dc.contributor.author | Lo, A | |
dc.contributor.author | Ruane, L | |
dc.contributor.author | Mew, T | |
dc.contributor.author | Mew, C | |
dc.contributor.author | Guppy-Coles, K | |
dc.contributor.author | Ng, A | |
dc.contributor.author | McGaughran, J | |
dc.contributor.author | Prasad, S | |
dc.contributor.author | Atherton, J | |
dc.date.accessioned | 2023-05-24T02:42:14Z | |
dc.date.available | 2023-05-24T02:42:14Z | |
dc.date.issued | 2022 | |
dc.identifier.issn | 0195-668X | en_US |
dc.identifier.doi | 10.1093/eurheartj/ehac544.1717 | en_US |
dc.identifier.uri | http://hdl.handle.net/10072/423013 | |
dc.description.abstract | Background
It is a challenging goal to identify which family members of patients with hypertrophic cardiomyopathy (HCM) will subsequently develop HCM. Previous studies evaluating the utility of two-dimensional conventional Doppler echocardiography in HCM families with a known pathogenic variant identified on genetic testing have been unable to reliably distinguish preclinical genotype-positive, phenotype-negative (G+P−) individuals from their healthy genotype-negative, phenotype-negative (G−P−) relatives.
Purpose
To determine if advanced echocardiographic modalities can discriminate preclinical HCM mutation carriers (G+P−) from non-carriers (G−P−).
Methods
A total of 199 participants who had undergone genetic testing from HCM families with a known pathogenic variant were included in the study: 39 G−P−; 58 G+P− and 102 overt HCM patients (G+P+). Speckle tracking echocardiography (STE) and colour M-mode were performed on all participants and longitudinal, circumferential and radial strain, and torsion were compared.
Results
Patients with overt HCM had the highest septal, posterior wall thickness, septum/posterior wall (Sep/PW) thickness ratio and left ventricular outflow tract (LVOT) gradient and lowest global longitudinal, circumferential and radial strain, and tissue Doppler-derived myocardial systolic and diastolic velocities. Comparing G−P− and G+P− individuals, there were no significant differences in LV cavity size, wall thickness, LVOT gradient, LVEF and tissue Doppler-derived myocardial systolic and diastolic velocities. However, G+P− individuals had significantly higher peak apical rotation, peak twist and colour M-mode flow propagation velocity (Vp). Multivariate linear regression identified two independent predictors (peak apical rotation and Vp), and a regression equation (using multivariate linear regression) {Mutation carrier prediction value = (0.210×peak apical rotation) − (0.002×Vp) + 0.156; r=0.655)} was derived which allowed reliable discrimination of G+P- individuals with a sensitivity of 95.2% and specificity of 94.1% at the optimal cut-off.
Conclusion
In HCM family members without overt HCM, peak apical rotation and Vp provide good sensitivity and specificity for identifying mutation carriers and may be a clinically useful early marker of HCM before the onset of hypertrophy. Future longitudinal studies involving larger cohorts are required to validate these findings.
Funding Acknowledgement
Type of funding sources: None. | en_US |
dc.language | English | en_US |
dc.publisher | Oxford University Press | en_US |
dc.relation.ispartofconferencename | ESC Congress 2022 | en_US |
dc.relation.ispartofconferencetitle | ESC Congress 2022 | en_US |
dc.relation.ispartofdatefrom | 2022-08-26 | |
dc.relation.ispartofdateto | 2022-08-29 | |
dc.relation.ispartoflocation | Barcelona, Spain | en_US |
dc.relation.ispartofpagefrom | 1717 | en_US |
dc.relation.ispartofpageto | 1717 | en_US |
dc.relation.ispartofissue | Supplement_2 | en_US |
dc.relation.ispartofjournal | European Heart Journal | en_US |
dc.relation.ispartofvolume | 43 | en_US |
dc.subject.fieldofresearch | Cardiology (incl. cardiovascular diseases) | en_US |
dc.subject.fieldofresearch | Clinical sciences | en_US |
dc.subject.fieldofresearchcode | 320101 | en_US |
dc.subject.fieldofresearchcode | 3202 | en_US |
dc.subject.keywords | Cardiac & Cardiovascular Systems | en_US |
dc.subject.keywords | Cardiovascular System & Cardiology | en_US |
dc.subject.keywords | Life Sciences & Biomedicine | en_US |
dc.subject.keywords | Science & Technology | en_US |
dc.title | Use of advanced echocardiographic modalities to discriminate preclinical HCM mutation carriers from non-carriers | en_US |
dc.type | Conference output | en_US |
dc.type.description | E3 - Conferences (Extract Paper) | en_US |
dcterms.bibliographicCitation | Lo, A; Ruane, L; Mew, T; Mew, C; Guppy-Coles, K; Ng, A; McGaughran, J; Prasad, S; Atherton, J, Use of advanced echocardiographic modalities to discriminate preclinical HCM mutation carriers from non-carriers, European Heart Journal, 2022, 43 (Supplement_2), pp. 1717-1717 | en_US |
dc.date.updated | 2023-05-24T01:20:55Z | |
gro.hasfulltext | No Full Text | |
gro.griffith.author | Prasad, Sandhir B. | |