-
Neurological Sciences : Official... May 2024Myophosphorylase deficiency, also known as McArdle disease or Glycogen Storage Disease type V (GSD-V), is an autosomal recessive metabolic myopathy that results in... (Review)
Review
INTRODUCTION AND METHODS
Myophosphorylase deficiency, also known as McArdle disease or Glycogen Storage Disease type V (GSD-V), is an autosomal recessive metabolic myopathy that results in impaired glycogen breakdown in skeletal muscle. Despite being labelled as a "pure myopathy," cardiac involvement has been reported in some cases, including various cardiac abnormalities such as electrocardiographic changes, coronary artery disease, and cardiomyopathy. Here, we present a unique case of a 72-year-old man with GSD-V and both mitral valvulopathy and coronary artery disease, prompting a systematic review to explore the existing literature on cardiac comorbidities in McArdle disease.
RESULTS
Our systematic literature revision identified 7 case reports and 1 retrospective cohort study. The case reports described 7 GSD-V patients, averaging 54.3 years in age, mostly male (85.7%). Coronary artery disease was noted in 57.1% of cases, hypertrophic cardiomyopathy in 28.5%, severe aortic stenosis in 14.3%, and genetic dilated cardiomyopathy in one. In the retrospective cohort study, five out of 14 subjects (36%) had coronary artery disease.
DISCUSSION AND CONCLUSION
Despite McArdle disease primarily affecting skeletal muscle, cardiac involvement has been observed, especially coronary artery disease, the frequency of which was moreover found to be higher in McArdle patients than in the background population in a previous study from a European registry. Exaggerated cardiovascular responses during exercise and impaired glycolytic metabolism have been speculated as potential contributors. A comprehensive cardiological screening might be recommended for McArdle disease patients to detect and manage cardiac comorbidities. A multidisciplinary approach is crucial to effectively manage both neurological and cardiac aspects of the disease and improve patient outcomes. Further research is required to establish clearer pathophysiological links between McArdle disease and cardiac manifestations in order to clarify the existing findings.
PubMed: 38802689
DOI: 10.1007/s10072-024-07600-x -
Clinical Radiology Apr 2023To conduct a systematic review and meta-analysis with the objective of evaluating the prognostic value of extent of myocardial fibrosis by late gadolinium-enhanced... (Meta-Analysis)
Meta-Analysis
The extent of late gadolinium enhancement predicts mortality, sudden death and major adverse cardiovascular events in patients with nonischaemic cardiomyopathy: a systematic review and meta-analysis.
AIM
To conduct a systematic review and meta-analysis with the objective of evaluating the prognostic value of extent of myocardial fibrosis by late gadolinium-enhanced cardiac magnetic resonance imaging (CMR) in non-ischaemic dilated cardiomyopathy (NICM).
MATERIAL AND METHODS
The databases PubMed, EMBASE, and Google Scholar were searched for studies that investigated the prognostic value of quantification of late gadolinium enhancement (LGE) in patients with NICM. Unadjusted and adjusted hazard ratios (HRs) of uniformly defined predictors were pooled for meta-analysis.
RESULTS
Fourteen studies were retrieved from 884 publications for this systematic review and meta-analysis. In total, 4,336 patients (mean age 51.2 years; mean follow-up 35.1 months) were included in the analysis. Meta-analysis showed the extent of LGE was associated with an increased risk of all-cause mortality (HR: 1.07/1% LGE; 95% confidence interval [CI]: 1.03-1.11; p=0.0003), composite arrhythmic endpoint (HR: 1.09/1% LGE; 95% CI: 1.03-1.15; p=0.002) and major adverse cardiovascular events (MACE; HR: 1.06/1% LGE; 95% CI: 1.02-1.11; p=0.005). After adjusting for baseline characteristics, the higher extent of LGE remained associated with the risk of all-cause mortality (HR: 1.07/1% LGE; 95% CI: 1.00-1.14; p=0.04), also strongly associated with the risk of composite arrhythmic endpoint (HR: 1.07; 95% CI: 1.02-1.012; p=0.004) and MACE (HR: 1.04; 95% CI: 1.01-1.08; p=0.005).
CONCLUSIONS
Extent of LGE in CMR predicts all-cause mortality, arrhythmic events, and MACE. Collectively, these findings emphasise that extent of LGE by CMR may have value for optimising current predictive models for clinical events or mortality in patients with NICM.
Topics: Humans; Middle Aged; Contrast Media; Gadolinium; Cardiomyopathies; Heart; Prognosis; Death, Sudden, Cardiac; Predictive Value of Tests; Magnetic Resonance Imaging, Cine; Risk Factors
PubMed: 36707397
DOI: 10.1016/j.crad.2022.12.015 -
Heart & Lung : the Journal of Critical... 2023Cardiopulmonary exercise testing (CPET) is the gold standard for analyzing cardiorespiratory fitness and integrating physiological responses. However, the presence of... (Review)
Review
BACKGROUND
Cardiopulmonary exercise testing (CPET) is the gold standard for analyzing cardiorespiratory fitness and integrating physiological responses. However, the presence of chronic diseases may compromise cerebral hemodynamic responses during CPET. In addition, the acute response of cerebral oxygenation during incremental CPET may identify abnormal behavior and ensure greater safety for patients with cardiovascular, respiratory, and metabolic diseases.
OBJECTIVE
To summarize the cerebral oxygenation acute response during CPET of patients with cardiovascular, metabolic, or respiratory diseases.
METHODS
From inception to 23rd September 2022, five databases (PubMed, SCOPUS, Web of Science, Embase and CINAHAL) were searched for cross-sectional studies performing incremental CPET and measuring the cerebral oxygenation acute response in cardiovascular, metabolic, or respiratory diseases compared with healthy individuals. The Downs and Black tool assessed the risk of bias of the studies.
RESULTS
We included seven studies with 428 participants (305 men and 123 women), aged 43 to 70 years. Of these, 101 had heart failure NYHA II and III; 77 idiopathic dilated cardiomyopathy; 33 valvular disease; 25 coronary heart disease; 22 pulmonary arterial hypertension; 15 had severe obstructive sleep apnea (OSA) and 166 were apparently healthy. There was no eligible article with metabolic disease. There was a lower magnitude increase in cerebral oxygenation of cardiovascular patients compared with the healthy individuals during the CPET. Furthermore, pulmonary arterial hypertension patients presented increased cerebral oxygen extraction, differently to those with severe OSA.
CONCLUSION
Considering the heterogeneity of the included studies, patients with cardiovascular disease may suffer from reduced cerebral oxygen supply, and individuals with OSA presented lower brain oxygen extraction during the CPET. Future studies should aim for strategies to improve cerebral oxygenation to ensure greater safety at CPET of cardiovascular and OSA patients. An acute response pattern for metabolic and other respiratory diseases was not established.
Topics: Male; Humans; Female; Exercise Test; Pulmonary Arterial Hypertension; Cross-Sectional Studies; Exercise Tolerance; Hypoxia; Sleep Apnea, Obstructive; Oxygen; Oxygen Consumption
PubMed: 36669443
DOI: 10.1016/j.hrtlng.2023.01.004 -
International Journal of Cardiology.... Dec 2019Both native T1 time and extracellular volume (ECV) fraction have been shown to be important measures for the detection of myocardial fibrosis. However, ECV determination...
Native T1 time and extracellular volume fraction in differentiation of normal myocardium from non-ischemic dilated and hypertrophic cardiomyopathy myocardium: A systematic review and meta-analysis.
BACKGROUND
Both native T1 time and extracellular volume (ECV) fraction have been shown to be important measures for the detection of myocardial fibrosis. However, ECV determination requires the administration of an intravenous contrast agent, whereas native T1 mapping can be performed without a contrast agent.
METHODS
Here, we conducted a meta-analysis of myocardial native T1 data obtained for non-ischemic cardiomyopathy (NIC) patients and controls. A literature review included studies that applied T1 mapping using modified Look-Locker inversion recovery to measure myocardial fibrosis, and the results were validated by comparing datasets for dilated cardiomyopathy (DCM) or hypertrophic cardiomyopathy (HCM) patients and healthy controls (HCs).
RESULTS
We identified 16 eligible studies. Pooled mean differences (MDs) and 95% confidence intervals (CIs) were estimated as follows. Native T1 at 1.5-T, DCM vs. HC: MD = 45.26 (95% CI: 30.92-59.59); HCM vs. HC: MD = 47.09 (95% CI: 32.42-61.76). Native T1 at 3.0-T, DCM vs. HC: MD = 82.52 (95% CI: 47.60-117.44); HCM vs. HC: MD = 115.87 (95% CI: 50.71-181.04). ECV at 1.5-T, DCM vs. HC: MD = 4.26 (95% CI: 3.06-5.46); HCM vs. HC: MD = 1.49 (95% CI: -1.45-4.43). ECV at 3.0-T, DCM vs. HC: MD = 8.40 (95% CI: 2.94-13.86); HCM vs. HC: MD = 8.02 (95% CI: 5.45-1-0.59).
CONCLUSION
In conclusion, native T1 values were significantly different between NIC patients and controls. Native T1 mapping may be a useful noninvasive method to detect diffuse myocardial fibrosis in NIC patients.
PubMed: 31517037
DOI: 10.1016/j.ijcha.2019.100422 -
European Journal of Medical Genetics Dec 2023Malonyl-CoA decarboxylase deficiency (MLYCDD) is an ultra-rare inherited metabolic disorder, characterized by multi-organ involvement manifesting during the first few...
BACKGROUND
Malonyl-CoA decarboxylase deficiency (MLYCDD) is an ultra-rare inherited metabolic disorder, characterized by multi-organ involvement manifesting during the first few months of life. Our aim was to describe the clinical, biochemical, and genetic characteristics of patients with later-onset MLYCDD.
METHODS
Clinical and biochemical characteristics of two patients aged 48 and 29 years with a confirmed molecular diagnosis of MLYCDD were examined. A systematic review of published studies describing the characteristics of cardiovascular involvement of patients with MLYCDD was performed.
RESULTS
Two patients diagnosed with MLYCDD during adulthood were identified. The first presented with hypertrophic cardiomyopathy and ventricular pre-excitation and the second with dilated cardiomyopathy (DCM) and mild-to-moderate left ventricular (LV) systolic dysfunction. No other clinical manifestation typical of MLYCDD was observed. Both patients showed slight increase in malonylcarnitine in their plasma acylcarnitine profile, and a reduction in malonyl-CoA decarboxylase activity. During follow-up, no deterioration of LV systolic function was observed. The systematic review identified 33 individuals with a genetic diagnosis of MLYCDD (median age 6 months [IQR 1-12], 22 males [67%]). Cardiovascular involvement was observed in 64% of cases, with DCM the most common phenotype. A modified diet combined with levocarnitine supplementation resulted in the improvement of LV systolic function in most cases. After a median follow-up of 8 months, 3 patients died (two heart failure-related and one arrhythmic death).
CONCLUSIONS
For the first time this study describes a later-onset phenotype of MLYCDD patients, characterized by single-organ involvement, mildly reduced enzyme activity, and a benign clinical course.
Topics: Male; Humans; Adult; Infant; Methylmalonic Acid; Cardiomyopathy, Hypertrophic; Metabolism, Inborn Errors; Cardiomyopathy, Dilated
PubMed: 37979716
DOI: 10.1016/j.ejmg.2023.104885 -
Medicine Feb 2020Shenmai injection (SMI) is a Traditional Chinese Medicine patent prescription consisting of extractions from ophiopogonis radix and ginseng radix rubra. Clinical studies... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Shenmai injection (SMI) is a Traditional Chinese Medicine patent prescription consisting of extractions from ophiopogonis radix and ginseng radix rubra. Clinical studies showed that SMI combined with conventional medicine treatment (CMT) can enhance the therapeutic efficacy for dilated cardiomyopathy (DCM). However, there is still a lack of comprehensive and systematic evidence, which urgently requires us to verify its therapeutic efficacy. Hence, we provide a protocol for systematic review and meta-analysis.
METHODS
The systematic search on the MEDLINE/PubMed, China National Knowledge Infrastructure (CNKI), Wanfang database, VIP database, the Cochrane Library, Embase and Chinese Biomedical Database (CBM) in Chinese and English language with dates ranging from the earliest record to August 8, 2019. Next, the quality of each trial was assessed according to the criteria of the Cochrane Handbook for Systematic Reviews of Interventions. Then, the outcome data were recorded and pooled by RevMan 5.3 software.
RESULTS
The systematic review and meta-analysis aims to review and pool current clinical outcomes of SMI for the adjuvant treatment of DCM.
CONCLUSION
This study will provide a high-quality evidence of SMI for the adjuvant treatment on DCM patients.
PROSPERO REGISTRATION NUMBER
CRD42019146369.
Topics: Cardiomyopathy, Dilated; Drug Combinations; Drug Therapy, Combination; Drugs, Chinese Herbal; Heart Function Tests; Humans; Medicine, Chinese Traditional; Randomized Controlled Trials as Topic; Research Design; Standard of Care; Walk Test
PubMed: 32080094
DOI: 10.1097/MD.0000000000019158 -
The Cochrane Database of Systematic... May 2021People with chronic heart failure (HF) are at risk of thromboembolic events, including stroke, pulmonary embolism, and peripheral arterial embolism; coronary ischaemic... (Meta-Analysis)
Meta-Analysis
BACKGROUND
People with chronic heart failure (HF) are at risk of thromboembolic events, including stroke, pulmonary embolism, and peripheral arterial embolism; coronary ischaemic events also contribute to the progression of HF. The use of long-term oral anticoagulation is established in certain populations, including people with HF and atrial fibrillation (AF), but there is wide variation in the indications and use of oral anticoagulation in the broader HF population.
OBJECTIVES
To determine whether long-term oral anticoagulation reduces total deaths and stroke in people with heart failure in sinus rhythm.
SEARCH METHODS
We updated the searches in CENTRAL, MEDLINE, and Embase in March 2020. We screened reference lists of papers and abstracts from national and international cardiovascular meetings to identify unpublished studies. We contacted relevant authors to obtain further data. We did not apply any language restrictions.
SELECTION CRITERIA
Randomised controlled trials (RCT) comparing oral anticoagulants with placebo or no treatment in adults with HF, with treatment duration of at least one month. We made inclusion decisions in duplicate, and resolved any disagreements between review authors by discussion, or a third party.
DATA COLLECTION AND ANALYSIS
Two review authors independently assessed trials for inclusion, and assessed the risks and benefits of antithrombotic therapy by calculating odds ratio (OR), accompanied by the 95% confidence intervals (CI).
MAIN RESULTS
We identified three RCTs (5498 participants). One RCT compared warfarin, aspirin, and no antithrombotic therapy, the second compared warfarin with placebo in participants with idiopathic dilated cardiomyopathy, and the third compared rivaroxaban with placebo in participants with HF and coronary artery disease. We pooled data from the studies that compared warfarin with a placebo or no treatment. We are uncertain if there is an effect on all-cause death (OR 0.66, 95% CI 0.36 to 1.18; 2 studies, 324 participants; low-certainty evidence); warfarin may increase the risk of major bleeding events (OR 5.98, 95% CI 1.71 to 20.93, NNTH 17). 2 studies, 324 participants; low-certainty evidence). None of the studies reported stroke as an individual outcome. Rivaroxaban makes little to no difference to all-cause death compared with placebo (OR 0.99, 95% CI 0.87 to 1.13; 1 study, 5022 participants; high-certainty evidence). Rivaroxaban probably reduces the risk of stroke compared to placebo (OR 0.67, 95% CI 0.47 to 0.95; NNTB 101; 1 study, 5022 participants; moderate-certainty evidence), and probably increases the risk of major bleeding events (OR 1.65, 95% CI 1.17 to 2.33; NNTH 79; 1 study, 5008 participants; moderate-certainty evidence).
AUTHORS' CONCLUSIONS
Based on the three RCTs, there is no evidence that oral anticoagulant therapy modifies mortality in people with HF in sinus rhythm. The evidence is uncertain if warfarin has any effect on all-cause death compared to placebo or no treatment, but it may increase the risk of major bleeding events. There is no evidence of a difference in the effect of rivaroxaban on all-cause death compared to placebo. It probably reduces the risk of stroke, but probably increases the risk of major bleedings. The available evidence does not support the routine use of anticoagulation in people with HF who remain in sinus rhythm.
Topics: Administration, Oral; Anticoagulants; Aspirin; Cardiomyopathy, Dilated; Chronic Disease; Heart Failure; Heart Rate; Hemorrhage; Humans; Placebo Effect; Placebos; Randomized Controlled Trials as Topic; Rivaroxaban; Stroke; Thromboembolism; Warfarin
PubMed: 34002371
DOI: 10.1002/14651858.CD003336.pub4 -
JAMA Network Open Aug 2020Chagas cardiomyopathy is associated with substantial morbidity and mortality. Precise estimates of the risk of developing cardiomyopathy among patients with the acute or... (Meta-Analysis)
Meta-Analysis
IMPORTANCE
Chagas cardiomyopathy is associated with substantial morbidity and mortality. Precise estimates of the risk of developing cardiomyopathy among patients with the acute or indeterminate chronic forms of Chagas disease are lacking.
OBJECTIVE
To estimate the risk of developing chronic cardiomyopathy in patients with acute and indeterminate chronic forms of Chagas disease.
DATA SOURCES
A systematic search in the Cochrane Library, Embase, Latin American and Caribbean Health Sciences Literature (LILACS), Medline, and Web of Science Core Collection databases was conducted from October 8 to October 24, 2018. Studies published between January 1, 1946, and October 24, 2018, that were written in the English, Spanish, and Portuguese languages were included. Search terms included Chagas disease; development of cardiomyopathy; latency duration; and determinants of the Chagas latency period.
STUDY SELECTION
Longitudinal observational studies of participants diagnosed with the acute phase of Chagas infection or the indeterminate chronic form of Chagas disease who were followed up until the development of cardiomyopathy were included. Studies were excluded if they did not provide sufficient outcome data. Of 10 761 records initially screened, 32 studies met the criteria for analysis.
DATA EXTRACTION AND SYNTHESIS
Critical appraisals of studies were performed using checklists from the Joanna Briggs Institute Reviewer's Manual, and data were collected from published studies. A random-effects meta-analysis was used to obtain pooled estimated annual rates. Data were analyzed from September 11 to December 4, 2019. This study followed the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) reporting guideline for the registration of the protocol, data collection and integrity, assessment of bias, and sensitivity analyses.
MAIN OUTCOMES AND MEASURES
Main outcomes were defined as the composite of the development of any new arrhythmias or changes in electrocardiogram results, dilated cardiomyopathy and segmental wall motion abnormalities in echocardiogram results, and mortality associated with Chagas disease.
RESULTS
A total of 5005 records were screened for eligibility. Of those, 298 full-text articles were reviewed, and 178 of those articles were considered for inclusion in the quantitative synthesis. After exclusions, 32 studies that included longitudinal observational outcomes were selected for the analysis; 23 of those studies comprised patients with the indeterminate chronic form of Chagas disease, and 9 of those studies comprised patients in the acute phase of Chagas infection. The analysis indicated that the pooled estimated annual rate of cardiomyopathy development was 1.9% (95% CI, 1.3%-3.0%; I2 = 98.0%; τ2 [ln scale] = 0.9992) in patients with indeterminate chronic Chagas disease and 4.6% (95% CI, 2.7%-7.9%; I2 = 86.6%; τ2 [ln scale] = 0.4946) in patients with acute Chagas infection.
CONCLUSIONS AND RELEVANCE
Patients with the indeterminate chronic form of Chagas disease had a significant annual risk of developing cardiomyopathy. The annual risk was more than double among patients in the acute phase of Chagas infection.
Topics: Adult; Arrhythmias, Cardiac; Cardiomyopathies; Chagas Disease; Child; Female; Humans; Male
PubMed: 32865573
DOI: 10.1001/jamanetworkopen.2020.15072 -
International Journal of Cardiology.... Apr 2024Cardiac magnetic resonance imaging (CMR) based T1 mapping and extracellular volume fraction (ECV) are powerful tools for identifying myocardial fibrosis. This systematic...
BACKGROUND
Cardiac magnetic resonance imaging (CMR) based T1 mapping and extracellular volume fraction (ECV) are powerful tools for identifying myocardial fibrosis. This systematic review and -analysis aims to characterize the utility of native T1 mapping and ECV in patients with non-ischemic cardiomyopathy (NICM) and to clarify the prognostic significance of elevated values.
METHODS
A literature search was conducted for studies reporting on use of CMR-based native T1 mapping and ECV measurement in NICM patients and their association with major adverse cardiac events (MACE), ventricular arrhythmias (VAs), and left ventricular reverse remodeling (LVRR). Databases searched included: Ovid MEDLINE, EMBASE, Web of Science, and Google Scholar. The search was not restricted to time or publication status.
RESULTS
Native T1 and ECV were significantly higher in NICM patients compared to controls (MD 78.80, 95 % CI 50.00, 107.59; p < 0.01; MD 5.86, 95 % CI 4.55, 7.16; p < 0.01). NICM patients who experienced MACE had higher native T1 and ECV (MD 52.87, 95 % CI 26.59, 79.15; p < 0.01; MD 6.03, 95 % CI 3.79, 8.26; p < 0.01). There was a non-statistically significant trend toward higher native T1 time in NICM patients who experienced VAs. NICM patients who were poor treatment responders had higher baseline native T1 and ECV (MD 40.58, 95 % CI 12.90, 68.25; p < 0.01; MD 3.29, 95 % CI 2.25, 4.33; p < 0.01).
CONCLUSIONS
CMR-based native T1 and ECV quantification may be useful tools for risk stratification of patients with NICM. They may provide additional diagnostic utility in combination with LGE, which poorly characterizes fibrosis in patients with diffuse myocardial involvement.
PubMed: 38371310
DOI: 10.1016/j.ijcha.2024.101339 -
The American Journal of Cardiology Jul 2019Patients with cardiomyopathy are at risk of developing atrial fibrillation (AF) which is a strong risk factor for thromboembolic events, progression to heart failure,... (Meta-Analysis)
Meta-Analysis
Patients with cardiomyopathy are at risk of developing atrial fibrillation (AF) which is a strong risk factor for thromboembolic events, progression to heart failure, and mortality or heart transplantation. This systematic review and meta-analysis sought to estimate the prevalence of AF in a global population with cardiomyopathy. PubMed and EMBASE were searched from inception until June 30, 2017 for published articles on AF and major cardiomyopathies without language restrictions. Eligible papers were independently assessed for methodological qualities. The prevalence of AF in patients with cardiomyopathy was estimated using a random-effect model. The chi-square test on Cochrane's Q statistics was used to evaluate heterogeneity across studies. In total 220 full texts representing a population of 118,668 participants were included in the meta-analysis. The ages of the participants ranged from a median of 31 to 72 years. The proportion of males ranged from 3% to 97%. Considering only cardiomyopathies with more than one contributing study, the prevalence of AF was highest in participants with dilated (24% [95% confidence interval: 21 to 28]), ischemic (20% [8 to 35]), and hypertrophic (19% [17 to 21]) cardiomyopathies, and lowest in patients with peripartum cardiomyopathies (5% [1 to 11]). In conclusion, with the exception of peripartum cardiomyopathy, an average of 1 to 2 in every 10 patients with a cardiomyopathy had AF, with no gender difference. Future guidelines need to take into consideration the management of AF in all the forms of cardiomyopathy.
Topics: Atrial Fibrillation; Cardiomyopathies; Disease Progression; Humans; Incidence; Prevalence; Risk Factors
PubMed: 31109634
DOI: 10.1016/j.amjcard.2019.04.028