Could two-dimensional radial strain be considered as a novel tool to identify pre-clinical hypertrophic cardiomyopathy mutation carriers?
| Autor: | Francesca Casadei, Rita Facchetti, Cristina Giannattasio, Emanuela Manfredini, Francesco Musca, Alessandro Maloberti, Francesca Spanò, Lucia Occhi, Fabio Turazza, Oriana Belli, G Santambrogio, Antonella Moreo, P. Vallerio, Angelica Peritore, Benedetta De Chiara |
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| Přispěvatelé: | Santambrogio, G, Maloberti, A, Vallerio, P, Peritore, A, Spanò, F, Occhi, L, Musca, F, Belli, O, De Chiara, B, Casadei, F, Facchetti, R, Turazza, F, Manfredini, E, Giannattasio, C, Moreo, A |
| Rok vydání: | 2019 |
| Předmět: |
Adult
Male medicine.medical_specialty Adolescent TNNT2 DNA Mutational Analysis 030204 cardiovascular system & hematology Left ventricular hypertrophy Ventricular Function Left Strain Muscle hypertrophy Young Adult 03 medical and health sciences Basal (phylogenetics) 0302 clinical medicine Troponin T Predictive Value of Tests Internal medicine medicine Humans Genetic Predisposition to Disease Radiology Nuclear Medicine and imaging 030212 general & internal medicine Aged Myosin Heavy Chains Receiver operating characteristic business.industry Hypertrophic cardiomyopathy Reproducibility of Results Cardiomyopathy Hypertrophic Middle Aged medicine.disease Phenotype Echocardiography Case-Control Studies Mutation Mutation (genetic algorithm) Sarcomeric mutation Cardiology Female MYH7 Carrier Proteins Cardiology and Cardiovascular Medicine business Cardiac Myosins |
| Zdroj: | The International Journal of Cardiovascular Imaging. 35:2167-2175 |
| ISSN: | 1573-0743 1569-5794 |
| Popis: | Treatment of overt form of hypertrophic cardiomyopathy (HCM) is often unsuccessful. Efforts are focused on a possible early identification in order to prevent or delaying the development of hypertrophy. Our aim was to find an echocardiographic marker able to distinguish mutation carriers without left ventricular hypertrophy (LVH) from healthy subjects. We evaluated 28 patients, members of eight families. Three types of mutation were recognized: MYBPC3 (five families), MYH7 (two families) and TNNT2 (one family). According to genetic (G) and phenotypic (Ph) features, patients were divided in three groups: Group A (10 patients), mutation carriers with LVH (G+/Ph+); Group B (9 patients), mutation carriers without LVH (G+/Ph−); Group C (9 patients), healthy subjects (G−/Ph−). Echocardiography examination was performed acquiring standard 2D, DTI and 2D-strain imaging. Global longitudinal strain (GLS) and global radial strain (GRS) at basal and mid-level were measured. GRS was significantly different between group B and C at basal level (32.18% ± 9.6 vs. 44.59% ± 12.67 respectively; p-value < 0.0001). In basal posterior and basal inferior segments this difference was particularly evident. ROC curves showed for both the involved segments good AUCs (0.931 and 0.861 for basal posterior and inferior GRS respectively) with the best predictive cut-off for basal posterior GRS at 43.65%, while it was 38.4% for basal inferior GRS. Conversely, GLS values were similar in the three group. 2D longitudinal strain is a valid technique to study HCM. Radial strain and particularly basal posterior and inferior segmental reduction could be able to identify mutation carriers in a pre-clinical phase of disease. |
| Databáze: | OpenAIRE |
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