Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
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SHR Neuro Krebs Kardio Lipid Stoffw Microb
Santner, V; Höller, V; Ungericht, M; Schwegel, N; Zach, D; Tichy, H; Waltl, G; Belciug, R; Wallner, M; Gollmer, J; Kolesnik, E; Rainer, PP; von, Lewinski, D; Ablasser, K; Rudnik-Schöneborn, S; Pölzl, G; Heitzer, E; Zirlik, A; Verheyen, N.
Left ventricular global longitudinal strain and diagnostic yield of genetic testing in hypertrophic cardiomyopathy in a multicenter registry analysis.
Sci Rep. 2025; 15(1):22573
Doi: 10.1038/s41598-025-05696-5
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- Führende Autor*innen der Med Uni Graz
- Santner Viktoria
- Verheyen Nicolas Dominik
- Co-Autor*innen der Med Uni Graz
- Ablasser Klemens
- Gollmer Johannes
- Heitzer Ellen
- Höller Viktoria
- Kolesnik Ewald
- Rainer Peter
- Schwegel Nora
- Tichy Heidelis Anna
- von Lewinski Dirk
- Wallner Markus
- Zach David
- Zirlik Andreas
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- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Humans - administration & dosage
- Cardiomyopathy, Hypertrophic - genetics, diagnosis, diagnostic imaging, physiopathology
- Male - administration & dosage
- Female - administration & dosage
- Middle Aged - administration & dosage
- Genetic Testing - administration & dosage
- Registries - administration & dosage
- Echocardiography - administration & dosage
- Cross-Sectional Studies - administration & dosage
- Adult - administration & dosage
- Heart Ventricles - diagnostic imaging, physiopathology
- Genotype - administration & dosage
- Aged - administration & dosage
- Phenotype - administration & dosage
- Austria - administration & dosage
- Global Longitudinal Strain - administration & dosage
- Find related publications in this database (Keywords)
- Hypertrophic cardiomyopathy
- Echocardiography
- Strain
- Myocardial fibrosis
- Genetic testing
- Genotype