Dataset Information

Myocardial fibrosis by late gadolinium enhancement cardiovascular magnetic resonance in myotonic muscular dystrophy type 1: highly prevalent but not associated with surface conduction abnormality.

ABSTRACT:

Background

Conduction disease and arrhythmias represent a major cause of mortality in myotonic muscular dystrophy type 1 (MMD1). Permanent pacemaker (PPM) implantation is the cornerstone of therapy to reduce cardiovascular mortality in MMD1. Cardiovascular magnetic resonance (CMR) studies demonstrate a high prevalence of myocardial fibrosis in MMD1, however the association between CMR myocardial fibrosis with late gadolinium enhancement (CMR-LGE) and surface conduction abnormality is not well established in MMD1. We investigated whether myocardial fibrosis by CMR-LGE is associated with surface conduction abnormalities meeting criteria for PPM implantation according to current guidelines in a cohort of patients with genetically confirmed MMD1.

Methods

Patients with genetically confirmed MMD1 were retrospectively evaluated. 12-lead electrocardiography (ECG) performed within 6?months of CMR was necessary for inclusion. The severity and extent of MMD1 was quantified using a validated Muscular Impairment Rating Scale (MIRS). Based on current guidelines for device-based therapy of cardiac rhythm abnormalities, we defined surface conduction abnormality as the presence of ECG alterations meeting criteria for PPM implant (class I or II indications): PR interval?>?200?ms (type I atrioventricular (AV) block) and/or mono or bifascicular block (QRS?>?120?ms), or evidence of advanced AV block. Balanced steady-state free precession sequences (bSSFP) were used for assessment of left ventricular (LV) volumes and ejection fraction. MOdified Look-Locker Inversion Recovery (MOLLI) acquisition schemes were used to acquire T1 maps. Patients' charts were reviewed up to 12?months post-CMR for occurrence of PPM implantation.

Results

Fifty-two patients (38% male, 41?±?14?years) were included. Overall, 31 (60%) patients had a surface conduction abnormality and 22 (42%) demonstrated midwall myocardial fibrosis by CMR-LGE. After a median of 57?days from CMR exam, 15 patients (29%) underwent PPM implantation. Subjects with vs. without surface conduction abnormality had significantly longer disease length (15.5 vs. 7.8?years, p?=?0.015) and higher disease severity on the MIRS scale (p?=?0.041). High prevalence of myocardial fibrosis by CMR-LGE was detected in subjects with and without surface conduction abnormality with no significant difference between the two cohorts (42% vs. 43%, p?=?0.999). By multivariate logistic regression analysis, disease length was the only independent variable associated with surface conduction abnormality (OR 1.071, 95%CI 1.003-1.144, p?=?0.040); while CMR-LGE was not associated with conduction abnormality (??=?-?0.009, p?=?0.949).

Conclusions

Myocardial fibrosis by CMR-LGE is highly prevalent in MMD1 but not related to surface conduction abnormality meeting current guideline criteria for PPM implantation .

SUBMITTER: Cardona A

PROVIDER: S-EPMC6498496 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature

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Myocardial fibrosis by late gadolinium enhancement cardiovascular magnetic resonance in myotonic muscular dystrophy type 1: highly prevalent but not associated with surface conduction abnormality.

Cardona Andrea A Arnold William D WD Kissel John T JT Raman Subha V SV Zareba Karolina M KM

Journal of cardiovascular magnetic resonance : official journal of the Society for Cardiovascular Magnetic Resonance 20190502 1

<h4>Background</h4>Conduction disease and arrhythmias represent a major cause of mortality in myotonic muscular dystrophy type 1 (MMD1). Permanent pacemaker (PPM) implantation is the cornerstone of therapy to reduce cardiovascular mortality in MMD1. Cardiovascular magnetic resonance (CMR) studies demonstrate a high prevalence of myocardial fibrosis in MMD1, however the association between CMR myocardial fibrosis with late gadolinium enhancement (CMR-LGE) and surface conduction abnormality is not ...[more]

PMID: 31046780

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Project description:BACKGROUND:Duchenne muscular dystrophy (DMD) is an X-linked recessive disease that occurs in males leading to immobility and death in early adulthood. Female carriers of DMD are generally asymptomatic, yet frequently develop dilated cardiomyopathy. This study aims to detect early cardiac manifestation in DMD using cardiovascular magnetic resonance (CMR) and to evaluate its association with clinical symptoms. METHODS:Clinical assessment of DMD carriers included six minutes walk tests (6MWT), blood analysis, electrocardiography, echocardiography, and CMR using FLASH sequences to detect late gadolinium enhancement (LGE). T1-mapping using the Modified Look-Locker Inversion recovery (MOLLI) sequence was performed quantify extracellular volume (ECV). RESULTS:Of 20 carriers (age 39.47?±?12.96 years) 17 (89.5 %) were clinically asymptomatic. ECV was mildly elevated (29.79?±?2.92 %) and LGE was detected in nine cases (45 %). LGE positive carriers had lower left ventricular ejection fraction in CMR (64.36?±?5.78 vs. 56.67?±?6.89 %, p?=?0.014), higher bothCK (629.89?±?317.48 vs. 256.18?±?109.10 U/l, p?=?0.002) and CK-MB (22.13?±?5.25 vs. 12.11?±?2.21 U/l, p?=?0.001), as well as shorter walking distances during the 6MWT (432.44?±?96.72 vs. 514.91?±?66.80 m, p?=?0.037). 90.9 % of subjects without LGE had normal pro-BNP, whereas in 66.7 % of those presenting LGE pro-BNP was elevated (p?=?0.027). All individuals without LGE were in the NYHA class I, whereas all those in NYHA classes II and III showed positive for LGE (p?=?0.066). CONCLUSIONS:Myocardial involvement shown as LGE in CMR occurs in a substantial number of DMD carriers; it is associated with clinical and morphometric signs of incipient heart failure. LGE is thus a sensitive parameter for the early diagnosis of cardiomyopathy in DMD carriers. TRIAL REGISTRATION:Clinicaltrials.gov, NCT01712152 Trial registration: October 19, 2012. First patient enrolled: September 27, 2012 (retrospectively registered).

Project description:PurposeTo develop a free-breathing whole-heart isotropic-resolution 3D late gadolinium enhancement (LGE) sequence with Dixon-encoding, which provides co-registered 3D grey-blood phase-sensitive inversion-recovery (PSIR) and complementary 3D fat volumes in a single scan of < 7 min.MethodsA free-breathing 3D PSIR LGE sequence with dual-echo Dixon readout with a variable density Cartesian trajectory with acceleration factor of 3 is proposed. Image navigators are acquired to correct both inversion recovery (IR)-prepared and reference volumes for 2D translational respiratory motion, enabling motion compensated PSIR reconstruction with 100% respiratory scan efficiency. An intermediate PSIR reconstruction is performed between the in-phase echoes to estimate the signal polarity which is subsequently applied to the IR-prepared water volume to generate a water grey-blood PSIR image. The IR-prepared water volume is obtained using a water/fat separation algorithm from the corresponding dual-echo readout. The complementary fat-volume is obtained after water/fat separation of the reference volume. Ten patients (6 with myocardial scar) were scanned with the proposed water/fat grey-blood 3D PSIR LGE sequence at 1.5 T and compared to breath-held grey-blood 2D LGE sequence in terms of contrast ratio (CR), contrast-to-noise ratio (CNR), scar depiction, scar transmurality, scar mass and image quality.ResultsComparable CRs (p = 0.98, 0.40 and 0.83) and CNRs (p = 0.29, 0.40 and 0.26) for blood-myocardium, scar-myocardium and scar-blood respectively were obtained with the proposed free-breathing 3D water/fat LGE and 2D clinical LGE scan. Excellent agreement for scar detection, scar transmurality, scar mass (bias = 0.29%) and image quality scores (from 1: non-diagnostic to 4: excellent) of 3.8 ± 0.42 and 3.6 ± 0.69 (p > 0.99) were obtained with the 2D and 3D PSIR LGE approaches with comparable total acquisition time (p = 0.29). Similar agreement in intra and inter-observer variability were obtained for the 2D and 3D acquisition respectively.ConclusionThe proposed approach enabled the acquisition of free-breathing motion-compensated isotropic-resolution 3D grey-blood PSIR LGE and fat volumes. The proposed approach showed good agreement with conventional 2D LGE in terms of CR, scar depiction and scan time, while enabling free-breathing acquisition, whole-heart coverage, reformatting in arbitrary views and visualization of both water and fat information.

Project description:BackgroundLate gadolinium enhancement (LGE) cardiovascular magnetic resonance (CMR) imaging is the gold standard for noninvasive myocardial tissue characterization but requires intravenous contrast agent administration. It is highly desired to develop a contrast agent-free technology to replace LGE for faster and cheaper CMR scans.MethodsA CMR virtual native enhancement (VNE) imaging technology was developed using artificial intelligence. The deep learning model for generating VNE uses multiple streams of convolutional neural networks to exploit and enhance the existing signals in native T1 maps (pixel-wise maps of tissue T1 relaxation times) and cine imaging of cardiac structure and function, presenting them as LGE-equivalent images. The VNE generator was trained using generative adversarial networks. This technology was first developed on CMR datasets from the multicenter Hypertrophic Cardiomyopathy Registry, using hypertrophic cardiomyopathy as an exemplar. The datasets were randomized into 2 independent groups for deep learning training and testing. The test data of VNE and LGE were scored and contoured by experienced human operators to assess image quality, visuospatial agreement, and myocardial lesion burden quantification. Image quality was compared using a nonparametric Wilcoxon test. Intra- and interobserver agreement was analyzed using intraclass correlation coefficients (ICC). Lesion quantification by VNE and LGE were compared using linear regression and ICC.ResultsA total of 1348 hypertrophic cardiomyopathy patients provided 4093 triplets of matched T1 maps, cines, and LGE datasets. After randomization and data quality control, 2695 datasets were used for VNE method development and 345 were used for independent testing. VNE had significantly better image quality than LGE, as assessed by 4 operators (n=345 datasets; P<0.001 [Wilcoxon test]). VNE revealed lesions characteristic of hypertrophic cardiomyopathy in high visuospatial agreement with LGE. In 121 patients (n=326 datasets), VNE correlated with LGE in detecting and quantifying both hyperintensity myocardial lesions (r=0.77-0.79; ICC=0.77-0.87; P<0.001) and intermediate-intensity lesions (r=0.70-0.76; ICC=0.82-0.85; P<0.001). The native CMR images (cine plus T1 map) required for VNE can be acquired within 15 minutes and producing a VNE image takes less than 1 second.ConclusionsVNE is a new CMR technology that resembles conventional LGE but without the need for contrast administration. VNE achieved high agreement with LGE in the distribution and quantification of lesions, with significantly better image quality.

Project description:CONTEXT:Myotonic muscular dystrophy (MMD) is an autosomal-dominant multisystem neuromuscular disorder characterized by unstable nucleotide repeat expansions. Case reports have suggested that MMD patients may be at increased risk of malignancy, putative risks that have never been quantified. OBJECTIVE:To quantitatively evaluate cancer risk in patients with MMD, overall and by sex and age. DESIGN, SETTING, AND PARTICIPANTS:We identified 1658 patients with an MMD discharge diagnosis in the Swedish Hospital Discharge Register or Danish National Patient Registry between 1977 and 2008. We linked these patients to their corresponding cancer registry. Patients were followed up from date of first MMD-related inpatient or outpatient contact to first cancer diagnosis, death, emigration, or completion of cancer registration. MAIN OUTCOME MEASURES:Risks of all cancers combined and by anatomic site, stratified by sex and age. RESULTS:One hundred four patients with an inpatient or outpatient discharge diagnosis of MMD developed cancer during postdischarge follow-up. This corresponds to an observed cancer rate of 73.4 per 10,000 person-years in MMD vs an expected rate of 36.9 per 10,000 person-years in the general Swedish and Danish populations combined (standardized incidence ratio [SIR], 2.0; 95% CI, 1.6-2.4). Specifically, we observed significant excess risks of cancers of the endometrium (n = 11; observed rate, 16.1/10,000 person-years; SIR, 7.6; 95% CI, 4.0-13.2), brain (n = 7; observed rate, 4.9/10,000 person-years; SIR, 5.3; 95% CI, 2.3-10.4), ovary (n = 7; observed rate, 10.3/10,000 person-years; SIR, 5.2; 95% CI, 2.3-10.2), and colon (n = 10; observed rate, 7.1/10,000 person-years; SIR, 2.9; 95% CI, 1.5-5.1). Cancer risks were similar in women and men after excluding genital organ tumors (SIR, 1.9; 95% CI, 1.4-2.5, vs SIR, 1.8; 95% CI, 1.3-2.5, respectively; P = .81 for heterogeneity; observed rates, 64.5 and 47.7 per 10,000 person-years in women and men, respectively). The same pattern of cancer excess was observed first in the Swedish and then in the Danish cohorts, which were studied sequentially and initially analyzed independently. CONCLUSION:Patients with MMD identified from the Swedish and Danish patient registries were at increased risk of cancer both overall and for selected anatomic sites.

Project description:BackgroundIn peripartum cardiomyopathy, the prevalence of focal myocardial damage detected by late gadolinium enhancement (LGE) cardiovascular magnetic resonance is important to elucidate mechanisms of myocardial injury and cardiac dysfunction. LGE equates irreversible myocardial injury, but LGE prevalence in peripartum cardiomyopathy is uncertain.Methods and resultsAmong 100 women enrolled within the Investigations of Pregnancy Associated Cardiomyopathy cohort, we recruited 40 women at 13 centers to undergo LGE cardiovascular magnetic resonance, enrolled within the first 13 weeks postpartum. Follow-up scans occurred at 6 months postpartum, and death/transplant rates at 12 months. Baseline characteristics did not differ significantly in the parent cohort according to cardiovascular magnetic resonance enrollment except for mechanical circulatory support. LGE was noted only in 2 women (5%) at baseline. While left ventricular dysfunction with enlargement was prevalent at baseline cardiovascular magnetic resonance scans (eg, ejection fraction 38% [Q1-Q3 31-50%], end diastolic volume index=108 mL/m2 [Q1-Q3 83-134 mL/m2]), most women demonstrated significant improvements at 6 months, consistent with a low prevalence of LGE. LGE was not related to baseline clinical variables, ejection fraction, New York Heart Association heart failure class, or mortality. Neither of the 2 women who died exhibited LGE. LGE was inversely associated with persistent left ventricular ejection fraction at 6 months (P=0.006).ConclusionsFactors other than focal myocardial damage detectable by LGE explain the initial transient depressions in baseline left ventricular ejection fraction, yet focal myocardial damage may contribute to persistent myocardial dysfunction and hinder recovery in a small minority. Most women exhibit favorable changes in ventricular function over 6 months.Clinical trial registrationURL: http://www.clinicaltrials.gov. Unique identifier: NCT01085955.

Dataset Information

Myocardial fibrosis by late gadolinium enhancement cardiovascular magnetic resonance in myotonic muscular dystrophy type 1: highly prevalent but not associated with surface conduction abnormality.

Background

Methods

Results

Conclusions

Publications

Myocardial fibrosis by late gadolinium enhancement cardiovascular magnetic resonance in myotonic muscular dystrophy type 1: highly prevalent but not associated with surface conduction abnormality.

Similar Datasets

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