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. 2021 Dec 7;10(23):e022544.
doi: 10.1161/JAHA.121.022544. Epub 2021 Nov 30.

Myocardial Strain and Association With Clinical Outcomes in Danon Disease: A Model for Monitoring Progression of Genetic Cardiomyopathies

Quan M Bui  1 , Kimberly N Hong  1 , Megan Kraushaar  1 , Gary S Ma  1 , Michela Brambatti  1 , Andrew M Kahn  1 , Carol Elias Battiha  1 , Kylie Boynton  2 , Garrett Storm  2 , Luisa Mestroni  2 , Matthew R G Taylor  2 , Anthony N DeMaria  1 , Eric A Adler  1
Affiliations

Myocardial Strain and Association With Clinical Outcomes in Danon Disease: A Model for Monitoring Progression of Genetic Cardiomyopathies

Quan M Bui et al. J Am Heart Assoc. .

Abstract

Background Myocardial strain can identify subclinical left ventricular dysfunction in various cardiac diseases, but its association with clinical outcomes in genetic cardiomyopathies remains unknown. Herein, we assessed myocardial strain in patients with Danon disease (DD), a rare X-linked autophagic disorder that causes severe cardiac manifestations. Methods and Results Echocardiographic images were reviewed and used to calculate myocardial strain from a retrospective, international registry of patients with DD. Regression analyses were performed to evaluate for an association of global longitudinal strain (GLS) and ejection fraction with the composite outcome (death, ventricular assist device, heart transplantation, and implantable cardioverter defibrillator for secondary prevention). A total of 22 patients with DD (male 14 [63.6%], median age 16.5 years) had sufficient echocardiograms for analysis. Absolute GLS was reduced with a mean of 12.2% with an apical-sparing pattern observed. Univariable regression for GLS and composite outcome showed an odds ratio of 1.32 (95% CI, 1.02-1.71) with P=0.03. For receiver operating characteristic analysis, the areas under the curve for GLS and ejection fraction were 0.810 (P=0.02) and 0.605 (P=0.44), respectively. An absolute GLS cutoff of 10.0% yielded a true positive rate of 85.7% and false positive rate of 13.3%. Conclusions In this cohort of patients with DD, GLS may be a useful assessment of myocardial function and may predict clinical outcomes. This study highlights the potential use of myocardial strain phenotyping to monitor disease progression and potentially to predict clinical outcomes in DD and other genetic cardiomyopathies.

Keywords: Danon disease; echocardiography; ejection fraction; genetic cardiomyopathy; hypertrophic cardiomyopathy; left ventricular hypertrophy; strain.

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Figures

Figure 1
Figure 1. Study selection and flow diagram.
DD indicates Danon disease.
Figure 2
Figure 2. Observed differences in regional longitudinal strain.
A regional longitudinal strain gradient was observed from base to apex that was significant.
Figure 3
Figure 3. Representative Danon disease longitudinal strain bull’s eye plots.
Representative bull’s eye plots from male and female patients with Danon disease demonstrate an apical sparing that is similar to the “cherry on top” pattern seen with cardiac amyloidosis. Lat indicates lateral; and Sep indicates septal.
Figure 4
Figure 4. GLS stratified by composite outcome.
GLS indicates global longitudinal strain.
Figure 5
Figure 5. Receiver operating curve for global longitudinal strain and ejection fraction for the composite outcomes.
Figure 6
Figure 6. Scatter plots of (A) GLS and (B) EF with time.
*, Composite outcome; green *, Heart transplant. Scatter plots of global longitudinal strain (GLS) and ejection fraction (EF) with time. All echocardiograms including patients with multiple studies were used to form the plots.
See this image and copyright information in PMC

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