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Case report: adult-onset manifesting heterozygous glycogen storage disease type IV with dilated cardiomyopathy and absent late gadolinium enhancement on cardiac magnetic resonance imaging.

ABSTRACT: Background:Glycogen storage disease type IV (GSD IV; Andersen's disease) is a rare autosomal recessive disease caused by mutation in the GBE1 gene. Presentation of GSD IV varies on a continuum of severity and symptomatology ranging from neonatal death to mild adult-onset disease with variable involvement of hepatic, muscular, neurologic, dermatologic, and cardiac systems. Cardiomyopathy seen in GSD IV is also heterogeneous and its appearance on cardiac magnetic resonance imaging (CMR) is rarely described. Case summary:A 29-year-old man without previous medical history was admitted to our facility multiple times over 2 years for focal sensorimotor deficits, gout arthropathy, chronic hyperlactataemia and hyperuricaemia, and severe decompensated non-ischaemic cardiomyopathy complicated by episodes of thromboembolic organ infarction. Echocardiography and CMR showed severe biventricular failure with the presence of intraventricular thrombi with increased right ventricular trabeculation and absent late gadolinium enhancement. He underwent muscle biopsy which showed prominent glycogen in skeletal muscle followed by genetic testing showing a single heterozygous splicing mutation c.993-1G>T found at the junction of intron 7 and exon 8 of the GBE1 gene which had not previously been reported and was predicted to be pathologic. He was referred to a tertiary care centre with glycogen storage disease specialists but expired prior to establishing care at that facility. Discussion:Discovery of GSD IV in our patient was unexpected due to a highly variant clinical presentation. Our case stresses the clinical heterogeneity of GSD IV and the importance of genetic sequencing studies in the evaluation of potential glycogen storage disease.

SUBMITTER: Lyo S

PROVIDER: S-EPMC7319828 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature

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Case report: adult-onset manifesting heterozygous glycogen storage disease type IV with dilated cardiomyopathy and absent late gadolinium enhancement on cardiac magnetic resonance imaging.

Lyo Shawn S Miles Jeremy J Meisner Jay J Guelfguat Mark M

European heart journal. Case reports 20200503 3

<h4>Background</h4>Glycogen storage disease type IV (GSD IV; Andersen's disease) is a rare autosomal recessive disease caused by mutation in the GBE1 gene. Presentation of GSD IV varies on a continuum of severity and symptomatology ranging from neonatal death to mild adult-onset disease with variable involvement of hepatic, muscular, neurologic, dermatologic, and cardiac systems. Cardiomyopathy seen in GSD IV is also heterogeneous and its appearance on cardiac magnetic resonance imaging (CMR) is ...[more]

PMID: 32617483

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Project description:BackgroundLate gadolinium enhancement (LGE) cardiac magnetic resonance (CMR) imaging has emerged as an important tool for assessment of patients with dilated cardiomyopathy (DCM). Electrocardiography (ECG) is an accessible, reproducible, low-cost diagnostic and prognostic tool. This study aimed to investigate the ECG characteristics associated with LGE, as well as to assess the prognostic significance of ECG in patients with DCM.MethodsConsecutive patients diagnosed with DCM by CMR [left ventricular ejection fraction (LVEF) < 50%] between 2011 and 2020 were included. Multivariable analysis was conducted to evaluate ECG predictors associated with LGE. Receiver operating characteristic (ROC) analysis was performed to assess the diagnostic performance of ECG in combination of clinical data and LVEF for LGE. Two composite outcomes were also assessed among patients with and without ECG predictors: (1) sudden cardiac death (SCD), sustained ventricular arrhythmia, or appropriate implantable cardioverter-defibrillator (ICD) therapy, and (2) all-cause death or hospitalization for heart failure.ResultsA total of 422 patients, with a mean age of 59.5 ± 16.3 years (58.3% male), were included. LGE was present in 169 (40%) of the patients. Multivariable analysis identified lateral inverted T-waves, intraventricular conduction delay, low voltage, and fragmented QRS as independent predictors of LGE. ROC analysis showed a significant increase in the area under the curve (AUC) when ECG predictors of the four aforementioned characteristics were added to the clinical-LVEF model (AUC 0.66, 95% CI 0.59-0.71 vs. 0.72, 95% CI 0.67-0.78, p = 0.003). During a median follow-up of 2.7 years (IQR 0.8, 5.2), 16 events of SCD, sustained ventricular arrhythmia, or appropriate ICD therapy, and 70 events of all-cause death or hospitalization for heart failure occurred. ECG predictors were independently associated with SCD, sustained ventricular arrhythmia, or appropriate ICD therapy (HR 4.84, 95% CI 1.34-17.40, p = 0.01). However, ECG predictors were not associated with all-cause death or hospitalization for heart failure (HR 1.22, 95% CI 0.76-1.96, p = 0.39).ConclusionIn patients with DCM, lateral inverted T-waves, intraventricular conduction delay, low voltage, and fragmented QRS were independently associated with LGE. Additionally, these ECG predictors had prognostic value for predicting SCD, sustained ventricular arrhythmia, or appropriate ICD therapy, assisting clinicians in stratifying SCD risk and identifying primary prevention ICD implantation candidates.

Project description:AimsThis study aimed to evaluate the clinical parameters including late gadolinium enhancement (LGE) of cardiovascular magnetic resonance to predict re-worsening of left ventricular ejection fraction (LVEF) in patients with dilated cardiomyopathy (DCM).Methods and resultsWe included 138 patients with recent-onset DCM who had an LVEF <45% and underwent LGE of cardiovascular magnetic resonance imaging at diagnosis and echocardiography at the yearly follow-up [median 6 (4-8.3) years]. Initial LVEF recovery was defined as LVEF increase >10% from baseline, resulting in LVEF ≧45% after treatment. The patients were divided into three groups: (i) improved (n = 83, 60%), defined as those with sustained LVEF ≧45%; (ii) re-worsening (n = 39, 28%), those with >5% decrease and LVEF <45% after the initial LVEF recovery; and (iii) not-improved (n = 16, 12%), those without initial LVEF recovery. The primary endpoint was a composite of hospitalization for heart failure or sudden cardiac death. In baseline, LGE was observed in 70 patients. The LGE area was significantly larger in the re-worsening and not-improved groups than that in the improved group (P < 0.001). Loess curves of long-term LVEF trajectories showed that LVEF in the re-worsening group increased in the first 2 years and slowly declined thereafter. Multivariate logistic regression analysis demonstrated that LGE area [odds ratio (OR) 1.09, 95% confidence interval (CI) 1.03-1.16, P = 0.004], B-type natriuretic peptide (OR 1.49, 95% CI 1.05-2.21, P = 0.030) level at the initial recovery, and LVEF (OR 0.91, 95% CI 0.86-0.97, P = 0.004) at the initial LVEF recovery were independent predictors of re-worsening of LVEF. During a median follow-up of 2273 (interquartile range: 1634-3191) days, the primary endpoint was observed in 31 (22%) patients. Univariate Cox proportional hazards analysis demonstrated that the risk of experiencing the primary event in the re-worsening group was significantly higher (hazard ratio: 4.30, 95% CI 1.63-11.31, P = 0.003) than that in the improved group and was lower than that in the not-improved group (hazard ratio: 0.33, 95% CI 0.15-0.72, P = 0.006).ConclusionsRe-worsening of LVEF was observed in 28% of patients with recent-onset DCM who showed an initial improvement in LVEF. High LGE burden, higher B-type natriuretic peptide level, and lower LVEF at the initial LVEF recovery were independent predictors of re-worsening of LVEF in patients with DCM. Careful observation is recommended for patients with a high risk for re-worsening of LVEF, even in those with an initial LVEF recovery.

Project description:ObjectivesThis study sought to investigate whether shape-based late gadolinium enhancement (LGE) metrics and simulations of re-entrant electrical activity are associated with arrhythmic events in patients with nonischemic dilated cardiomyopathy (NIDCM).BackgroundThe presence of LGE predicts life-threatening ventricular arrhythmias in NIDCM; however, risk stratification remains imprecise. LGE shape and simulations of electrical activity may be able to provide additional prognostic information.MethodsCardiac magnetic resonance (CMR)-LGE shape metrics were computed for a cohort of 156 patients with NIDCM and visible LGE and tested retrospectively for an association with an arrhythmic composite endpoint of sudden cardiac death and ventricular tachycardia. Computational models were created from images and used in conjunction with simulated stimulation protocols to assess the potential for re-entry induction in each patient's scar morphology. A mechanistic analysis of the simulations was carried out to explain the associations.ResultsDuring a median follow-up of 1,611 (interquartile range: 881 to 2,341) days, 16 patients (10.3%) met the primary endpoint. In an inverse probability weighted Cox regression, the LGE-myocardial interface area (hazard ratio [HR]: 1.75; 95% confidence interval [CI]: 1.24 to 2.47; p = 0.001), number of simulated re-entries (HR: 1.40; 95% CI: 1.23 to 1.59; p < 0.01) and LGE volume (HR: 1.44; 95% CI: 1.07 to 1.94; p = 0.02) were associated with arrhythmic events. Computational modeling revealed repolarization heterogeneity and rate-dependent block of electrical wavefronts at the LGE-myocardial interface as putative arrhythmogenic mechanisms directly related to the LGE interface area.ConclusionsThe area of interface between scar and surviving myocardium, as well as simulated re-entrant activity, are associated with an elevated risk of major arrhythmic events in patients with NIDCM and LGE and represent novel risk predictors.

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Case report: adult-onset manifesting heterozygous glycogen storage disease type IV with dilated cardiomyopathy and absent late gadolinium enhancement on cardiac magnetic resonance imaging.

Publications

Case report: adult-onset manifesting heterozygous glycogen storage disease type IV with dilated cardiomyopathy and absent late gadolinium enhancement on cardiac magnetic resonance imaging.

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