi: 10.1002/ejhf.2532. Epub 2022 May 16.


Aims: An algorithm for non-invasive diagnosis of amyloid transthyretin cardiac amyloidosis (ATTR-CA) and novel disease-modifying therapies have prompted an active search for CA. We examined the prevalence of CA in different settings based on literature data.

Methods and results: We performed a systematic search for screening studies on CA, focusing on the prevalence, sex and age distribution in different clinical settings. The prevalence of CA in different settings was as follows: bone scintigraphy for non-cardiac reasons (n = 5 studies), 1% (95% confidence interval [CI] 0%-1%); heart failure with preserved ejection fraction (n = 6), 12% (95% CI 6%-20%); heart failure with reduced or mildly reduced ejection fraction (n = 2), 10% (95% CI 6%-15%); conduction disorders warranting pacemaker implantation (n = 1), 2% (95% CI 0%-4%); surgery for carpal tunnel syndrome (n = 3), 7% (95% CI 5%-10%); hypertrophic cardiomyopathy phenotype (n = 2), 7% (95% CI 5%-9%); severe aortic stenosis (n = 7), 8% (95% CI 5%-13%); autopsy series of 'unselected' elderly individuals (n = 4), 21% (95% CI 7%-39%). The average age of CA patients in the different settings ranged from 74 to 90 years, and the percentage of men from 50% to 100%. Many patients had ATTR-CA, but the average percentage of patients with amyloid light-chain (AL) CA was up to 18%.

Conclusions: Searching for CA in specific settings allows to identify a relatively high number of cases who may be eligible for treatment if the diagnosis is unequivocal. ATTR-CA accounts for many cases of CA across the different settings, but AL-CA is not infrequent. Median age at diagnosis falls in the eighth or ninth decades, and many patients diagnosed with CA are women.

Keywords: Autopsy; Cardiac amyloidosis; Carpal tunnel syndrome; Diagnosis; Epidemiology; Heart failure; Hypertrophy; Red flags; Scintigraphy; Screening.

Publication types

  • Meta-Analysis
  • Systematic Review

MeSH terms

  • Amyloid
  • Amyloidosis* / diagnosis
  • Amyloidosis* / epidemiology
  • Cardiomyopathies* / diagnosis
  • Cardiomyopathies* / epidemiology
  • Cardiomyopathies* / therapy
  • Female
  • Heart Failure* / diagnosis
  • Heart Failure* / epidemiology
  • Humans
  • Male
  • Phenotype
  • Ventricular Dysfunction, Left*


  • Amyloid