Importance Heart failure (HF) with preserved ejection fraction (HFpEF) is common, is frequently associated with ventricular wall thickening, and has no effective therapy. Transthyretin amyloid cardiomyopathy (ATTR-CM) can cause the HFpEF clinical phenotype, has highly effective therapy, and is believed to be underrecognized.

Objective To examine the prevalence of ATTR-CM without and with systematic screening in patients with HFpEF and ventricular wall thickening.

Design, Setting, and Participants This population-based cohort study assessed ATTR-CM prevalence in 1235 consecutive patients in southeastern Minnesota with HFpEF both without (prospectively identified cohort study) and with (consenting subset of cohort study, n = 286) systematic screening.Key entry criteria included validated HF diagnosis, age of 60 years or older, ejection fraction of 40% or greater, and ventricular wall thickness of 12 mm or greater. In this community cohort of 1235 patients, 884 had no known ATTR-CM, contraindication to technetium Tc 99m pyrophosphate scanning, or other barriers to participation in the screening study. Of these 884 patients, 295 consented and 286 underwent scanning between October 5, 2017, and March 9, 2020 (community screening cohort).

Exposures Medical record review or technetium Tc 99m pyrophosphate scintigraphy and reflex testing for ATTR-CM diagnosis.

Main Outcomes and Measures The ATTR-CM prevalence by strategy (clinical diagnosis or systematic screening), age, and sex.

Results A total of 1235 patients participated in the study, including a community cohort (median age, 80 years; interquartile range, 72-87 years; 630 [51%] male) and a community screening cohort (n = 286; median age, 78 years; interquartile range, 71-84 years; 149 [52%] male). In the 1235 patients in the community cohort without screening group, 16 patients (1.3%; 95% CI, 0.7%-2.1%) had clinically recognized ATTR-CM. The prevalence was 2.5% (95% CI, 1.4%-4.0%) in men and 0% (95% CI, 0.0%-0.6%) in women. In the 286 patients in the community screening cohort, 18 patients (6.3%; 95% CI, 3.8%-9.8%) had ATTR-CM. 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 149 men (10.1%; 95% CI, 5.7%-16.1%) and 3 of 137 women (2.2%; 95% CI, 0.4%-6.3%) having ATTR-CM (P = .002).

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

射血分数保留 的心力衰竭 (HFpEF) 很常见，通常与心室壁增厚有关，并且没有有效的治疗方法。转甲状腺素蛋白淀粉样变性心肌病 (ATTR-CM) 可引起 HFpEF 临床表型，具有高效的治疗方法，但被认为未被充分认识。

目的 研究在 HFpEF 和心室壁增厚患者中未经系统筛查和经系统筛查的 ATTR-CM 患病率。

设计、设置和参与者 这项基于人群的队列研究评估了明尼苏达州东南部连续 1235 名 HFpEF 患者的 ATTR-CM 患病率，既没有（前瞻性确定的队列研究）也没有（队列研究的同意子集，n = 286）系统筛查。关键入选标准包括经过验证的 HF 诊断、年龄 60 岁或以上、射血分数 40% 或更高以及心室壁厚度 12 mm 或更大。在这个由 1235 名患者组成的社区队列中，884 名患者没有已知的 ATTR-CM、锝 Tc 99m 焦磷酸盐扫描禁忌症或参与筛查研究的其他障碍。在这 884 名患者中，295 名同意，286 名在 2017 年 10 月 5 日至 2020 年 3 月 9 日期间接受了扫描（社区筛查队列）。

用于 ATTR-CM 诊断的病历审查或锝 Tc 99m 焦磷酸盐闪烁扫描和反射测试。

主要结果和措施 按策略（临床诊断或系统筛查）、年龄和性别划分的 ATTR-CM 患病率。

结果 共有 1235 名患者参与了该研究，包括一个社区队列（中位年龄，80 岁；四分位间距，72-87 岁；630 [51%] 男性）和一个社区筛查队列（n = 286；中位年龄， 78 岁；四分位数范围，71-84 岁；149 [52%] 男性）。在没有筛查组的社区队列中的 1235 名患者中，16 名患者（1.3%；95% CI，0.7%-2.1%）患有临床认可的 ATTR-CM。男性患病率为 2.5%（95% CI，1.4%-4.0%），女性患病率为 0%（95% CI，0.0%-0.6%）。在社区筛查队列的 286 名患者中，18 名患者（6.3%；95% CI，3.8%-9.8%）患有 ATTR-CM。随着年龄的增长，患病率从 60 至 69 岁患者的 0% 增加到 90 岁及以上患者的 21%（P <.001）。调整年龄后，ATTR-CM 患病率因性别而异，149 名男性中有 15 名（10.1%；95% CI，5.7%-16.1%），137 名女性中有 3 名（2.2%；95% CI，0.4%-6.3%）具有 ATTR-CM ( P  = .002)。

结论和相关性 在这项基于社区环境的队列研究中，ATTR-CM 存在于大量心室壁增厚的 HFpEF 病例中，尤其是老年男性。这些结果表明，系统评估可以增加 ATTR-CM 的诊断，从而提供 HFpEF 的治疗相关表型。