Transthyretin Amyloid Cardiomyopathy Linked to HFpEF

Systematic evaluation should be used to increase the diagnosis of transthyretin amyloid cardiomyopathy (ATTR-CM), which is present in a significant number of heart failure (HF) with preserved ejection fraction (HFpEF) cases, according to a study published in JAMA Cardiology.

“HFpEF is common, is frequently associated with ventricular wall thickening, and has no effective therapy. ATTR-CM can cause the HFpEF clinical phenotype, has highly effective therapy, and is believed to be underrecognized,” the researchers wrote.

To examine the prevalence of ATTR-CM without and with systematic screening in patients with HFpEF and ventricular wall thickening, the researchers conducted a population-based cohort study of 1,235 consecutive patients with HFpEF both without, and with (n = 286) systematic screening. The population of interest were required to have a validated HF diagnosis, be 60 years of age or older, have an ejection fraction of 40% or greater, and a ventricular wall thickness of 12 mm or greater. The primary endpoints were defined as ATTR-CM prevalence by strategy (clinical diagnosis or systematic screening), age, and sex.

According to the results, in the 286 patients in the community screening cohort, the researchers observed that 18 (6.3%; 95% CI, 3.8%-9.8%) had ATTR-CM. They noted that prevalence increased with age from 0% in patients 60 to 69 years of age to 21% in patients 90 years and older (P < .001). Adjusting for age, ATTR-CM prevalence differed by sex, with 15 of 150 men (10.0%; 95% CI, 5.7%-16.1%) and 3 of 136 women (2.2%; 95% CI, 0.4%-6.3%) having ATTR-CM (P = .002), the researchers further noted.


“In this cohort study based in a community-based setting, ATTR-CM was present in a substantial number of cases of HFpEF with ventricular wall thickening, particularly in older men,” the researchers concluded.

“These results suggest that systematic evaluation can increase the diagnosis of ATTR-CM, thereby providing therapeutically relevant phenotyping of HFpEF.”