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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 -
PloS One 2024Echogenic Intracardiac Foci (EIF) are non-structural markers identified during the routine 18-20-week foetal anomaly ultrasound scan yet their clinical significance on...
BACKGROUND
Echogenic Intracardiac Foci (EIF) are non-structural markers identified during the routine 18-20-week foetal anomaly ultrasound scan yet their clinical significance on future outcomes for the infant is unclear.
OBJECTIVE
To examine the association between EIF and risk of preterm birth, chromosomal abnormalities, and cardiac abnormalities.
DESIGN
A review across four databases to identify English language journal articles of EIF using a cohort study design. All studies were reviewed for quality using the Critical Appraisal Skills Programme (CASP) checklist and data extracted for comparison and analysis.
RESULTS
19 papers from 9 different countries were included. Combining these studies showed 4.6% (95% CI = 4.55-4.65%) of all pregnancies had EIF which was on the left in 86% of cases, on the right in 3% of cases and bilaterally in 10%. There was no evidence that EIF was associated with higher rates of preterm birth. However, it is possible that infants with EIF were more likely to be terminated rather than be born preterm as there was a 2.1% (range 0.3-4.2%) rate of termination or death of the foetus after week 20 among those with EIF. There was no evidence that EIF alone is highly predictive of chromosomal abnormalities. There was evidence that EIF is associated with higher rates of minor cardiac abnormalities (e.g. ventricular septal defect, tricuspid regurgitation or mitral regurgitation)) with 5.1% (224 of 4385) of those with EIF showing cardiac abnormalities (3.08% in retrospective studies and 17.85% in prospective studies). However, the risk of cardiac defects was only higher with right-sided EIF and where the EIF persisted into the third trimester. However, this is a rare event and would be seen in an estimated 4 per 10,000 pregnancies.
CONCLUSION
EIF alone was not associated with adverse outcomes for the infant. Only persistent EIF on the right side showed evidence of carrying a higher risk of cardiac abnormality and would warrant further follow-up.
Topics: Female; Humans; Pregnancy; Chromosome Aberrations; Heart Defects, Congenital; Pregnancy Outcome; Pregnancy Trimester, Second; Premature Birth; Ultrasonography, Prenatal
PubMed: 38648215
DOI: 10.1371/journal.pone.0298365 -
Journal of Cardiovascular Medicine... May 2024Literature data suggest high inter-study variability in mitral valve prolapse (MVP) prevalence among individuals with thoracic skeletal abnormalities (TSA). This...
BACKGROUND
Literature data suggest high inter-study variability in mitral valve prolapse (MVP) prevalence among individuals with thoracic skeletal abnormalities (TSA). This systematic review aimed at estimating the overall prevalence of MVP in individuals with the most common TSA, including not only the oldest studies (before the year 2000) but also the most recent ones (after the year 2000).
METHODS
PubMed and EMBASE databases were systematically reviewed in November 2023. Studies assessing the relationship between MVP and TSA and estimating the MVP prevalence in pectus excavatum (PE), pectus carinatum (PC), scoliosis, straight back syndrome (SBS) and Marfan syndrome (MS) were included. There was no limitation on time periods.
RESULTS
Twenty-five studies with a total of 2800 patients (27.9 ± 13.9 years, 48.2% females) were analyzed. The highest prevalence of MVP was observed among MS patients (47.3%), while the lowest was detected in PC individuals (23%). Prevalence of MVP was similar among PE (30.8%), scoliosis (26.3%) and SBS (25.5%) patients. When dividing the studies on the basis of temporal period, the average MVP prevalence was approximately two-fold higher in all studies conducted before the year 2000 in comparison with the most recent ones, regardless of TSA type. This discrepancy might be primarily ascribed to relevant differences in the echocardiographic criteria employed for MVP diagnosis before (less specific) and after (more specific) the year 2000, respectively.
CONCLUSIONS
The estimated MVP prevalence in TSA individuals is significantly higher than that observed in the general population. Individuals with TSA should be screened for MVP presence on transthoracic echocardiography.
Topics: Female; Humans; Male; Mitral Valve Prolapse; Scoliosis; Echocardiography; Marfan Syndrome; Prevalence
PubMed: 38526955
DOI: 10.2459/JCM.0000000000001614 -
Cureus Feb 2024Marfan syndrome (MFS) is a progressive connective tissue disease with a broad range of clinical manifestations. We sought to establish the spectrum of structural... (Review)
Review
Marfan syndrome (MFS) is a progressive connective tissue disease with a broad range of clinical manifestations. We sought to establish the spectrum of structural valvular abnormalities as cardiovascular involvement has been identified as the most life-threatening aspect of the syndrome. This was a systematic review with a meta-analysis of studies indexed in Medline from the inception of the database to November 7, 2022. Using the random-effects model, separate Forest and Galbraith plots were generated for each valvular abnormality assessed. Heterogeneity was assessed using the statistics whilst funnel plots and Egger's test were used to assess for publication bias. From a total of 35 studies, a random-effects meta-analysis approximated the pooled summary estimates for the prevalence of cardiac valve abnormalities as mitral valve prolapse 65% (95% CI: 57%-73%); mitral valve regurgitation 40% (95% CI: 29%-51%); aortic valve regurgitation 40% (95% CI: 28%-53%); tricuspid valve prolapse 35% (95% CI: 15%-55%); and tricuspid valve regurgitation 43% (95% CI: 8%-78%). Only one study reported on the involvement of the pulmonary valve (pulmonary valve prolapse was estimated at 5.3% (95% CI: 1.9%-11.1%) in a cohort of 114 patients with MFS). We believe this study provides a description of the structural valvular disease spectrum and may help inform providers and patients in understanding the clinical history of MFS in the current treatment era with its increased life expectancy.
PubMed: 38487153
DOI: 10.7759/cureus.54141 -
Frontiers in Endocrinology 2023Although subclinical hypothyroidism (SCH) is related to abnormalities in left ventricular diastolic function, the use of levothyroxine as a regular treatment remains... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Although subclinical hypothyroidism (SCH) is related to abnormalities in left ventricular diastolic function, the use of levothyroxine as a regular treatment remains debatable. This meta-analysis aimed to determine whether thyroid hormone replacement therapy affects cardiac diastolic function in patients with SCH as measured by echocardiography.
METHODS
This meta-analysis included a search of the EMBASE, PubMed, Web of Science, and Cochrane Library databases from their inception to May 18, 2023, for studies analyzing cardiac morphology and functional changes in patients with SCH before and after thyroid hormone replacement. The outcome measures were cardiac morphology and diastolic and overall cardiac function, as assessed using ultrasound parameters (including ventricular wall thickness, chamber size, mitral wave flow, tissue Doppler, and speckle tracking). The quality of the studies was assessed using the Newcastle-Ottawa Scale. The standard mean differences (MDs) and 95% confidence intervals (CI) were calculated using fixed- or random-effects models.
RESULTS
Seventeen studies met the inclusion criteria. A total of 568 patients participated and completed the follow-up. All studies specifically stated that serum thyrotropin levels returned to normal by the end of the study period. Compared with baseline levels, no significant morphological changes were observed in the heart. In terms of diastolic function, we discovered that the ratios of E-velocity to A-velocity (E/A) had greatly improved after thyroid hormone replacement therapy, whereas the ratios of the mitral inflow E wave to the tissue Doppler e' wave (E/e') had not. Global longitudinal strain (GLS) increased significantly after treatment with levothyroxine.
CONCLUSION
In adult patients with SCH, thyroid hormone supplementation can partially but not completely improve parameters of diastolic function during the observation period. This meta-analysis was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses 2020 statement, an updated guideline for reporting systematic reviews (11) and was registered with INPLASY (INPLASY202320083).
SYSTEMATIC REVIEW REGISTRATION
https://inplasy.com/inplasy-2023-2-0083.
Topics: Adult; Humans; Echocardiography; Hormone Replacement Therapy; Hypothyroidism; Thyroxine; Ventricular Function, Left; Diastole
PubMed: 37818087
DOI: 10.3389/fendo.2023.1263861 -
Cardiology in the Young Sep 2023Double-orifice mitral valve or left atrioventricular valve is a rare congenital cardiac anomaly that may be associated with an atrioventricular septal defect. The... (Meta-Analysis)
Meta-Analysis Review
INTRODUCTION
Double-orifice mitral valve or left atrioventricular valve is a rare congenital cardiac anomaly that may be associated with an atrioventricular septal defect. The surgical management of double-orifice mitral valve/double-orifice left atrioventricular valve with atrioventricular septal defect is highly challenging with acceptable clinical outcomes. This meta-analysis is aimed to evaluate the surgical outcomes of double-orifice mitral valve/double-orifice left atrioventricular valve repair in patients with atrioventricular septal defect.
METHODS AND RESULTS
A total of eight studies were retrieved from the literature by searching through PubMed, Google Scholar, Embase, and Cochrane databases. Using Bayesian hierarchical models, we estimated the pooled proportion of incidence of double-orifice mitral valve/double-orifice left atrioventricular valve with atrioventricular septal defect as 4.88% in patients who underwent surgical repair (7 studies; 3295 patients; 95% credible interval [CI] 4.2-5.7%). As compared to pre-operative regurgitation, the pooled proportions of post-operative regurgitation were significantly low in patients with moderate status: 5.1 versus 26.39% and severe status: 5.7 versus 29.38% [8 studies; 171 patients]. Moreover, the heterogeneity test revealed consistency in the data (p < 0.05). Lastly, the pooled estimated proportions of early and late mortality following surgical interventions were low, that is, 5 and 7.4%, respectively.
CONCLUSION
The surgical management of moderate to severe regurgitation showed corrective benefits post-operatively and was associated with low incidence of early mortality and re-operation.
Topics: Humans; Infant; Mitral Valve; Bayes Theorem; Heart Septal Defects; Heart Defects, Congenital; Mitral Valve Insufficiency; Reoperation; Treatment Outcome
PubMed: 37518865
DOI: 10.1017/S1047951123002664 -
European Spine Journal : Official... Sep 2023This study aimed to analyze the overall incidence of cardiac abnormalities in patients with congenital scoliosis and the possible influencing factors. (Meta-Analysis)
Meta-Analysis Review
PURPOSE
This study aimed to analyze the overall incidence of cardiac abnormalities in patients with congenital scoliosis and the possible influencing factors.
METHODS
PubMed, Embase, and Cochrane Library were searched for relevant studies. The quality of the studies was assessed independently by two authors using the methodological index for nonrandomized studies (MINORS) criteria. The following data were extracted from the included studies: bibliometric data, number of patients, number of patients with cardiac anomalies, gender, types of deformity, diagnostic method, type of cardiac anomaly, location, and other associated anomalies. The Review Manager 5.4 software was used to group and analyze all the extracted data.
RESULTS
This meta-analysis included nine studies and identified that 487 of 2,910 patients with congenital vertebral deformity had cardiac anomalies diagnosed by ultrasound (21.05%, 95% CI of 16.85-25.25%). The mitral valve prolapse was the most frequent cardiac anomaly (48.45%) followed by an unspecified valvular anomaly (39.81) and an atrial septal defect (29.98). A diagnosis of cardiac anomalies was highest in Europe (28.93%), followed by USA (27.21%) and China (15.33%). Females and formation defects were factors significantly associated with increased incidence of cardiac anomalies: 57.37%, 95% CI of 50.48-64.27% and 40.76%, 95% CI of 28.63-52.89%, respectively. Finally, 27.11% presented associated intramedullary anomalies.
CONCLUSIONS
This meta-analysis revealed that the overall incidence of cardiac abnormalities detected in patients with congenital vertebral deformity was 22.56%. The incidence rate of cardiac anomalies was higher in females and those with formation defects. The study offers guidance for ultrasound practitioners to accurately identify and diagnose the most common cardiac anomalies.
Topics: Female; Humans; Incidence; Spine; Heart Defects, Congenital; Scoliosis; Europe
PubMed: 37294359
DOI: 10.1007/s00586-023-07817-y -
Catheterization and Cardiovascular... Jul 2023Left circumflex coronary artery (LCx) injury related to mitral valve surgery is a rare complication. The best treatment option is not defined, and percutaneous coronary... (Review)
Review
Left circumflex coronary artery (LCx) injury related to mitral valve surgery is a rare complication. The best treatment option is not defined, and percutaneous coronary intervention (PCI) may represent an effective treatment to avoid prolonged myocardial ischemia. To evaluate feasibility and efficacy of PCI treatment, all records of LCx injury related to mitral valve surgery and treated with PCI were included after a systematic PubMed searching. Moreover, we retrospectively analyzed our single-center PCI database and patients fulfilling the inclusion criteria were included. Patients undergoing transcatheter mitral valve intervention, non-mitral valve surgery, conservatively or surgically treated after LCx injury were excluded. Data about patient characteristics, procedural details, PCI success, and in-hospital mortality were collected. Fifty-six patients were included, 58.9% were male (n = 33) and the median age was 60.5 years (IQR = 21.75). The majority had left dominant or codominant coronary system (62.2%, n = 28 and 15.6%, n = 7, respectively). Clinical manifestations ranged from hemodynamic stability (21.1%, n = 8) to hemodynamic instability (42.1%, n = 16) and cardiac arrest (18.4%, n = 7). On ECG, 23.5% of patients (n = 12) presented ST-segment depression, 58.8% (n = 30) ST-segment elevation, 7.8% (n = 4) atrioventricular block, and 29.4% (n = 15) ventricular arrhythmias. Left ventricle dysfunction was present in 52.3% (n = 22) of patients and wall motion abnormalities in 71.4% (n = 30). PCI success rate was 82.1% (n = 46) and in-hospital mortality 4.5% (n = 2). LCx injury related to mitral surgery is a rare complication characterized by an increased risk of mortality. PCI seems a feasible treatment option, still burdened by suboptimal results, probably related to the technical challenges posed by the surgical failure.
Topics: Humans; Male; Middle Aged; Female; Coronary Vessels; Percutaneous Coronary Intervention; Treatment Outcome; Retrospective Studies; Mitral Valve
PubMed: 37210617
DOI: 10.1002/ccd.30693 -
Cancer Cell International May 2023Although doxorubicin chemotherapy is commonly applied for treating different malignant tumors, cardiotoxicity induced by this chemotherapeutic agent restricts its... (Review)
Review
PURPOSE
Although doxorubicin chemotherapy is commonly applied for treating different malignant tumors, cardiotoxicity induced by this chemotherapeutic agent restricts its clinical use. The use of silymarin/silibinin may mitigate the doxorubicin-induced cardiac adverse effects. For this aim, the potential cardioprotective effects of silymarin/silibinin against the doxorubicin-induced cardiotoxicity were systematically reviewed.
METHODS
In this study, we performed a systematic search in accordance with PRISMA guideline for identifying all relevant studies on "the role of silymarin/silibinin against doxorubicin-induced cardiotoxicity" in different electronic databases up to June 2022. Sixty-one articles were obtained and screened based on the predefined inclusion and exclusion criteria. Thirteen eligible papers were finally included in this review.
RESULTS
According to the echocardiographic and electrocardiographic findings, the doxorubicin-treated groups presented a significant reduction in ejection fraction, tissue Doppler peak mitral annulus systolic velocity, and fractional shortening as well as bradycardia, prolongation of QT and QRS interval. However, these echocardiographic abnormalities were obviously improved in the silymarin plus doxorubicin groups. As well, the doxorubicin administration led to induce histopathological and biochemical changes in the cardiac cells/tissue; in contrast, the silymarin/silibinin co-administration could mitigate these induced alterations (for most of the cases).
CONCLUSION
According to the findings, it was found that the co-administration of silymarin/silibinin alleviates the doxorubicin-induced cardiac adverse effects. Silymarin/silibinin exerts its cardioprotective effects via antioxidant, anti-inflammatory, anti-apoptotic activities, and other mechanisms.
PubMed: 37165384
DOI: 10.1186/s12935-023-02936-4 -
Procedural complications associated with percutaneous mitral balloon valvotomy: A systematic review.Expert Review of Cardiovascular Therapy Dec 2022As Percutaneous mitral balloon valvotomy (PMBV) remains the keystone in treating mitral stenosis, we conducted this review to elucidate the cumulative frequency and...
BACKGROUND
As Percutaneous mitral balloon valvotomy (PMBV) remains the keystone in treating mitral stenosis, we conducted this review to elucidate the cumulative frequency and predictors of complications following PMBV and their occurrence in various patient populations.
AREAS COVERED
We searched digital databases for relevant studies covering complications of PMBV and retrieved articles using the Medical Subject Heading (MeSH) keywords.
EXPERT OPINION
A total of 37 articles (8 RCTs, 7 nonrandomized clinical trials, 22 observational studies) were selected for qualitative analysis. A total of 11,803 patients undergoing PMBV among 37 studies were included, with a mean success rate of 84.54%. The most common complication was mitral regurgitation (8.2%) followed by an atrial septal defect (2.4%). Other relevant complications like stroke, pericardial tamponade, rupture of mitral leaflets, and conduction abnormalities were present in <1% of the patients.
Topics: Humans; Balloon Valvuloplasty; Mitral Valve Stenosis; Mitral Valve Insufficiency; Cardiac Surgical Procedures
PubMed: 36421070
DOI: 10.1080/14779072.2022.2152328