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The Journal of Cardiovascular Surgery Feb 2023The role of thoracic endovascular aortic repair (TEVAR) in patients with Marfan Syndrome with Stanford type B aortic dissection (TBAD) remains under debate. (Meta-Analysis)
Meta-Analysis
INTRODUCTION
The role of thoracic endovascular aortic repair (TEVAR) in patients with Marfan Syndrome with Stanford type B aortic dissection (TBAD) remains under debate.
EVIDENCE ACQUISITION
MEDLINE and EMBASE were searched through December 2021 to identify studies that investigated outcomes in MFS patients with TBAD who underwent TEVAR. Data regarding patient characteristics, perioperative and late outcomes were extracted.
EVIDENCE SYNTHESIS
Twelve studies were identified including 120 patients. The mean age was 40.2 years (95% confidence interval [CI], 36.8-43.6). 40.4% (95% CI: 10.8-70.0) of cases were performed emergently. 76.2% (95% CI: 64.6-87.8) of patients had a history of previous aortic surgery. In-hospital mortality was 3.7% (95% CI: 0.6-6.8). Primary endoleak occurred in 15.2% (95% CI: 8.6-21.8), which was comprised of type 1 (9.3% [95% CI: 3.9-14.6]) and type 2 (7.1% [95% CI: 2.3-12.0]) endoleaks. During mean follow-up period of 37.4 months (95% CI: 24.1-50.7), secondary endoleak was reported in 14.1% (95% CI: 7.1-21.1), which was comprised of type 1 (7.4% [95% CI: 2.4-12.5]) and type 2 (4.0% [95% CI: 0.3-7.7]) endoleak. Repeat TEVAR was performed in 15.5% (95% CI: 9.3-21.8) and open aortic surgery in 18.6% (95% CI: 9.6-27.5). Long-term mortality was 11.9% (95% CI: 6.5-17.3).
CONCLUSIONS
Our analysis showed that TEVAR for TBAD in patients with MFS has low perioperative morbidity and mortality but was associated with a high rate of late reintervention. This treatment option should be limited to emergent cases and to patients deemed unsuitable for open repair. Lifelong follow-up with imaging is mandatory in this population.
Topics: Humans; Adult; Marfan Syndrome; Endoleak; Aortic Aneurysm, Thoracic; Blood Vessel Prosthesis Implantation; Treatment Outcome; Risk Factors; Endovascular Procedures; Aortic Dissection; Retrospective Studies
PubMed: 36239929
DOI: 10.23736/S0021-9509.22.12441-9 -
Annals of Vascular Surgery Nov 2022Marfan syndrome (MS) most often shows as thoracic aortic aneurysm (TAA) or aortic dissection, but it may also involve other vascular territories. This study aimed to... (Review)
Review
BACKGROUND
Marfan syndrome (MS) most often shows as thoracic aortic aneurysm (TAA) or aortic dissection, but it may also involve other vascular territories. This study aimed to identify those extrathoracic vascular manifestations most frequently associated with MS.
METHODS
A systematic review of the literature with Preferred Reporting Items for Systematic Reviews and Meta-Analyses criteria was carried out. The following databases were included: MEDLINE, Embase, Web of Science, Cumulative Index of Nursing and Health Sciences Literature (CINHAL); Spanish database MEDESY Cochrane Central Register of Controlled Trials (CENTRAL).
RESULTS
A total of 10,008 articles were identified, leaving 155 for the first stage of data analysis (total incidence of aneurysms) and 83 for the second (descriptive data analysis). Overall, 518 aneurysms were identified: 149 in the head and neck, 94 in the extremities, and 275 in the aortic, iliac, and visceral sectors. Mostly, they were simultaneously discovered during studies of the TAA. In the abdominal aorta, the presentation with rupture in 11 of 32 patients stands out. Resection and bypass were the most frequently used methods for repair in the treated cases.
CONCLUSIONS
Although its frequency in the general population is unknown, this systematic review suggests that extrathoracic aneurysmal arterial involvement in the MS may be more frequent than expected. We believe screening for aneurysms in other vascular sectors may be advisable, especially in patients with MS and TAA.
Topics: Humans; Marfan Syndrome; Treatment Outcome; Aortic Aneurysm, Thoracic; Aortic Dissection; Aorta, Abdominal; Aortic Aneurysm, Abdominal
PubMed: 36029951
DOI: 10.1016/j.avsg.2022.08.005 -
Frontiers in Cardiovascular Medicine 2022Mitral valve prolapse (MVP) due to myxomatous degeneration is one of the most important chronic degenerative cardiovascular diseases in people and dogs. It is a common...
Mitral valve prolapse (MVP) due to myxomatous degeneration is one of the most important chronic degenerative cardiovascular diseases in people and dogs. It is a common cause of heart failure leading to significant morbidity and mortality in both species. Human MVP is usually classified into primary or non-syndromic, including Barlow's Disease (BD), fibro-elastic deficiency (FED) and Filamin-A mutation, and secondary or syndromic forms (typically familial), such as Marfan syndrome (MFS), Ehlers-Danlos syndrome, and Loeys-Dietz syndrome. Despite different etiologies the diseased valves share pathological features consistent with myxomatous degeneration. To reflect this common pathology the condition is often called myxomatous mitral valve degeneration (disease) (MMVD) and this term is universally used to describe the analogous condition in the dog. MMVD in both species is characterized by leaflet thickening and deformity, disorganized extracellular matrix, increased transformation of the quiescent valve interstitial cell (qVICs) to an activated state (aVICs), also known as activated myofibroblasts. Significant alterations in these cellular activities contribute to the initiation and progression of MMVD due to the increased expression of transforming growth factor-β (TGF-β) superfamily cytokines and the dysregulation of the TGF-β signaling pathways. Further understanding the molecular mechanisms of MMVD is needed to identify pharmacological manipulation strategies of the signaling pathway that might regulate VIC differentiation and so control the disease onset and development. This review briefly summarizes current understanding of the histopathology, cellular activities, molecular mechanisms and pathogenesis of MMVD in dogs and humans, and in more detail reviews the evidence for the role of TGF-β.
PubMed: 35656405
DOI: 10.3389/fcvm.2022.872288 -
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 -
Annals of Vascular Surgery May 2022Several RCTs have been conducted to assess the efficacy and safety of angiotensin receptor blocker (ARB) and beta-blocker (BB) therapy for Marfan syndrome (MFS), but the... (Meta-Analysis)
Meta-Analysis Review
OBJECTIVE
Several RCTs have been conducted to assess the efficacy and safety of angiotensin receptor blocker (ARB) and beta-blocker (BB) therapy for Marfan syndrome (MFS), but the existing evidence is limited and conflicting. This study aimed to compare the efficacy and safety of different therapies.
METHODS
The PubMed, Embase, Web of Science, and Cochrane Library databases were electronically searched up to March 2021 to retrieve randomized controlled trials regarding the efficacy and safety of ARB-related (including ARB-only and ARB+BB treatment) and BB-only treatment for treating patients with MFS. The revised risk-of-bias tool was used for quality assessment. The odds ratio (OR) and standard mean difference (SMD) with 95% confidence interval (CI) were used to estimate the pooled effect size.
RESULTS
Fourteen reports of 9 trials involving 1,449 patients were included in the meta-analysis. Regarding aortic root dilation, the ARB-related regimen has efficacy comparable with that of the BB-only regimen in patients with MFS (pooled SMD = -0.16, 95% CI [-0.33; 0.01]; P = 0.06), while in the ARB+BB vs. BB-only subgroup, a significant difference was observed (pooled SMD = -0.26; 95% CI [-0.40; -0.11]; P < 0.01). In addition, there were no significant differences in other aortic dilation-related measures (aortic root Z scores, ascending aorta, pulmonary artery, aortic annulus, sinotubular junction, aortic arch, thoracic aorta, and abdominal aorta diameter change) or cardiovascular events (aortic dissection, aortic surgery, and death) between the 2 regimens.
CONCLUSION
Our results showed that the clinical efficacy of ARB-only therapy is not inferior to that of BB-only therapy. Moreover, ARB+BB therapy showed superior therapeutic effects without significant adverse effects.
Topics: Angiotensin Receptor Antagonists; Angiotensin-Converting Enzyme Inhibitors; Aortic Diseases; Humans; Marfan Syndrome; Treatment Outcome
PubMed: 34998935
DOI: 10.1016/j.avsg.2021.12.073 -
The American Journal of Emergency... Mar 2022Aortic dissection is a rare but potentially catastrophic condition. Misdiagnosis of aortic dissection is not uncommon as symptoms can overlap with other diagnoses.
BACKGROUND
Aortic dissection is a rare but potentially catastrophic condition. Misdiagnosis of aortic dissection is not uncommon as symptoms can overlap with other diagnoses.
OBJECTIVE
We conducted a systematic review to better understand the factors contributing to incorrect diagnosis of this condition.
METHODS
We searched MEDLINE and EMBASE for studies that evaluated the misdiagnosis of aortic dissection. The rate of misdiagnosis was pooled and results were narratively synthesized.
RESULTS
A total of 12 studies with were included with 1663 patients. The overall rate of misdiagnosis of aortic dissection was 33.8%. The proportion of patients presenting with chest pain, back pain and syncope were 67.5%, 24.8% and 6.8% respectively. The proportion of patients with pre-existing hypertension was 55.4%, 30.5% were smokers while the proportion of patients with coronary artery disease, previous cardiovascular surgery or surgical trauma and Marfan syndrome was 14.7%, 5.8%, and 3.7%, respectively. Factors related to misdiagnosis included the presence of symptoms and features associated with other diseases (such as acute coronary syndrome, stroke and pulmonary embolism), the absence of typical features (such as widened mediastinum on chest X-ray) or concurrent conditions such congestive heart failure. Factors associated with more accurate diagnosis included more comprehensive history taking and increased use of imaging.
CONCLUSIONS
Misdiagnosis in patients with an eventual diagnosis of aortic dissection affects 1 in 3 patients. Clinicians should consider aortic dissection as differential diagnosis in patients with chest pain, back pain and syncope. Imaging should be used early to make the diagnosis when aortic dissection is suspected.
Topics: Aortic Dissection; Back Pain; Chest Pain; Diagnostic Errors; Humans; Syncope
PubMed: 34968970
DOI: 10.1016/j.ajem.2021.11.047 -
Journal of Cardiac Surgery Dec 2021Intrinsic cardiac impairment in Marfan syndrome (MFS) has been explored in many clinical studies; however, their results have been inconsistent. This meta-analysis aimed... (Meta-Analysis)
Meta-Analysis Review
BACKGROUND
Intrinsic cardiac impairment in Marfan syndrome (MFS) has been explored in many clinical studies; however, their results have been inconsistent. This meta-analysis aimed to assess the difference in cardiac structure and function between Marfan patients and healthy individuals, and to verify the hypothesis of intrinsic cardiac impairment in MFS.
METHODS
Electronic searches for studies were performed in the PubMed, Embase, and Cochrane Library databases. Nine studies with 490 patients with MFS and 478 controls were included in the analysis. Age and sex were strictly matched between Marfan patients and healthy controls in every study.
RESULTS
There was no difference in the left ventricular end systolic diameter index (mean difference [MD]: 0.33; 95% confidence interval [CI]: (-0.24, 0.89); p = 0.26) and left ventricular end diastolic diameter index (MD: 0.18; 95% CI: [-0.47, 0.83]; p = 0.58) between Marfan patients and controls. Marfan patients showed larger left ventricular end systolic volume index (MD: 2.62; 95% CI: [0.27, 4.97]; p = 0.03) and left ventricular end diastolic volume index (MD: 4.16; 95% CI: [2.70, 5.63]; p < 0.01) than the control group. Furthermore, Marfan patients showed a lower left ventricular ejection fraction than healthy people (MD: -2.59%; 95% CI: [-4.64%, -0.54%]; p = 0.01).
CONCLUSIONS
Intrinsic cardiac impairment was observed in MFS. MFS patients showed the larger left ventricular volume and poorer left ventricular function than matched controls. Considering the potentially adverse impact on cardiac function, intrinsic cardiac impairment in MFS should be considered during the cardiac surgery.
Topics: Diastole; Humans; Marfan Syndrome; Stroke Volume; Ventricular Dysfunction, Left; Ventricular Function, Left
PubMed: 34562283
DOI: 10.1111/jocs.16019 -
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 -
Case Reports in Genetics 2020Shprintzen-Goldberg craniosynostosis syndrome (SGS) is a rare autosomal dominant condition that was first documented in literature in 1982. The disorder is caused by...
Shprintzen-Goldberg craniosynostosis syndrome (SGS) is a rare autosomal dominant condition that was first documented in literature in 1982. The disorder is caused by pathogenic variants in the proto-oncogene gene, a known suppressor of TGF- activity, located on chromosome 1p36. There is considerable phenotypic overlap with Marfan and Loeys-Dietz syndromes. Common clinical features of SGS include craniosynostosis, marfanoid habitus, hypotonia, dysmorphic facies, cardiovascular anomalies, and other skeletal and connective tissue abnormalities. Ocular manifestations may include hypertelorism, downslanting palpebral fissures, proptosis, myopia, and ectopia lentis. We describe a 25-year-old male with the syndrome. Genetic analysis revealed a novel c.350G>A (p.Arg117His) variant, which was predicted to be pathogenic by the CTGT laboratory. The patient presented with dysmorphic features, marfanoid habitus, severe joint contractures, mitral valve insufficiency, aortic root dilatation, and a history of seizures. His ocular manifestations included hypertelorism, downslanting palpebral fissures, bilateral ptosis, and high myopia. Ophthalmic manifestations are an integral component of the syndrome; however, they have not been well characterized in the literature. From a systematic review of previously published cases to date, we summarize the eye and ocular adnexa manifestations reported.
PubMed: 33628537
DOI: 10.1155/2020/7353452 -
Asia-Pacific Journal of Ophthalmology... Jan 2021We performed a systematic review on 3 major types of scleral-fixated intraocular lens (SFIOL) implantations and conducted subgroup analyses on pediatric population and...
PURPOSE
We performed a systematic review on 3 major types of scleral-fixated intraocular lens (SFIOL) implantations and conducted subgroup analyses on pediatric population and subjects with Marfan syndrome.
DESIGN
Systematic review.
METHODS
We performed a search in PubMed, Ovid MEDLINE, and Embase for English language articles with keywords "(sutured intraocular lens) OR (SFIOL) OR (sutureless intraocular lens) OR (glued intraocular lens) OR (intrascleral intraocular lens) OR (SFIOL)" through October 16, 2019. Articles reporting individual outcomes after SFIOL were included in this systematic review. Recorded outcome measures included intraoperative and postoperative complications, endothelial cell changes, and intraocular lens-related outcomes.
RESULTS
Our search yielded 217 papers. After removing duplicated and irrelevant reports, we included 57 articles involving 2624 eyes. The mean age at operation was 51.47 ± 25.62 years. Sutured SFIOL was most commonly reported in all subjects with Marfan syndrome and 92.87% of pediatric patients. The pooled intraoperative complication rate was 6.65%. Minor anterior chamber hemorrhage was the most common intraoperative (1.92%) and postoperative complication (13.93%). Optic capture was the top intraocular lens (IOL)-related complication (4.47%). The overall mean endothelial cell loss was 8.95% at 16.77 ± 11.04 months. Overall 11.99% of SFIOLs were decentred with a mean distance of 0.49 ± 0.40 mm and a mean degree of tilt by 4.11 ± 3.03°.
CONCLUSIONS
Glued SFIOL had the fewest IOL-related complications and the lowest endothelial cell loss. Sutured SFIOL carried the highest IOL-related complications, whereas sutureless, glueless SFIOL was associated with the greatest endothelial cell loss.
Topics: Humans; Lens Implantation, Intraocular; Lenses, Intraocular; Postoperative Complications; Retrospective Studies; Sclera; Suture Techniques; Visual Acuity
PubMed: 33481393
DOI: 10.1097/APO.0000000000000369