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<p>This study aimed to evaluate the role of cardiac magnetic resonance (CMR) in updating The Mayo Clinic Hypertrophic Cardiomyopathy (HCM) Genotype Predictor Score. We performed an analysis of 175 HCM patients with an echocardiogram, CMR, and genetic test at the Mayo Clinic (2004 to 2018). Yield of a positive genetic test for the&#xa0;original echocardiogram-based score ranged from 38% (-1 point) to 100% (4 or 5 points), with an AUC of 0.659. Late gadolinium enhancement (LGE) presence was a strong predictor of positive genetic test (<i>p</i> = 0.002) and was added to the original score to create the updated version. The yield of positive genetic test for the updated score ranged from 25% (-1 point) to 100% (5 or 6 points) (<i>p</i> &lt; 0.001), with an AUC of 0.724 and significant increase in diagnostic accuracy (<i>p</i> = 0.03). The updated genotype predictor score had improved accuracy when compared to the prior version.</p> Graphical Abstract <p>An updated CMR-based Mayo Clinic HCM Genotype Predictor Score was created incorporating LGE. The updated score was associated with improved diagnostic accuracy for a positive genetic test in this HCM cohort. Abbreviations: AUC, area under the curve; CMR, cardiac magnetic resonance; Dx, diagnosis; Hx, history; LGE, late gadolinium enhancement; MLVWT, maximum left ventricular wall thickness; SCD, sudden cardiac death. Figure created using BioRender.</p> <p></p>

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Enhancement of the Mayo Clinic HCM Genotype Predictor Score with Addition of Cardiac Magnetic Resonance Imaging

  • 期刊论文

  • 发表日期：

    2025年7月23日

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  • Iuri Ferreira Felix,
  • Vanessa Karlinski Vizentin,
  • Mateo Alzate-Aguirre,
  • Mehrie Patel,
  • Jeffrey B. Geske,
  • Phillip Araoz,
  • John R. Giudicessi,
  • Steve R. Ommen,
  • Adelaide M. Arruda-Olson,
  • Michael J. Ackerman,
  • J. Martijn Bos

摘要

This study aimed to evaluate the role of cardiac magnetic resonance (CMR) in updating The Mayo Clinic Hypertrophic Cardiomyopathy (HCM) Genotype Predictor Score. We performed an analysis of 175 HCM patients with an echocardiogram, CMR, and genetic test at the Mayo Clinic (2004 to 2018). Yield of a positive genetic test for the original echocardiogram-based score ranged from 38% (-1 point) to 100% (4 or 5 points), with an AUC of 0.659. Late gadolinium enhancement (LGE) presence was a strong predictor of positive genetic test (p = 0.002) and was added to the original score to create the updated version. The yield of positive genetic test for the updated score ranged from 25% (-1 point) to 100% (5 or 6 points) (p < 0.001), with an AUC of 0.724 and significant increase in diagnostic accuracy (p = 0.03). The updated genotype predictor score had improved accuracy when compared to the prior version.

Graphical Abstract

An updated CMR-based Mayo Clinic HCM Genotype Predictor Score was created incorporating LGE. The updated score was associated with improved diagnostic accuracy for a positive genetic test in this HCM cohort. Abbreviations: AUC, area under the curve; CMR, cardiac magnetic resonance; Dx, diagnosis; Hx, history; LGE, late gadolinium enhancement; MLVWT, maximum left ventricular wall thickness; SCD, sudden cardiac death. Figure created using BioRender.