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dc.contributor.authorLo, A
dc.contributor.authorRuane, L
dc.contributor.authorMew, T
dc.contributor.authorMew, C
dc.contributor.authorGuppy-Coles, K
dc.contributor.authorNg, A
dc.contributor.authorMcGaughran, J
dc.contributor.authorPrasad, S
dc.contributor.authorAtherton, J
dc.date.accessioned2023-05-24T02:42:14Z
dc.date.available2023-05-24T02:42:14Z
dc.date.issued2022
dc.identifier.issn0195-668Xen_US
dc.identifier.doi10.1093/eurheartj/ehac544.1717en_US
dc.identifier.urihttp://hdl.handle.net/10072/423013
dc.description.abstractBackground 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.languageEnglishen_US
dc.publisherOxford University Pressen_US
dc.relation.ispartofconferencenameESC Congress 2022en_US
dc.relation.ispartofconferencetitleESC Congress 2022en_US
dc.relation.ispartofdatefrom2022-08-26
dc.relation.ispartofdateto2022-08-29
dc.relation.ispartoflocationBarcelona, Spainen_US
dc.relation.ispartofpagefrom1717en_US
dc.relation.ispartofpageto1717en_US
dc.relation.ispartofissueSupplement_2en_US
dc.relation.ispartofjournalEuropean Heart Journalen_US
dc.relation.ispartofvolume43en_US
dc.subject.fieldofresearchCardiology (incl. cardiovascular diseases)en_US
dc.subject.fieldofresearchClinical sciencesen_US
dc.subject.fieldofresearchcode320101en_US
dc.subject.fieldofresearchcode3202en_US
dc.subject.keywordsCardiac & Cardiovascular Systemsen_US
dc.subject.keywordsCardiovascular System & Cardiologyen_US
dc.subject.keywordsLife Sciences & Biomedicineen_US
dc.subject.keywordsScience & Technologyen_US
dc.titleUse of advanced echocardiographic modalities to discriminate preclinical HCM mutation carriers from non-carriersen_US
dc.typeConference outputen_US
dc.type.descriptionE3 - Conferences (Extract Paper)en_US
dcterms.bibliographicCitationLo, 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. 1717-1717en_US
dc.date.updated2023-05-24T01:20:55Z
gro.hasfulltextNo Full Text
gro.griffith.authorPrasad, Sandhir B.


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