Late Gadolinium Enhancement for Prediction of Mutation-Positive Hypertrophic Cardiomyopathy on the Basis of Panel-Wide Sequencing

DOI Web Site Web Site PubMed 43 References Open Access
  • Teramoto Ryota
    Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medicine
  • Fujino Noboru
    Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medicine
  • Konno Tetsuo
    Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medicine
  • Nomura Akihiro
    Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medicine
  • Nagata Yoji
    Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medicine
  • Tsuda Toyonobu
    Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medicine
  • Tada Hayato
    Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medicine
  • Sakata Kenji
    Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medicine
  • Yamagishi Masakazu
    Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medicine
  • Hayashi Kenshi
    Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medicine
  • Kawashiri Masa-aki
    Department of Cardiovascular and Internal Medicine, Kanazawa University Graduate School of Medicine

Search this article

Abstract

<p>Background:Cardiac magnetic resonance (CMR) with late gadolinium enhancement (LGE) revealed a substantial variation in the extent of myocardial scarring, a pathological hallmark of hypertrophic cardiomyopathy (HCM). However, few data exist regarding the relationship between the presence of gene mutations and the extent of LGE. Therefore, we aimed to investigate whether variations in the extent of LGE in HCM patients can be explained by the presence or absence of disease-causing mutations.</p><p>Methods and Results:We analyzed data from 82 unrelated HCM patients who underwent both LGE-CMR and next-generation sequencing. We identified disease-causing sarcomere gene mutations in 44 cases (54%). The extent of LGE on CMR was an independent factor for predicting mutation-positive HCM (odds ratio 2.12 [95% confidence interval 1.51–3.83], P<0.01). The area under the curve of %LGE was greater than that of the conventional Toronto score for predicting the presence of a mutation (0.96 vs. 0.69, P<0.01). Sensitivity, specificity, positive predictive value, and negative predictive value of %LGE (cutoff >8.1%) were 93.2%, 89.5%, 91.1%, and 91.9%, respectively.</p><p>Conclusions:The results demonstrated that %LGE clearly discriminated mutation-positive from mutation-negative HCM in a clinically affected HCM population. HCM with few or no myocardial scars may be genetically different from HCM with a higher incidence of myocardial scars.</p>

Journal

  • Circulation Journal

    Circulation Journal 82 (4), 1139-1148, 2018

    The Japanese Circulation Society

References(43)*help

See more

Related Projects

See more

Keywords

Details 詳細情報について

Report a problem

Back to top