Search

Background: Cardiovascular magnetic resonance (CMR) is the gold-standard to estimate right ventricular (RV) volumes, which are key for clinical management of patients with repaired tetralogy of Fallot (rTOF). Semi-automated threshold-based methods (SAT) have been proposed for CMR post-processing as alternatives to fully manual standard tracing. We investigated the impact of SAT on RV analysis using different thresholds in rTOF patients., Methods: RV volumes and mass were estimated using SAT and standard fully manual tracing methods in rTOF patients. Two threshold levels were set for SAT, i.e., default 50 (SAT-50) and 30 (SAT-30). RV stroke volumes (SV) were compared to main pulmonary artery forward flow (MPA-FF). Post-processing time, intra- and interobserver variabilities were compared across methods., Results: Sixty-two CMRs of rTOF patients were analyzed. Compared to the standard fully manual tracing, no significant differences in RV mass, volumes and ejection fraction were observed using SAT-30, whereas SAT-50 significantly underestimated RV end-diastolic-volume index (EDVi) by 10.4% (mean difference of - 11.8 ± 6.2 ml/m 2 , p 0.03) and overestimated RV mass index by 21.8% (mean difference of 14.2 ± 11.9 g/m 2 , p 0.002). Compared to MPA-FF, RVSV by standard fully manual method and SAT-30 showed minor biases, respectively, 0.03 ml/m 2 and 0.7 ml/m 2 , while SAT-50 underestimated RVSV by 6.86 ml/m 2 (p < 0.001). In six patients, the degree of RV EDVi underestimation by SAT-50 determined a change of category from dilated to non-dilated RV. Intra- and interobserver variabilities were good to excellent for all methods. Post-processing duration was shorter for SAT compared to standard manual segmentation (5.5 ± 1.7 min vs. 19.5 ± 4.4 min, p < 0.001)., Conclusion: CMR SAT-30 post-processing is a precise, accurate and time-saving method for biventricular assessment of volumes, ejection fraction and mass in rTOF., Competing Interests: Declarations:. Conflict of interest: The authors report no relationships with Industries or other Institutions that could be construed as a conflict of interest related to the present work. Ethics approval and consent to participate: The study was performed according to the principles of the declaration of Helsinki and was approved by the Ethics Committee of the IRCCS Policlinico San Donato, San Donato Milanese, Milan. The retrospective study was approved with a waiver for written informed consent. Consent for publication: Not applicable., (© 2024. Italian Society of Medical Radiology.)

Diastolic vortex ring (VR) plays a key role in the blood-pumping function exerted by the left ventricle (LV), with altered VR structures being associated with LV dysfunction. Herein, we sought to characterize the VR diastolic alterations in ischemic cardiomyopathy (ICM) patients with systo-diastolic LV dysfunction, as compared to healthy controls, in order to provide a more comprehensive understanding of LV diastolic function. 4D Flow MRI data were acquired in ICM patients (n = 15) and healthy controls (n = 15). The λ 2 method was used to extract VRs during early and late diastolic filling. Geometrical VR features, e.g., circularity index (CI), orientation (α), and inclination with respect to the LV outflow tract (ß), were extracted. Kinetic energy (KE), rate of viscous energy loss ( EL ˙ ), vorticity (W), and volume (V) were computed for each VR; the ratios with the respective quantities computed for the entire LV were derived. At peak E-wave, the VR was less circular (p = 0.032), formed a smaller α with the LV long-axis (p = 0.003) and a greater ß (p = 0.002) in ICM patients as compared to controls. At peak A-wave, CI was significantly increased (p = 0.034), while α was significantly smaller (p = 0.016) and β was significantly increased (p = 0.036) in ICM as compared to controls. At both peak E-wave and peak A-wave, EL ˙ VR / EL ˙ LV , W VR /W LV , and V VR /V LV significantly decreased in ICM patients vs. healthy controls. KE VR /V VR showed a significant decrease in ICM patients with respect to controls at peak E-wave, while V VR remained comparable between normal and pathologic conditions. In the analyzed ICM patients, the diastolic VRs showed alterations in terms of geometry and energetics. These derangements might be attributed to both structural and functional alterations affecting the infarcted wall region and the remote myocardium., Competing Interests: Declarations Ethics approval and consent to participate All participants provided written informed consent, and the study complies with the Helsinki Declaration. Consent for publication Not applicable. Competing interests Daniel Giese is an employee of Siemens Healthineers; all the other authors have no potential conflict of interest related to the contents of the manuscript., (© 2024. International Federation for Medical and Biological Engineering.)

Background and Aims: Despite 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., Methods: This 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)., Results: Both 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)., Conclusions: we 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., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The handling editor FG declared a past co-authorship with the author AC, ML and FP., (© 2024 Tondi, Disabato, D’Andria, Attanasio, Guida, Pieruzzi, De Angeli, Canepa, Carrafiello, Piepoli, Spagnolo, Lombardi and Camporeale.)

PRKAG2 cardiomyopathy is a rare genetic disorder that manifests early in life with an autosomal dominant inheritance pattern. It harbors left ventricular hypertrophy (LVH), ventricular pre-excitation and progressively worsening conduction system defects. Its estimated prevalence among patients with LVH ranges from 0.23 to about 1%, but it is likely an underdiagnosed condition. We report the association of the PRKAG2 missense variant c.1006G>A p. (Val336Ile) with LVH, conduction abnormalities (short PR interval and incomplete right bundle branch bock) and early-onset arterial hypertension (AH) in a 44-year-old Caucasian patient. While cardiac magnetic resonance (CMR) showed a mild hypertrophic phenotype with maximal wall thickness of 17 mm in absence of tissue alterations, the electric phenotype was relevant including brady-tachy syndrome and recurrent syncope. The same variant has been detected in the patient's sister and daughter, with LVH + early-onset AH and electrocardiographic (ECG) alterations + lipothymic episodes, respectively. Paying close attention to the coexistence of LVH and ECG alterations in the proband has been helpful in directing genetic tests to exclude primary cardiomyopathy. Hence, identifying the genetic basis in the patient allowed for familial screening as well as a proper follow-up and therapeutic management of the affected members. A review of the PRKAG2 cardiomyopathy literature is provided alongside the case report.

Background: Cardiovascular magnetic resonance (CMR) extracellular volume (ECV) allows non-invasive detection of myocardial interstitial fibrosis, which may be related to diastolic dysfunction and left atrial (LA) remodeling in hypertrophic cardiomyopathy (HCM). While the prognostic role of LGE is well-established, interstitial fibrosis and LA dysfunction are emerging novel markers in HCM. This study aimed to explore the interaction between interstitial fibrosis by ECV, LA morpho-functional parameters and adverse clinical outcomes in selected low-risk patients with HCM., Methods: 115 HCM patients and 61 matched controls underwent CMR to identify: i) interstitial fibrosis by ECV in hypertrophied left ventricular LGE-negative remote myocardium (r-ECV); ii) LA indexed maximum (LAVi max) and minimum (LAVi min) volumes, ejection fraction (LA-EF) and strain (reservoir εs, conduit εe and booster εa), by CMR feature-tracking. 2D-echocardiographic assessment of diastolic function was also performed within 6 months from CMR. A composite endpoint including worsening NYHA class, heart failure hospitalization, atrial fibrillation and all-cause death was evaluated at 2.3 years follow-up. HCM patients were divided into two groups, according to r-ECV values of controls., Results: Patients with r-ECV ≥29% (n = 45) showed larger LA volumes (LAVimax 63 vs. 54 ml/m 2 , p < 0.001; LAVimin 43 vs. 28 ml/m 2 , p 〈0001), worse LA function (εs 16 vs. 28%, εe 8 vs. 15%, εa 8 vs. 14%, LA-EF 33 vs. 49%, all p < 0.001) and elevated Nt-proBNP (1115 vs. 382 pg/ml, p = 0.002). LA functional parameters inversely correlated with r-ECV (εs r = -0.54; LA-EF r = -0.46; all p < 0.001) and E/e' (εs r = -0.52, LA-EF r = -0.46; all p < 0.006). r-ECV ≥29% and LAVi min >30 ml/m 2 have been identified as possible independent factors associated with the endpoint., Conclusions: In HCM diffuse interstitial fibrosis detected by increased r-ECV is associated with LA remodeling and emerged as a potential independent predictor of adverse clinical outcomes, on top of the well-known prognostic impact of LGE., Competing Interests: Declaration of competing interest The authors report no relationships with Industries or other Institutions that could be construed as a conflict of interest related to the present work., (Copyright © 2024 Elsevier B.V. All rights reserved.)

Competing Interests: Conflict of interest: None declared.