Dataset Information

Contemporary family screening in hypertrophic cardiomyopathy: the role of cardiovascular magnetic resonance.

ABSTRACT:

Aims

Genetic testing in relatives of hypertrophic cardiomyopathy (HCM) patients leads to early identification of pathogenic DNA variant carriers (G+), before the onset of left ventricular hypertrophy. Routine phenotyping consists of electrocardiography (ECG) and transthoracic echocardiography (TTE). Cardiovascular magnetic resonance (CMR) has become valuable in the work-up of HCM. In this study, we investigated the value of CMR in phenotyping of G+ family members.

Methods and results

This study included 91 G+ subjects who underwent ECG, TTE and CMR, with a maximal wall thickness (MWT) <15 mm on TTE. The relative performance of TTE and CMR regarding wall thickness measurements and HCM diagnoses was assessed. HCM was defined as MWT of ≥13 mm. Logistic regression was performed to assess whether ECG and TTE parameters can predict CMR results. Most subjects (75%) had an MWT <13 mm on TTE, of which 23 (34%) were diagnosed with HCM based on CMR. MWT differences (range 1-10 mm) were often caused by an anterobasal hook-shaped thickening of the myocardium not visible on TTE. Two of 23 (9%) subjects with HCM on TTE were reclassified as no HCM on CMR. Normal ECG and TTE results almost excluded reclassifications by CMR. The prevalence of other HCM-related abnormalities on CMR was low.

Conclusion

CMR reclassified 27% of subjects. Subjects with normal ECG/TTE results were reclassified in a low number of cases, justifying screening with ECG and TTE in G+ relatives. In subjects with abnormal ECGs and/or poor TTE image quality, CMR is indicated.

SUBMITTER: Huurman R

PROVIDER: S-EPMC9365305 | biostudies-literature | 2022 Aug

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Contemporary family screening in hypertrophic cardiomyopathy: the role of cardiovascular magnetic resonance.

Huurman Roy R van der Velde Nikki N Schinkel Arend F L AFL Hassing H Carlijne HC Budde Ricardo P J RPJ van Slegtenhorst Marjon A MA Verhagen Judith M A JMA Hirsch Alexander A Michels Michelle M

European heart journal. Cardiovascular Imaging 20220801 9

<h4>Aims</h4>Genetic testing in relatives of hypertrophic cardiomyopathy (HCM) patients leads to early identification of pathogenic DNA variant carriers (G+), before the onset of left ventricular hypertrophy. Routine phenotyping consists of electrocardiography (ECG) and transthoracic echocardiography (TTE). Cardiovascular magnetic resonance (CMR) has become valuable in the work-up of HCM. In this study, we investigated the value of CMR in phenotyping of G+ family members.<h4>Methods and results< ...[more]

PMID: 35670722

Similar Datasets

Project description:Background and aimsDespite different etiopathogenesis, Fabry Disease cardiomyopathy (FDc) and sarcomeric hypertrophic cardiomyopathy (HCM) share a similar hypertrophic phenotype, including anomalies of the mitral valve apparatus (AMVA). Some of these anomalies have also been described in the pre-hypertrophic stage of both diseases. This cardiovascular magnetic resonance (CMR) study aimed to: (i) compare AMVA between FDc and HCM with a similar degree of left ventricular hypertrophy (LVH), to add new insights into differential diagnosis; (ii) assess whether AMVA represent an early and progressive alteration in FDc; (iii) propose simple and potentially reproducible measurements of AMVA.MethodsThis observational, retrospective study enrolled: (i) 80 Fabry patients, divided into three groups with increasing severity of cardiac phenotype (20 patients LVH-/normal T1, 20 patients LVH-/low T1 and 40 patients LVH+), and (ii) 40 patients with HCM. All patients underwent CMR. The LVH + FDc and the HCM groups were matched for age, sex, body surface area and left ventricular (LV) mass. The following AMVA were measured on cine images: papillary muscles (PMs) hypertrophy (maximal diameter (Dmax) of anterolateral (Al) and posteromedial (Pm) PM), apical displacement, anteriorization of Al PM and anterior mitral valve leaflet (AMVL) elongation. Reference values for defining AMVA were derived from a matched healthy control group (n = 40).ResultsBoth HCM and FDc LVH + patients showed PMs hypertrophy, with a greater degree in the FDc LVH + group [Dmax Al PM 16 ± 3.4 vs. 15 ± 3.1 mm, p 0.017; Dmax Pm PM 14 ± 4.0 vs.12 mm (10.0-14.0), p 0.039] As compared to controls, both HCM and FDc LVH + patients showed PMs apical displacement (HCM 83% vs. healthy volunteers 8%, p < 0.001; FDc LVH + 65% vs. healthy volunteers 8%, p < 0.001), with a greater prevalence in HCM. Anteriorization of Al PM was only evident in HCM (15 ± 6.2 vs. healthy controls 21 ± 5.3 mm, p < 0.001). Elongation of AMVL was detected both in HCM and FDc with LVH + (HCM 29 ± 4.0 vs. healthy volunteers 24 ± 2.9 mm, p < 0.001; FDc LVH + 27 ± 4.0 vs. healthy volunteers 24 ± 2.9 mm, p < 0.001) without significant differences between the two phenocopies. The prevalence of myocardial crypts was higher among HCM patients than in FDc LVH + patients (75% vs. 48%, p 0.012).Conclusionswe report greater PMs hypertrophy in FDc and a higher prevalence of PMs positional alterations (anterior and apical displacement) and myocardial crypts in HCM. All these AMVA became more pronounced with the progression of the FDc phenotype. We suggest the systematic inclusion of the analysis of AMVA by simple linear measurements on cine images in the CMR assessment of hypertrophic cardiomyopathies, to help in the differential diagnosis between HCM and FDc and to facilitate early detection of cardiac involvement in FDc.

Project description:Left Ventricular (LV) Non-compaction (LVNC), Hypertrophic Cardiomyopathy (HCM), and Dilated Cardiomyopathy (DCM) share morphological and functional traits that increase the diagnosis complexity. Additional clinical information, besides imaging data such as cardiovascular magnetic resonance (CMR), is usually required to reach a definitive diagnosis, including electrocardiography (ECG), family history, and genetics. Alternatively, indices of hypertrabeculation have been introduced, but they require tedious and time-consuming delineations of the trabeculae on the CMR images. In this paper, we propose a radiomics approach to automatically encode differences in the underlying shape, gray-scale and textural information in the myocardium and its trabeculae, which may enhance the capacity to differentiate between these overlapping conditions. A total of 118 subjects, including 35 patients with LVNC, 25 with HCM, 37 with DCM, as well as 21 healthy volunteers (NOR), underwent CMR imaging. A comprehensive radiomics characterization was applied to LV short-axis images to quantify shape, first-order, co-occurrence matrix, run-length matrix, and local binary patterns. Conventional CMR indices (LV volumes, mass, wall thickness, LV ejection fraction-LVEF-), as well as hypertrabeculation indices by Petersen and Jacquier, were also analyzed. State-of-the-art Machine Learning (ML) models (one-vs.-rest Support Vector Machine-SVM-, Logistic Regression-LR-, and Random Forest Classifier-RF-) were used for one-vs.-rest classification tasks. The use of radiomics models for the automated diagnosis of LVNC, HCM, and DCM resulted in excellent one-vs.-rest ROC-AUC values of 0.95 while generating these results without the need for the delineation of the trabeculae. First-order and texture features resulted to be among the most discriminative features in the obtained radiomics signatures, indicating their added value for quantifying relevant tissue patterns in cardiomyopathy differential diagnosis.

Dataset Information

Contemporary family screening in hypertrophic cardiomyopathy: the role of cardiovascular magnetic resonance.

Aims

Methods and results

Conclusion

Publications

Contemporary family screening in hypertrophic cardiomyopathy: the role of cardiovascular magnetic resonance.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets