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The Value of Cardiac Magnetic Resonance Imaging in Identification of Rare Diseases Mimicking Hypertrophic Cardiomyopathy.

ABSTRACT: The cardiac Magnetic Resonance Imaging (MRI) characteristics of rare diseases with the hypertrophic cardiomyopathy (HCM) phenotype are not well defined. Seventy-three sequential patients and 34 of their relatives, who have the HCM phenotype, were included. All subjects underwent cardiac MRI and genetic testing. Of these 107 patients with phenotypic HCM, seven rare diseases were identified: four cases with LAMP2, one case with PRKAG2, one case with TTR mutation, and one case with senile systemic amyloidosis. Subjects with rare diseases had diffuse LGE, and the percentage of those with LGE was significantly higher than that of other HCM (median: 18.9%, interquartile range (IQR): 14.05 to 28.2% versus 7.8%, IQR: 4.41 to 14.56%; p = 0.003). Additionally, global T1 and ECV were significantly higher in subjects with rare diseases (global T1: 1423.1 ± 93.3 ms versus 1296.2 ± 66.6 ms; global ECV: 44.3 ± 11.5% versus 29.9 ± 4.5%; all p < 0.001). Cardiac MRI suggests the existence of distinct imaging characteristics, including via LGE and T1 mapping, among rare diseases that mimic HCM and HCM itself.

SUBMITTER: Fang T

PROVIDER: S-EPMC8348460 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature

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The Value of Cardiac Magnetic Resonance Imaging in Identification of Rare Diseases Mimicking Hypertrophic Cardiomyopathy.

Fang Tingting T Wang Jie J Kang Yu Y Yang Fuyao F Xu Yuanwei Y Wan Ke K Sun Jiayu J Han Yuchi Y Chen Yucheng Y

Journal of clinical medicine 20210728 15

<h4>Background</h4>The cardiac Magnetic Resonance Imaging (MRI) characteristics of rare diseases with the hypertrophic cardiomyopathy (HCM) phenotype are not well defined.<h4>Methods</h4>Seventy-three sequential patients and 34 of their relatives, who have the HCM phenotype, were included. All subjects underwent cardiac MRI and genetic testing.<h4>Results</h4>Of these 107 patients with phenotypic HCM, seven rare diseases were identified: four cases with LAMP2, one case with PRKAG2, one case with ...[more]

PMID: 34362124

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Project description:ObjectivesHypertrophic cardiomyopathy (HCM) often requires repeated enhanced cardiac magnetic resonance (CMR) imaging to detect fibrosis. We aimed to develop a practical model based on cine imaging to help identify patients with high risk of fibrosis and screen out patients without fibrosis to avoid unnecessary injection of contrast.MethodsA total of 273 patients with HCM were divided into training and test sets at a ratio of 7:3. Logistic regression analysis was used to find predictive image features to construct CMR model. Radiomic features were derived from the maximal wall thickness (MWT) slice and entire left ventricular (LV) myocardium. Extreme gradient boosting was used to build radiomic models. Integrated models were established by fusing image features and radiomic models. The model performance was validated in the test set and assessed by ROC and calibration curve and decision curve analysis (DCA).ResultsWe established five prediction models, including CMR, R1 (based on the MWT slice), R2 (based on the entire LV myocardium), and two integrated models (ICMR+R1 and ICMR+R2). In the test set, ICMR+R2 model had an excellent AUC value (0.898), diagnostic accuracy (89.02%), sensitivity (92.54%), and F1 score (93.23%) in identifying patients with positive late gadolinium enhancement. The calibration plots and DCA indicated that ICMR+R2 model was well-calibrated and presented a better net benefit than other models.ConclusionsA predictive model that fused image and radiomic features from the entire LV myocardium had good diagnostic performance, robustness, and clinical utility.Key points• Hypertrophic cardiomyopathy is prone to fibrosis, requiring patients to undergo repeated enhanced cardiac magnetic resonance imaging to detect fibrosis over their lifetime follow-up. • A predictive model based on the entire left ventricular myocardium outperformed a model based on a slice of the maximal wall thickness. • A predictive model that fused image and radiomic features from the entire left ventricular myocardium had excellent diagnostic performance, robustness, and clinical utility.

Project description:BackgroundTo elucidate the value of texture analysis (TA) in detecting and differentiating myocardial tissue alterations on T2-weighted CMR (cardiovascular magnetic resonance imaging) in patients with cardiac amyloidosis (CA) and hypertrophic cardiomyopathy (HCM).MethodsIn this retrospective study, 100 CA (58.5 ± 10.7 years; 41 (41%) females) and 217 HCM (50.7 ± 14.8 years, 101 (46.5%) females) patients who underwent CMR scans were included. Regions of interest for TA were delineated by two radiologists independently on T2-weighted imaging (T2WI). Stepwise dimension reduction and texture feature selection based on reproducibility, machine learning algorithms, and correlation analyses were performed to select features. Both the CA and HCM groups were randomly divided into a training dataset and a testing dataset (7:3). After the TA model was established in the training set, the diagnostic performance of the model was validated in the testing set and further validated in a subgroup of patients with similar hypertrophy.ResultsThe 7 independent texture features provided, in combination, a diagnostic accuracy of 86.0% (AUC = 0.915; 95% CI 0.879-0.951) in the training dataset and 79.2% (AUC = 0.842; 95% CI 0.759-0.924) in the testing dataset. The differential diagnostic accuracy in the similar hypertrophy subgroup was 82.2% (AUC = 0.864, 95% CI 0.805-0.922). The significance of the difference between the AUCs of the TA model and late gadolinium enhancement (LGE) was verified by Delong's test (p = 0.898). All seven texture features showed significant differences between CA and HCM (all p < 0.001).ConclusionsOur study demonstrated that texture analysis based on T2-weighted images could feasibly differentiate CA from HCM, even in patients with similar hypertrophy. The selected final texture features could achieve a comparable diagnostic capacity to the quantification of LGE. Trial registration Since this study is a retrospective observational study and no intervention had been involved, trial registration is waived.

Project description:ObjectivesMyocardial strain is reported to be a sensitive indicator of myocardial mechanical changes in patients with hypertrophic cardiomyopathy (HCM). The changes in the mechanics of the myocardium of normal wall thickness (< 12 mm) have yet to be well studied. This study aimed to evaluate the function of myocardial segments of normal thickness in patients with HCM.MethodsSixty-three patients with HCM and 30 controls were retrospectively enrolled in this retrospective study. Cine imaging, native and post-contrast T1 maps, T2 maps, and late gadolinium enhancement were performed. In addition, regional myocardial strain was assessed by cardiac magnetic resonance-tissue tracking. Strain parameters were compared between the controls and HCM patients with segments of the myocardium of normal thickness. Subgroup analysis was conducted in obstructive and non-obstructive HCM. Lastly, p < 0.05 was considered statistically significant.ResultsIn normal-thickness myocardial segments of HCM (n = 716), diastolic peak strain rates (PSRs) were significantly lower than in the control group (n = 480) (radial, - 2.43 [- 3.36, - 1.78] vs. - 2.67 [- 3.58, - 1.96], p = 0.002; circumferential, 1.28 [1.01,1.60] vs. 1.39 [1.14, 1.78], p < 0.001; and longitudinal, 1.16 [0.75,1.51] vs. 1.28 [0.90, 1.71], p < 0.001). The normal-thickness segments showed no significant difference in systolic PSRs between HCM and the controls. In the subgroup analysis, significantly decreased diastolic PSRs were noted in both obstructive and non-obstructive HCM, compared with the controls (p < 0.05).ConclusionsDiastolic changes in myocardial mechanics were observed in normal-thickness segments of HCM, occurring before morphological remodeling and systolic dysfunction developed. This finding contributed to a better understanding of the mechanical pathophysiology of HCM with preserved left ventricular ejection fraction. It may potentially aid in predicting disease progression and risk stratification.

Dataset Information

The Value of Cardiac Magnetic Resonance Imaging in Identification of Rare Diseases Mimicking Hypertrophic Cardiomyopathy.

Publications

The Value of Cardiac Magnetic Resonance Imaging in Identification of Rare Diseases Mimicking Hypertrophic Cardiomyopathy.

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