基于人口统计学的肥厚型心肌病诊断个性化左心室肥厚阈值

Demographic-Based Personalized Left Ventricular Hypertrophy Thresholds for Hypertrophic Cardiomyopathy Diagnosis.

作者信息

Shiwani Hunain, Davies Rhodri H, Topriceanu Constantin-Cristian, Ditaranto Raffaello, Owens Anjali, Raman Betty, Augusto João, Hughes Rebecca K, Torlasco Camilla, Dowsing Ben, Artico Jessica, Joy George, Miranda Inês, Witschey Walter, Rodriguez-Palomares Jose F, Badia-Molins Clara, Crotti Lia, Cortina-Borja Mario, Chuang Michael L, Kwong Raymond Y, Kramer Christopher M, Manning Warren, Ho Carolyn Y, Kellman Peter, Hughes Alun D, Biagini Elena, Mohiddin Saidi, Lopes Luis, Litt Harold, Ferrari Victor A, Captur Gabriella, Moon James C

机构信息

Barts Heart Centre, Barts Health NHS Trust, West Smithfield, London, United Kingdom; Institute of Cardiovascular Science, University College London, London, United Kingdom.

出版信息

J Am Coll Cardiol. 2025 Feb 25;85(7):685-695. doi: 10.1016/j.jacc.2024.10.082. Epub 2025 Jan 8.

DOI:10.1016/j.jacc.2024.10.082

PMID:39772357

Abstract

BACKGROUND

Hypertrophic cardiomyopathy (HCM) is a leading cause of sudden cardiac death. Current diagnosis emphasizes the detection of left ventricular hypertrophy (LVH) using a fixed threshold of ≥15-mm maximum wall thickness (MWT). This study proposes a method that considers individual demographics to adjust LVH thresholds as an alternative to a 1-size-fits-all approach.

METHODS

Left ventricular MWT was measured in 3 cohorts: a Reference Cohort of healthy adults (n = 5,067, no comorbidities), a Population Cohort (n = 43,239, with comorbidities), and an HCM Cohort from 6 international centers (n = 2,424). Measurement used cardiovascular magnetic resonance (CMR) and a validated artificial intelligence algorithm. The Reference Cohort was used to developed demographically adjusted LVH thresholds, and individualized z-scores based on age, sex, and body surface area (BSA), which were used to explore the other cohorts.

RESULTS

The traditional ≥15-mm threshold classified 4.3% (n = 1,854) of the Population Cohort as hypertrophic, with a significant sex skew (89% male). Demographic-adjusted LVH thresholds (range: 10-17 mm) reduced ascertainment to 2.2% (n = 945), reducing the sex skew (56% male). Similar reductions in bias with height, weight, and age also occurred. The HCM cohort was found to have a 2:1 male-to-female ratio. A significant proportion of patients received diagnoses of HCM despite having MWT below the traditional LVH threshold (<15 mm): 27% of female individuals and 18% of male individuals. Using demographic-adjusted LVH thresholds reduced these proportions to 7% of female individuals and 15% of male individuals (P < 0.0001). Female patients had lower absolute MWT (18 mm vs 19 mm; P < 0.001) but higher MWT z-scores (5.1 vs 4.5; P = 0.05).

CONCLUSIONS

Age, sex, and body size influence the normal heart MWT. Using a fixed LVH threshold ≥15 mm biases LVH ascertainment in both population and HCM cohorts. A demographic-adjusted approach for LVH improves ascertainment and diagnostic accuracy.

摘要

背景

肥厚型心肌病（HCM）是心源性猝死的主要原因。目前的诊断强调使用≥15毫米的最大壁厚（MWT）固定阈值来检测左心室肥厚（LVH）。本研究提出了一种考虑个体人口统计学因素来调整LVH阈值的方法，以替代一刀切的方法。

方法

在3个队列中测量左心室MWT：健康成年人参考队列（n = 5067，无合并症）、总体队列（n = 43239，有合并症）以及来自6个国际中心的HCM队列（n = 2424）。测量采用心血管磁共振（CMR）和经过验证的人工智能算法。参考队列用于制定根据人口统计学调整的LVH阈值，以及基于年龄、性别和体表面积（BSA）的个体化z评分，用于研究其他队列。

结果

传统的≥15毫米阈值将总体队列中的4.3%（n = 1854）归类为肥厚型，存在显著的性别偏差（89%为男性）。根据人口统计学调整的LVH阈值（范围：10 - 17毫米）将确诊率降至2.2%（n = 945），减少了性别偏差（56%为男性）。在身高、体重和年龄方面的偏差也有类似程度的降低。发现HCM队列的男女比例为2:1。相当一部分患者尽管MWT低于传统LVH阈值（<15毫米）仍被诊断为HCM：27%的女性个体和18%的男性个体。使用根据人口统计学调整的LVH阈值将这些比例分别降至7%的女性个体和15%的男性个体（P < 0.0001）。女性患者的绝对MWT较低（18毫米对19毫米；P < 0.001），但MWT z评分较高（5.1对4.5；P = 0.05）。