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Marked variation in heritability estimates of left ventricular mass depending on modality of measurement.

ABSTRACT: Left ventricular (LV) hypertrophy is a strong risk factor for heart failure and cardiovascular death. ECG measures of LV mass are estimated as heritable in twin and family-based analyses and heritability estimates of LV mass measured by echocardiography are lower. We hypothesised that CMR-derived measurements, being more precise than echocardiographic measurements, would advance our understanding of heritable LV traits. We phenotyped 116 British families (427 individuals) by CMR and ECG, and undertook heritability analyses using variance-components (QTDT) and GWAS SNP-based (GCTA-GREML) methods. ECG-based traits such as LV mass and Sokolow-Lyon duration showed substantial estimates of heritability (60%), whereas CMR-derived LV mass was only modestly heritable (20%). However, the ECG LV mass was positively correlated with the lateral diameter of the chest (rho?=?0.67), and adjustment for this attenuated the heritability estimate (42%). Finally, CMR-derived right ventricular mass showed considerable heritability (44%). Heritability estimates of LV phenotypes show substantial variation depending on the modality of measurement, being greater when measured by ECG than CMR. This may reflect the differences between electrophysiological as opposed to anatomical hypertrophy. However, ECG LV hypertrophy traits are likely to be influenced by genetic association with anthropometric measures, inflating their overall measured heritability.

SUBMITTER: Nethononda RM

PROVIDER: S-EPMC6753112 | biostudies-literature | 2019 Sep

REPOSITORIES: biostudies-literature

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Marked variation in heritability estimates of left ventricular mass depending on modality of measurement.

Nethononda Richard M RM McGurk Kathryn A KA Whitworth Polly P Francis Jane J Mamasoula Chysovalanto C Cordell Heather J HJ Neubauer Stefan S Keavney Bernard D BD Mayosi Bongani M BM Farrall Martin M Watkins Hugh H

Scientific reports 20190919 1

Left ventricular (LV) hypertrophy is a strong risk factor for heart failure and cardiovascular death. ECG measures of LV mass are estimated as heritable in twin and family-based analyses and heritability estimates of LV mass measured by echocardiography are lower. We hypothesised that CMR-derived measurements, being more precise than echocardiographic measurements, would advance our understanding of heritable LV traits. We phenotyped 116 British families (427 individuals) by CMR and ECG, and und ...[more]

PMID: 31537879

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Project description:IntroductionEchocardiographic assessment of the left ventricle (LV) begins with the measurement of linear dimensions that approximate its ellipsoid diameter. These linear dimensions have historically been measured at the basal level of the LV, which is not representative of its true diameter. The objective of this study was to determine the optimal level to measure LV cavity dimensions to more accurately estimate its size and mass.MethodsThe derivation study included 75 patients who had a clinically indicated cardiac magnetic resonance (CMR) exam for ischemic heart disease (n = 15), nonischemic cardiomyopathy (n = 25), or normal studies (n = 35). The three-chamber bright blood cine sequence was analyzed using a custom MATLAB program to measure the LV cavity diameter and wall thickness at 15 equidistant levels from base to apex. The linear measurements from each of these levels were compared against the CMR volumetric reference standard. The validation study included 100 patients who had a clinically indicated echocardiogram and CMR within 3 days for ischemic heart disease (n = 20), nonischemic cardiomyopathy (n = 44), and normal or near-normal studies (n = 36). The parasternal long-axis cine sequence was analyzed to measure the LV cavity diameter and wall thickness at the traditional basal level and the midventricular level, which were compared against the CMR volumetric reference standard.ResultsIn both the derivation and validation studies, the midventricular linear dimensions, defined as those located at the true (maximal) diameter of the LV ellipsoid cavity, were found to be more closely correlated with the volumetric reference standard for LV mass, LV end-diastolic size, and LV ejection fraction.ConclusionsMeasurement of linear dimensions at the midventricular level better reflects the ellipsoid geometry of the LV cavity and provides a more accurate estimate of LV mass, size, and systolic function as compared with the traditionally recommended basal level.

Project description:BACKGROUND:Recent studies concerning left ventricular noncompaction (LVNC) suggest that the extent of left ventricular (LV) hypertrabeculation has no impact on prognosis. The variety of methods of LV noncompacted myocardial mass (NCM) assessment may influence the results. Hence, we compared two methods of NCM estimation: largely observer-independent Hautvast's(H) computed algorithm-based approach and commonly used Jacquier's(J) method, and their associations with LV end-diastolic volume (EDV) and ejection fraction (EF). METHODS:Cardiac magnetic resonance images of 77 persons (45±17yo) - 42 LVNC, 15 non-ischemic dilative cardiomyopathy, 20 control group were analyzed. LVNC patients were divided into the subgroup with normal (LVNCN) and high EDV (LVNCDCM). NCM and total left ventricular mass (LVM) were estimated by Hautvast's [excluding intertrabecular blood (ITB) and including papillary muscles (PMs) into NCM] and Jacquier's approach (including ITB and PMs, if unclearly distinguished, into NCM). RESULTS:The cut-off value of NCM for LVNC diagnosis was 22% (AUC 0.933) for NCMH/LVMH and 26% (AUC 0.883) for NCMJ/LVMJ. Inter- and intra-observer variability (estimated by coefficient of variation [CoV] and intraclass correlation coefficient [ICC]) of NCMH/LVMH appeared better than of NCMJ/LVMJ (CoV 4.3%, ICC 0.981 and CoV 4.9%, ICC 0.978; respectively for NCMH/LVMH, while for NCMJ/LVMJ: CoV 19.7%, ICC 0.15 and CoV 12.9%, ICC 0.504). In LVNCN subgroup, the correlation between EDV and NCMH was stronger than NCMJ (r = 0.677, p<0.001 vs. r = 0.480, p = 0.038; respectively). In LVNC the EDV correlated with NCMH/LVMH (r = 0.391, p<0.01), but not with NCMJ/LVMJ. In the overall group a relationship was present between EF and NCMH/LVMH (r = -0.449, p<0.001), but not NCMJ/LVMJ. Only NCMH/LVMH explained the variability of EDV (b 0.434, p<0.001). CONCLUSIONS:Choosing a method of NCM assessment that is less observer-dependent might increase the reliability of results. The impact of method selection on the LV parameters and cut-off values for hypertrabeculation should be further investigated.

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Marked variation in heritability estimates of left ventricular mass depending on modality of measurement.

Publications

Marked variation in heritability estimates of left ventricular mass depending on modality of measurement.

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