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International Journal of Environmental... Apr 2022This meta-analysis aimed to compare Marfan syndrome (MFS) patients with non-MFS populations based on orofacial health status to combine publicly available scientific... (Meta-Analysis)
Meta-Analysis Review
This meta-analysis aimed to compare Marfan syndrome (MFS) patients with non-MFS populations based on orofacial health status to combine publicly available scientific information while also improving the validity of primary study findings. A comprehensive search was performed in the following databases: PubMed, Google Scholar, Scopus, Medline, and Web of Science, for articles published between 1 January 2000 and 17 February 2022. PRISMA guidelines were followed to carry out this systematic review. We used the PECO system to classify people with MFS based on whether or not they had distinctive oral health characteristics compared to the non-MFS population. The following are some examples of how PECO is used: P denotes someone who has MFS; E stands for a medical or genetic assessment of MFS; C stands for people who do not have MFS; and O stands for the orofacial characteristics of MFS. Using the Newcastle-Ottawa Quality Assessment Scale, independent reviewers assessed the articles' methodological quality and extracted data. Four case-control studies were analyzed for meta-analysis. Due to the wide range of variability, we were only able to include data from at least three previous studies. There was a statistically significant difference in bleeding on probing and pocket depth between MFS and non-MFS subjects. MFS patients are more prone to periodontal tissue inflammation due to the activity of FBN1 and MMPs. Early orthodontic treatment is beneficial for the correction of a narrow upper jaw and a high palate, as well as a skeletal class II with retrognathism of the lower jaw and crowding of teeth.
Topics: Case-Control Studies; Cleft Palate; Humans; Marfan Syndrome; Oral Health
PubMed: 35564443
DOI: 10.3390/ijerph19095048 -
Diagnostics (Basel, Switzerland) Sep 2020Marfan syndrome (MFS) is a heritable systemic connective tissue disease with important cardiovascular involvement, including aortic root dilatation and mitral valve... (Review)
Review
Marfan syndrome (MFS) is a heritable systemic connective tissue disease with important cardiovascular involvement, including aortic root dilatation and mitral valve prolapse. Life expectancy in patients with MFS is mainly determined by cardiovascular complications, among which aortic dissection or rupture are most dreaded. In recent years, heart failure and ventricular arrhythmia have drawn attention as extra-aortic cardiovascular manifestations and as additional reported causes of death. Imaging studies have provided data supporting a primary myocardial impairment in the absence of valvular disease or cardiovascular surgery, while studies using ambulatory ECG have demonstrated an increased susceptibility to ventricular arrhythmia. In this paper, current literature was reviewed in order to provide insights in characteristics, pathophysiology and evolution of myocardial function, heart failure and ventricular arrhythmia in MFS.
PubMed: 32992882
DOI: 10.3390/diagnostics10100751 -
Medicina Oral, Patologia Oral Y Cirugia... Jul 2019The purpose was to identify and assess the existing scientific evidence from epidemiologic, non-experimental, observational studies of associations between Marfan's... (Meta-Analysis)
Meta-Analysis
BACKGROUND
The purpose was to identify and assess the existing scientific evidence from epidemiologic, non-experimental, observational studies of associations between Marfan's syndrome and oral diseases.
MATERIAL AND METHODS
Electronic literature searches in MEDLINE (OVID), The Cochrane Library, Scopus and the Web of Science were conducted to identify all relevant articles. Eligibility was based on inclusion criteria, and quality assessments were conducted. The outcome variables were probing depth, gingival margin, clinical attachment level, bleeding on probing, gingival status, periodontal status, tooth mobility, furcation involvement and decayed, missing and filled teeth index. After extracting data, meta-analyses were carried out.
RESULTS
Out of 527 potentially eligible papers, 3 cross-sectional studies were included. No statistically significant differences were found in the number of sites with bleeding on probing (OR: 1.26; 95% CI: 0.47 to 3.42; P = 0.65; I2: 0%), probing depth (MD: -0.14 mm; 95% CI: -0.24 to 0.53; P = 0.46; I2: 93%), periodontal status (WMD: 0.68 points; 95% CI: -0.48 to 1.83; P = 0.25; I2: 98%) nor number of decayed, missing and filled teeth index score (MD: 1.08 points.; 95% CI: -1.27 to 3.42; P = 0.37; I2: 0%).
CONCLUSIONS
Patients diagnosed with Marfan's syndrome do not seem to have worsened oral health status. Due to the high number of patients with Marfan's syndrome that have prosthetic heart valves, an adequate dental monitoring as well as a strict maintenance therapy program should be implemented.
Topics: Cross-Sectional Studies; Humans; Marfan Syndrome; Oral Health
PubMed: 31232392
DOI: 10.4317/medoral.23037 -
Journal of Thoracic Disease Aug 2021Aortic aneurysm and dissection are important causes of morbimortality in patients with Marfan syndrome (MFS) and other connective tissue diseases that affect the...
Systematic review and meta-analysis of aortic valve-sparing surgery versus replacement surgery in ascending aortic aneurysms and dissection in patients with Marfan syndrome and other genetic connective tissue disorders.
BACKGROUND
Aortic aneurysm and dissection are important causes of morbimortality in patients with Marfan syndrome (MFS) and other connective tissue diseases that affect the cardiovascular tissues. Timely intervention through different surgical techniques improves the prognosis. Both sparing and replacement-type interventions of the aortic valve are used, but selection depends on the condition of the patient at the time of diagnosis, the patient's emergency condition, surgeon preference and hospital resources. Previous meta-analyses have suggested an advantage with the use of sparing-type interventions, but this finding must be updated and extended to patients with other connective tissue disorders. The objetive of this study is to evaluate the outcomes of valve-sparing root replacement versus aortic root replacement procedures in patients with MFS and similar connective tissue diseases that present with aortic aneurysm or dissection.
METHODS
A systematic review of cohort studies that evaluated sparing-type (preserving, remodeling, reimplantation, Yacoub, David or Florida Sleeve) or replacement-type (repair, Bentall, Button-Bentall, composite valve graft or Cabrol) procedures in patients with Marfan, Loeys-Dietz, Beals-Hecht or Ehlers-Danlos syndromes was done. Studies were retrieved from the SCOPUS, MEDLINE, CINAHL, EMBASE and LILACS electronic databases up to January 2020 without language restrictions. Only studies that directly compared sparing- versus replacement-type procedures were included in the meta-analysis.
RESULTS
A total of 33 studies (n=1,807 subjects) reported sparing-type surgical interventions and 26 studies (n=2,218 subjects) reported replacement-type surgical interventions. Pooled rates of endocarditis, thromboembolism and aneurysm were higher in replacement-type surgical intervention studies. Sixteen studies were included in the meta-analysis. Sparing-type interventions were associated with a reduced risk of endocarditis (RR =0.13, 95% CI: 0.03-0.61); however, replacement-type interventions favored freedom from valve reoperation (RR =2.39, 95% CI: 1.24-4.60). All studies were at low risk of bias.
CONCLUSIONS
The choice of the best surgical technique is dependent on the type of disease (MFS or other connective tissue diseases) as well as the accompanying aortic and cardiovascular damage, since these key factors are heterogeneous. Although the results of this meta-analysis tend to show some advantages for one type of surgical intervention over the other and viceversa, the surgeon can only make the best decision during the surgical act.
PubMed: 34527322
DOI: 10.21037/jtd-21-789 -
Medicina Oral, Patologia Oral Y Cirugia... Sep 2016Rare diseases (RD) are those that present a lower prevalence than 5 cases per 10.000 population. The main objective of this review was to study the effect on oral health... (Review)
Review
BACKGROUND
Rare diseases (RD) are those that present a lower prevalence than 5 cases per 10.000 population. The main objective of this review was to study the effect on oral health in rare diseases, while the secondary objective of the study is theme upgrade.
MATERIAL AND METHODS
Comparative observational case-control studies were analysed and a systematic review was conducted in PubMed. Each rare disease listed on the statistical data record of the Health Portal of the Ministry of Equality, Health and Social Policies Board of Andalusia was associated with "oral health". The variables studied included dental, oral mucosa and occlusion alterations, oral pathologies (caries, periodontal disease) and other alterations (mouth breathing, parafunctional habits, etc). A bias analysis of the variable caries was conducted.
RESULTS
Six RD were selected through our inclusion and exclusion criteria (hypogammaglobulinemia, Rett syndrome, Marfan syndrome, Prader-Willi syndrome, cystic fibrosis and Cri du chat syndrome) in a total of 8 publications, of which four trials were classified as high risk of bias and one of them as medium risk. There were not trials with low risk of bias.
CONCLUSIONS
The main statistically significant differences found by Syndrome compared to a control group were in Hypogammaglobulinemia with a greater tendency to enamel hypoplasia and dry mouth. The Rett syndrome had, as well, a greater tendency to an anterior open bite, ogival palate, bruxism, mouth breathing and tongue thrusting. Prader-Willi syndrome had a tendency of dental erosion, and Cri du chat syndrome showed a higher association to Tannerella forsythia.
Topics: Bruxism; Cri-du-Chat Syndrome; Dental Caries; Humans; Oral Health; Rare Diseases
PubMed: 27475682
DOI: 10.4317/medoral.20972 -
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 -
Annals of Cardiothoracic Surgery Nov 2017A major, life-limiting feature of Marfan syndrome (MFS) is the presence of aneurysmal disease. Cardiovascular intervention has dramatically improved the life expectancy... (Review)
Review
BACKGROUND
A major, life-limiting feature of Marfan syndrome (MFS) is the presence of aneurysmal disease. Cardiovascular intervention has dramatically improved the life expectancy of Marfan patients. Traditionally, the management of aortic root disease has been undertaken with composite-valve graft replacing the aortic valve and proximal aorta; more recently, valve sparing procedures have been developed to avoid the need for anticoagulation. This meta-analysis assesses the important surgical outcomes of the two surgical techniques.
METHODS
A systematic review and meta-analysis of 23 studies reporting the outcomes of aortic root surgery in Marfan patients with data extracted for outcomes of early and late mortality, thromboembolic events, late bleeding complications and surgical reintervention rates.
RESULTS
The outcomes of 2,976 Marfan patients undergoing aortic root surgery were analysed, 1,624 patients were treated with composite valve graft (CVG) and 1,352 patients were treated with valve sparing root replacement (VSRR). When compared against CVG, VSRR was associated with reduced risk of thromboembolism (OR =0.32; 95% CI, 0.16-0.62, P=0.0008), late hemorrhagic complications (OR =0.18; 95% CI, 0.07-0.45; P=0.0003) and endocarditis (OR =0.27; 95% CI, 0.10-0.68; P=0.006). Importantly there was no significant difference in reintervention rates between VSRR and CVG (OR =0.89; 95% CI, 0.35-2.24; P=0.80).
CONCLUSIONS
There is an increasing body of evidence that VSRR can be reliably performed in Marfan patients, resulting in a durable repair with no increased risk of re-operation compared to CVG, thus avoiding the need for systemic anticoagulation in selected patients.
PubMed: 29270369
DOI: 10.21037/acs.2017.11.06 -
Orphanet Journal of Rare Diseases Aug 2019Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Chromosome 22q11.2 microdeletion syndrome, a disorder caused by heterozygous loss of genetic material in chromosome region 22q11.2, has a broad range of clinical symptoms. The most common congenital anomalies involve the palate in 80% of patients, and the heart in 50-60% of them. The cause of the phenotypic variability is unknown. Patients usually harbor one of three common deletions sizes: 3, 2 and 1.5 Mb, between low copy repeats (LCR) designated A-D, A-C and A-B, respectively. This study aimed to analyze the association between these 3 deletion sizes and the presence of congenital cardiac and/or palatal malformations in individuals with this condition. A systematic review and meta-analysis were conducted, merging relevant published studies with data from Chilean patients to increase statistical power.
RESULTS
Eight articles out of 432 were included; the data from these studies was merged with our own, achieving a total of 1514 and 487 patients to evaluate cardiac and palate malformations, respectively. None of the compared deleted chromosomal segments were statistically associated with cardiac defects (OR: 0.654 [0.408-1.046]; OR : 1.291 [0.860-1.939]) or palate anomalies (OR: 1.731 [0.708-4.234]; OR : 0.628 [0.286-1.382]).
CONCLUSIONS
The lack of association between deletion size and CHD or PA found in this meta-analysis suggests that deletion size does not explain the incomplete penetrance of these 2 major manifestations, and that the critical region for the development of heart and palatal abnormalities is within LCR A-B, the smallest region of overlap among the three deletion sizes.
Topics: Arachnodactyly; Chromosome Deletion; Craniosynostoses; Humans; Marfan Syndrome; Phenotype
PubMed: 31399107
DOI: 10.1186/s13023-019-1170-x -
The Annals of Thoracic Surgery Feb 2013Marfan syndrome is the most frequently inherited disorder of connective tissue and is strongly associated with aortic dilatation, dissection, and rupture; in these... (Review)
Review
Marfan syndrome is the most frequently inherited disorder of connective tissue and is strongly associated with aortic dilatation, dissection, and rupture; in these patients, type B dissection occurs substantially. It is not known whether stent grafting, which is now frequently used in type B aortic dissection and descending thoracic aneurysms in non-Marfan patients, is a valuable option in Marfan patients, and reports from the literature are sparse and sporadic. We performed a systematic review of studies reporting the early and late results of endovascular stent grafting in Marfan patients with type B dissection in the attempt to quantify possible benefits or potential drawbacks of this approach in these usually very sick patients. Although associated with a low operative risk (1.9%), endovascular stent grafting in patients with Marfan syndrome carries a substantial risk of early and late complications, mainly endoleaks and surgical conversions, and of death at midterm follow-up. Because these complications are relatively more frequent in patients undergoing endovascular stent grafting for chronic dissections, these data suggest caution against the routine use of endovascular stent grafting in Marfan patients.
Topics: Aortic Aneurysm, Thoracic; Endovascular Procedures; Humans; Marfan Syndrome
PubMed: 23273625
DOI: 10.1016/j.athoracsur.2012.09.059 -
Journal of the Formosan Medical... Jan 2020Variable effects of beta-blockers (BB) and/or angiotensin receptor blockers (ARB) were reported to retard aortic root growth in Marfan syndrome (MFS). This study aimed... (Meta-Analysis)
Meta-Analysis
BACKGROUND AND PURPOSE
Variable effects of beta-blockers (BB) and/or angiotensin receptor blockers (ARB) were reported to retard aortic root growth in Marfan syndrome (MFS). This study aimed to compare the effects of BB therapy and ARB-related therapies on cardiovascular protection in MFS.
METHODS
Studies of randomized control trials comparing the efficacy of only-BB and ARB-related (only-ARB or ARB-plus-BB) therapies for MFS published before July 31, 2018 in PubMed, Embase, and the Cochrane Library were selected. The outcomes included changes in aortic growth and cardiovascular events.
RESULTS
Eight trials involving 1381 patients were included. Patients received only-BB and ARB-related therapies did not differ significantly in changes in aortic growth (aortic root diameter: standardized mean difference [SMD] = 0.04, 95% confidence interval [CI]: -0.11-0.19, p = 0.63) or cardiovascular events (aortic dissection: Peto odds ratio [OR] = 1.67, 95% CI: 0.42-6.72, p = 0.47; aortic surgery: risk ratio = 0.97, 95% CI: 0.66-1.41, p = 0.86; death: Peto OR = 2.78, 95% CI: 0.39-19.82, p = 0.31). Subgroup analysis revealed that ARB-plus-BB therapy exhibited nonsignificantly better outcomes than only-BB therapy (aortic root diameter: SMD = 0.11, 95% CI: -0.22-0.45, p = 0.52; ascending aorta diameter: SMD = 0.10, 95% CI: -0.07-0.27, p = 0.26; aortic surgery: Peto OR = 1.10, 95% CI: 0.75-1.61, p = 0.62).
CONCLUSION
For cardiovascular protection in MFS, only-ARB therapy is not inferior to only-BB therapy. Moreover, the outcomes of ARB-plus-BB therapy seemed to be favourable to those of only-BB therapy.
Topics: Adrenergic beta-Antagonists; Angiotensin Receptor Antagonists; Aortic Diseases; Cardiotonic Agents; Dilatation, Pathologic; Drug Therapy, Combination; Humans; Losartan; Marfan Syndrome; Randomized Controlled Trials as Topic; Treatment Outcome
PubMed: 31003918
DOI: 10.1016/j.jfma.2019.03.018