Background

Noncompaction cardiomyopathy (NCCM) is characterized by a thickened myocardial wall with excessive trabeculations of the left ventricle, and ∼30% is explained by a (likely) pathogenic variant [(L)PV] in a cardiomyopathy gene. Diagnosing an (L)PV is important because it allows accurate identification of which relatives are at risk and helps predicting prognosis. The goal of this study was to assess which specific clinical and morphologic characteristics of the myocardium may predict an (L)PV and which of the cardiovascular magnetic resonance (CMR) diagnostic criteria for NCCM can best be used for that purpose.

Methods

Sixty-two patients with NCCM, diagnosed by means of echocardiographic Jenni criteria, underwent CMR imaging that was evaluated according the Petersen, Stacey, Jacquier, Captur, and Choi diagnostic CMR criteria for NCCM. Patients also underwent DNA testing and were stratified according to having an (L)PV.

Results

Thirty-three patients (53%) with NCCM had an (L)PV. The apical and mid-lateral segments were the dominant locations for meeting Petersen and/or Stacey criteria. Correlation between different CMR criteria varied from moderate to very strong. In multivariate binary logistic regression analysis with CMR and non-CMR parameters, independent positive predictors for an (L)PV were familial cardiomyopathy, trabecular mass, and meeting Petersen criteria in ≥ 2 out of 3 long-axis views, whereas left bundle branch block and hypertension were negative predictors. The receiver operating characteristic curve of this multivariate model had an area under the curve of 0.89 (95% confidence interval 0.82-0.97).

Conclusions

CMR criteria together with family history help to distinguish those patients in whom an (L)PV can be identified, consequently leading to referral for genetic diagnostics and cascade screening.

中文翻译：

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非致密化心肌病的诊断心血管磁共振成像标准和基因检测的产量

背景

非致密性心肌病 (NCCM) 的特征是心肌壁增厚，左心室小梁过多，约 30% 的原因是心肌病基因中的（可能的）致病性变异 [(L)PV]。诊断 (L)PV 很重要，因为它可以准确识别哪些亲属有风险并有助于预测预后。本研究的目的是评估心肌的哪些特定临床和形态学特征可以预测 (L)PV，以及哪些 NCCM 的心血管磁共振 (CMR) 诊断标准最适合用于该目的。

方法

62 名通过超声心动图 Jenni 标准诊断的 NCCM 患者接受了 CMR 成像，根据 Petersen、Stacey、Jacquier、Captur 和 Choi 的 NCCM 诊断 CMR 标准进行了评估。患者还接受了 DNA 检测，并根据 (L)PV 进行了分层。

结果

33 名 NCCM 患者 (53%) 有 (L)PV。顶端和中外侧段是满足 Petersen 和/或 Stacey 标准的主要位置。不同 CMR 标准之间的相关性从中等到非常强不等。在使用 CMR 和非 CMR 参数的多元二元逻辑回归分析中，(L)PV 的独立阳性预测因子是家族性心肌病、小梁质量，并且在 3 个长轴视图中的 ≥ 2 个满足 Petersen 标准，而左束支传导阻滞和高血压是负面预测因素。该多变量模型的接收者操作特征曲线的曲线下面积为 0.89（95% 置信区间 0.82-0.97）。

结论

CMR 标准和家族史有助于区分那些可以识别 (L)PV 的患者，从而导致转诊进行基因诊断和级联筛查。