Brigham and Women's Hospital, Harvard Medical School, Boston, MA (C.G.I., E.J.O., B.C., C.Y.H.).
University of Vermont Larner School of Medicine, Burlington (D.S.B.).
Circ Heart Fail. 2024 Aug;17(8):e011663. doi: 10.1161/CIRCHEARTFAILURE.124.011663. Epub 2024 Aug 1.
The health-related quality of life (HRQOL) and cardiopulmonary exercise testing (CPET) performance of individuals with subclinical and early stage hypertrophic cardiomyopathy (HCM) have not been systematically studied. Improved understanding will inform the natural history of HCM and factors influencing well-being.
VANISH trial (Valsartan for Attenuating Disease Evolution in Early Sarcomeric HCM) participants with early stage sarcomeric HCM (primary analysis cohort) and subclinical HCM (sarcomere variant without left ventricular hypertrophy comprising the exploratory cohort) who completed baseline and year 2 HRQOL assessment via the pediatric quality of life inventory and CPET were studied. Metrics correlating with baseline HRQOL and CPET performance were identified. The impact of valsartan treatment on these measures was analyzed in the early stage cohort.
Two hundred participants were included: 166 with early stage HCM (mean age, 23±10 years; 40% female; 97% White; and 92% New York Heart Association class I) and 34 subclinical sarcomere variant carriers (mean age, 16±5 years; 50% female; and 100% White). Baseline HRQOL was good in both cohorts, although slightly better in subclinical HCM (composite pediatric quality of life score 84.6±10.6 versus 90.2±9.8; =0.005). Both cohorts demonstrated mildly reduced functional status (mean percent predicted peak oxygen uptake 73±16 versus 78±12 mL/kg per minute; =0.18). Percent predicted peak oxygen uptake and peak oxygen pulse correlated with HRQOL. Valsartan improved physical HRQOL in early stage HCM (adjusted mean change in pediatric quality of life score +4.1 versus placebo; =0.01) but did not significantly impact CPET performance.
Functional capacity can be impaired in young, healthy people with early stage HCM, despite New York Heart Association class I status and good HRQOL. Peak oxygen uptake was similarly decreased in subclinical HCM despite normal left ventricular wall thickness and excellent HRQOL. Valsartan improved physical pediatric quality of life scores but did not significantly impact CPET performance. Further studies are needed for validation and to understand how to improve patient experience.
URL: https://www.clinicaltrials.gov; Unique identifier: NCT01912534.
亚临床和早期阶段肥厚型心肌病（HCM）患者的健康相关生活质量（HRQOL）和心肺运动测试（CPET）表现尚未得到系统研究。深入了解将有助于阐明 HCM 的自然病史以及影响幸福感的因素。
VANISH 试验（缬沙坦治疗早期肌节性肥厚型心肌病的疾病演变）的参与者，他们患有早期肌节性 HCM（主要分析队列）和亚临床 HCM（无左心室肥厚的肌节变体，构成探索性队列），通过儿科生活质量清单和 CPET 完成了基线和第 2 年的 HRQOL 评估。确定与基线 HRQOL 和 CPET 表现相关的指标。在早期队列中分析了缬沙坦治疗对这些指标的影响。
共纳入 200 名参与者：166 名患有早期 HCM（平均年龄 23±10 岁；40%为女性；97%为白人；92%为纽约心脏协会心功能 I 级）和 34 名亚临床肌节变体携带者（平均年龄 16±5 岁；50%为女性；100%为白人）。两个队列的基线 HRQOL 都很好，尽管亚临床 HCM 稍好一些（综合儿科生活质量评分 84.6±10.6 与 90.2±9.8；=0.005）。两个队列的功能状态均略有下降（平均预测峰值摄氧量的百分比 73±16 与 78±12 mL/kg·min；=0.18）。预测峰值摄氧量和峰值氧脉搏与 HRQOL 相关。缬沙坦改善了早期 HCM 的体力 HRQOL（调整后的儿科生活质量评分平均变化+4.1 与安慰剂；=0.01），但对 CPET 表现没有显著影响。
尽管纽约心脏协会心功能 I 级和 HRQOL 良好，但在早期 HCM 中，年轻健康人群的功能能力可能会受损。尽管左心室壁厚度正常且 HRQOL 良好，但亚临床 HCM 中也出现了类似的峰值摄氧量下降。缬沙坦提高了体力儿科生活质量评分，但对 CPET 表现没有显著影响。需要进一步的研究来验证并了解如何改善患者体验。
