Left ventricular global longitudinal strain and diagnostic yield of genetic testing in hypertrophic cardiomyopathy in a multicenter registry analysis

Left ventricular global longitudinal strain and diagnostic yield of genetic testing in hypertrophic cardiomyopathy in a multicenter registry analysis

Abstract In this multicenter study we investigated whether echocardiography-derived left ventricular global longitudinal strain (LV GLS), an indicator of myocardial fibrosis, independently predicts a positive genotype in hypertrophic cardiomyopathy (HCM). We performed a cross-sectional analysis incl...

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Main Authors: Viktoria Santner, Viktoria Höller, Maria Ungericht, Nora Schwegel, David Zach, Heidelis Tichy, Gert Waltl, Richard Belciug, Markus Wallner, Johannes Gollmer, Ewald Kolesnik, Peter P. Rainer, Dirk von Lewinski, Klemens Ablasser, Sabine Rudnik-Schöneborn, Gerhard Pölzl, Ellen Heitzer, Andreas Zirlik, Nicolas Verheyen
Format: Article
Language:English
Published: Nature Portfolio 2025-07-01
Series:Scientific Reports
Subjects:
Hypertrophic cardiomyopathy
Echocardiography
Strain
Myocardial fibrosis
Genetic testing
Genotype
Online Access:https://doi.org/10.1038/s41598-025-05696-5
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Summary:Abstract In this multicenter study we investigated whether echocardiography-derived left ventricular global longitudinal strain (LV GLS), an indicator of myocardial fibrosis, independently predicts a positive genotype in hypertrophic cardiomyopathy (HCM). We performed a cross-sectional analysis including HCM patients with genetic testing results and echocardiographic data from two Austrian HCM registries. Echocardiographic parameters were measured in post-processing analysis by a blinded investigator. Among 125 patients with HCM, a positive genotype was present in 39%. Worse LV GLS was associated with a positive genotype in univariate analysis (Odds Ratio [OR] 95% CI 1.141, 1.018–1.279, p = 0.023). In multivariate regression analysis adjusted for genotype predictors (age at diagnosis < 45 years, arterial hypertension, positive family history of HCM, maximal to posterior wall thickness [MWTH: PWTH], reverse curve septal phenotype), the reverse curve septal phenotype remained as a single independent predictor of genotype-positive HCM (OR 6.948, 2.342–20.614, p < 0.001). Adding LV GLS to established Toronto and Mayo genotype prediction scores did not improve their performance. To conclude, worse LV GLS was not independently associated with genotype-positive HCM and did not improve the diagnostic yield of genetic testing in HCM in a multivariate model. Our study highlights the reverse curve septal phenotype as the strongest genotype predictor in HCM.
ISSN:2045-2322

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