Differences in left ventricular mass and morphology and right ventricular function differentiate phenotype-negative sarcomere gene mutation carriers from healthy volunteers
| Autor: | H.C Hassing, M. van Slegtenhorst, Michelle Michels, R P J Budde, Alexander Hirsch, N. van der Velde, Judith M.A. Verhagen, Roy Huurman, Arend F.L. Schinkel |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
medicine.medical_specialty
Ventricular function business.industry General Medicine Gene mutation Sarcomere Phenotype Left ventricular mass Internal medicine Healthy volunteers Cardiology medicine Radiology Nuclear Medicine and imaging cardiovascular diseases Cardiology and Cardiovascular Medicine business |
| Zdroj: | European Heart Journal - Cardiovascular Imaging. 22 |
| ISSN: | 2047-2412 2047-2404 |
| DOI: | 10.1093/ehjci/jeaa356.390 |
| Popis: | Funding Acknowledgements Type of funding sources: None. Carriers of pathogenic DNA variants (G+) causing hypertrophic cardiomyopathy (HCM) can be identified by genetic testing, before manifestation of left ventricular hypertrophy (LVH). These G+/LVH- subjects are routinely monitored for phenotypic expression, which, alongside LVH, can include other HCM-related abnormalities, including crypts and myocardial fibrosis. Cardiovascular magnetic resonance (CMR) imaging has emerged as a valuable technique in diagnosing and follow-up of HCM. In this study, we identified clinical features of subclinical HCM in a G+/LVH- population compared to healthy subjects. We studied 33 G+ subjects with CMR and a maximal wall thickness (MWT) G+ subjects had a higher MWT (10.9 ± 1.6 vs 10.2 ± 1.3 mm, p = 0.04), a similar interventricular septal wall (IVS) thickness (8.8 ± 1.6 vs 8.7 ± 1.6 mm, p = 0.85), a smaller posterior wall (PW) and a higher IVS/PW ratio (6.6 ± 1.2 vs 7.7 ± 1.3mm, p CMR demonstrates significant morphological differences between the G+/LVH- population and healthy controls. Further studies are needed to assess the prognostic significance of these morphological features. Predictors of genotype-positive status Variables G+ subjects (n = 33) Controls (n = 35) P value OR for G+ status P value Left ventricular mass/BSA (g/m²) 45 ± 7.4 53 ± 7.9 |
| Databáze: | OpenAIRE |
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