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Diagnostic CMR Imaging Criteria in Noncompaction Cardiomyopathy and the Yield of Genetic Testing.
Diagnostic CMR Imaging Criteria in Noncompaction Cardiomyopathy and the Yield of Genetic Testing. The Canadian journal of cardiology van Waning, J. I., Caliskan, K. n., Chelu, R. G., van der Velde, N. n., Pezzato, A. n., Michels, M. n., van Slegtenhorst, M. A., Boersma, E. n., Nieman, K. n., Majoor-Krakauer, D. n., Hirsch, A. n. 2020Abstract
Noncompaction cardiomyopathy (NCCM) is characterized by a thickened myocardial wall with excessive trabeculations of the left ventricle and around 30% is explained by a (likely) pathogenic variant ((L)PV) in a cardiomyopathy gene. Diagnosing a (L)PV is important because it allows to identify accurately which relatives are at risk and helps predicting prognosis. The goal of the study was to assess which specific clinical and morphological characteristics of the myocardium may predict a (L)PV and which of the Cardiovascular Magnetic Resonance Imaging (CMR) diagnostic criteria for NCCM can best be used for that purpose.Sixty-two NCCM patients, diagnosed by echocardiographic Jenni criteria, had a CMR 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 a (L)PV.Thirty-three (53%) NCCM patients had a (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 a (L)PV were familial cardiomyopathy, trabecular mass, and meeting Petersen criteria in =2 out of 3 long axis views, while left bundle branch block and hypertension were negative predictors. The ROC-curve of this multivariate model had an area under the curve of 0.89 (95%CI 0.82-0.97).CMR criteria together with family history help to distinguish those patients in whom a (L)PV can be identified, consequently leading to referral for genetic diagnostics and cascade screening.
View details for DOI 10.1016/j.cjca.2020.05.021
View details for PubMedID 32445794