Baudry Guillaume, Mansencal Nicolas, Reynaud Amelie, Richard Pascale, Dubourg Olivier, Komajda Michel, Isnard Richard, Réant Patricia, Charron Philippe
APHP, Centre de référence pour les maladies cardiaques héréditaires, Hôpital Pitié-Salpêtrière, 47 bvd de l'hôpital, 75013 Paris, France.
HCL, Service Insuffisance cardiaque, Hôpital Louis Pradel, 59 Boulevard Pinel, 69500 Bron, France.
Eur Heart J Cardiovasc Imaging. 2020 Mar 1;21(3):291-298. doi: 10.1093/ehjci/jez084.
Hypertrophic cardiomyopathy (HCM) is a genetic disease with delayed cardiac expression. Our objective was to characterize left ventricular (LV) myocardial strain by two-dimensional echocardiography in sarcomeric mutation carriers before the hypertrophic stage.
We studied 140 adults [derivation cohort (n = 79), validation cohort (n = 61)]. The derivation cohort comprised 38 confirmed HCM patients with hypertrophy (LVH+/Gen+), 20 mutation carriers without LV hypertrophy (LVH-/Gen+), and 21 healthy controls. LV global longitudinal strain was not different in LVH-/Gen+ compared with controls [20.6%, interquartile (IQ): 18.3/24.2 vs. 22.9%, IQ: 20.9/26.8] but was reduced in LVH+/Gen+ patients (14.1%, IQ: 11.8/18.5, P < 0.001). Regional peak longitudinal strain was significantly decreased in LVH-/Gen+ when compared with controls in four segments: basal anteroseptal (BAS) wall (P = 0.018), basal inferoseptal wall (P = 0.047), basal inferior wall (P = 0.006), and mid anteroseptal wall (P = 0.022). Receiver operating characteristic analysis identified that BAS strain <16.5% had a sensitivity (Se), specificity (Sp), positive and negative predictive values (PPV, NPV) of 57%, 90%, 82%, and 67%, respectively, to differentiate LVH-/G+ patients from controls. Similarly, the accuracy of a ratio between basal inferoseptal/basal anterolateral (BIS/BAL) strain <0.76 was 73%, 92%, 82%, and 64%, respectively (Se/Sp/PPV/NPV). In the validation cohort, the accuracy of BAS and BIS/BAL was 39%/93%/87%/57% and 55%/96%/95%/64% (Se/Sp/PPV/NPV), respectively, to differentiate the LVH-/Gen+ group from controls.
Regional longitudinal strain, but not global strain, was significantly reduced at the early stage of HCM before LV hypertrophy. This suggests that the inclusion of strain (BAS < 16.5%; BIS/BAL < 0.76) in the evaluation of HCM relatives would help identify mutation carriers and early LV abnormalities.
肥厚型心肌病（HCM）是一种具有心脏表达延迟的遗传性疾病。我们的目标是通过二维超声心动图对肥厚前期肌节突变携带者的左心室（LV）心肌应变进行特征描述。
我们研究了140名成年人[推导队列（n = 79），验证队列（n = 61）]。推导队列包括38名确诊的肥厚型心肌病患者（LVH+/Gen+），20名无左心室肥厚的突变携带者（LVH-/Gen+），以及21名健康对照者。与对照组相比，LVH-/Gen+患者的左心室整体纵向应变无差异[20.6%，四分位数间距（IQ）：18.3/24.2 vs. 22.9%，IQ：20.9/26.8]，但LVH+/Gen+患者的左心室整体纵向应变降低（14.1%，IQ：11.8/18.5，P < 0.001）。与对照组相比，LVH-/Gen+患者四个节段的区域峰值纵向应变显著降低：基底前间隔（BAS）壁（P = 0.018）、基底后间隔壁（P = 0.047）、基底下壁（P = 0.006）和中间前间隔壁（P = 0.022）。受试者工作特征分析表明，BAS应变<16.5%对区分LVH-/G+患者与对照组的敏感性（Se）、特异性（Sp）、阳性和阴性预测值（PPV、NPV）分别为57%、90%、82%和67%。同样，基底后间隔/基底前外侧（BIS/BAL）应变<0.76的比值的准确性分别为73%、92%、82%和64%（Se/Sp/PPV/NPV）。在验证队列中，BAS和BIS/BAL区分LVH-/Gen+组与对照组的准确性分别为39%/93%/87%/57%和55/%96%/// %（Se/Sp/PPV/NPV）。
在肥厚型心肌病左心室肥厚前期，区域纵向应变而非整体应变显著降低。这表明在肥厚型心肌病亲属评估中纳入应变（BAS < 16.5%；BIS/BAL < 0.76）将有助于识别突变携带者和早期左心室异常。
