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European Journal of Cardio-thoracic... May 2024The goal of this multicentre retrospective cohort study was to evaluate technical success and early and late outcomes of thoracic endovascular repair (TEVAR) with grafts...
OBJECTIVES
The goal of this multicentre retrospective cohort study was to evaluate technical success and early and late outcomes of thoracic endovascular repair (TEVAR) with grafts deployed upside down through antegrade access, to treat thoracic aortic diseases.
METHODS
Antegrade TEVAR operations performed between January 2010 and December 2021 were collected and analysed. Both elective and urgent procedures were included. Exclusion criteria were endografts deployed in previous or concomitant surgical or endovascular repairs.
RESULTS
Fourteen patients were enrolled; 13 were males (94%) with a mean age of 71 years (interquartile range 62; 78). Five patients underwent urgent procedures (2 ruptured aortas and 3 symptomatic patients). Indications for treatment were 8 (57%) aneurysms/pseudoaneurysms, 3 (21%) dissections and 3 (21%) penetrating aortic ulcers. Technical success was achieved in all procedures. Early mortality occurred in 4 (28%) cases, all urgent procedures. Median follow-up was 13 months (interquartile range 1; 44). Late deaths occurred in 2 (20%) patients, both operated on in elective settings. The first died at 19 months of aortic-related reintervention; the second died at 34 months of a non-aortic-related cause. Two patients (14%) underwent aortic-related reinterventions for late type I endoleak. The survival rate of those having the elective procedures was 100%, 84% and 67% at 12, 24 and 36 months, respectively. Freedom from reintervention was 92%, 56% and 56% at 12, 24 and 36 months, respectively.
CONCLUSIONS
Antegrade TEVAR can seldom be considered an alternative when traditional retrograde approach is not feasible. Despite good technical success and few access-site complications, this study demonstrates high rates of late type I endoleak and aortic-related reinterventions.
Topics: Humans; Male; Endovascular Procedures; Aged; Female; Retrospective Studies; Aorta, Thoracic; Middle Aged; Aortic Diseases; Blood Vessel Prosthesis Implantation; Treatment Outcome; Aortic Aneurysm, Thoracic; Postoperative Complications; Blood Vessel Prosthesis; Endovascular Aneurysm Repair
PubMed: 38733578
DOI: 10.1093/ejcts/ezae185 -
International Journal of Molecular... May 2024Cardiovascular outcome in Marfan syndrome (MFS) patients most prominently depends on aortic aneurysm progression with subsequent aortic dissection. Angiotensin II...
Cardiovascular outcome in Marfan syndrome (MFS) patients most prominently depends on aortic aneurysm progression with subsequent aortic dissection. Angiotensin II receptor blockers (ARBs) prevent aneurysm formation in MFS mouse models. In patients, ARBs only slow down aortic dilation. Downstream signalling from the angiotensin II type 1 receptor (AT1R) is mediated by G proteins and β-arrestin recruitment. AT1R also interacts with the monocyte chemoattractant protein-1 (MCP-1) receptor, resulting in inflammation. In this study, we explore the targeting of β-arrestin signalling in MFS mice by administering TRV027. Furthermore, because high doses of the ARB losartan, which has been proven beneficial in MFS, cannot be achieved in humans, we investigate a potential additive effect by combining lower concentrations of losartan (25 mg/kg/day and 5 mg/kg/day) with barbadin, a β-arrestin blocker, and DMX20, a C-C chemokine receptor type 2 (CCR2) blocker. A high dose of losartan (50 mg/kg/day) slowed down aneurysm progression compared to untreated MFS mice (1.73 ± 0.12 vs. 1.96 ± 0.08 mm, = 0.0033). TRV027, the combination of barbadin with losartan (25 mg/kg/day), and DMX-200 (90 mg/kg/day) with a low dose of losartan (5 mg/kg/day) did not show a significant beneficial effect. Our results confirm that while losartan effectively halts aneurysm formation in MFS mice, neither TRV027 alone nor any of the other compounds combined with lower doses of losartan demonstrate a notable impact on aneurysm advancement. It appears that complete blockade of AT1R function, achieved by administrating a high dosage of losartan, may be necessary for inhibiting aneurysm progression in MFS.
Topics: Animals; Marfan Syndrome; Mice; Losartan; Receptor, Angiotensin, Type 1; Signal Transduction; Angiotensin II Type 1 Receptor Blockers; Disease Models, Animal; Aortic Aneurysm; Male; beta-Arrestins; Receptors, CCR2; Mice, Inbred C57BL
PubMed: 38732244
DOI: 10.3390/ijms25095025 -
Heart (British Cardiac Society) May 2024
Topics: Female; Humans; Dyspnea
PubMed: 38729634
DOI: 10.1136/heartjnl-2023-323861 -
Journal of Vascular Surgery May 2024Thoracic endovascular aortic repair (TEVAR) in patients with genetic aortopathies (GA) is controversial, given concerns of durability. We describe characteristics and...
OBJECTIVE
Thoracic endovascular aortic repair (TEVAR) in patients with genetic aortopathies (GA) is controversial, given concerns of durability. We describe characteristics and outcomes after TEVAR in patients with GA.
METHODS
All patients undergoing TEVAR between 2010 and 2023 in the Vascular Quality Iniatitive were identified and categorized as having a GA or not. Demographics, baseline, and procedural characteristics were compared among groups. Multivariable logistic regression was used to evaluate the independent association of GA with postoperative outcomes. Kaplan-Meier methods and multivariable Cox regression analyses were used to evaluate 5-year survival and 2-year reinterventions.
RESULTS
Of 19,340 patients, 304 (1.6%) had GA (87% Marfan syndrome, 9% Loeys-Dietz syndrome, and 4% vascular Ehlers-Danlos syndrome). Compared with patients without GA, patients with GA were younger (50 years [interquartile range, 37-72 years] vs 70 years [interquartile range, 61-77 years]), more often presented with acute dissection (28% vs 18%), postdissection aneurysm (48% vs 17%), had a symptomatic presentation (50% vs 39%), and were less likely to have degenerative aneurysms (18% vs 47%) or penetrating aortic ulcer (and intramural hematoma) (3% vs 13%) (all P < .001). Patients with GA were more likely to have prior repair of the ascending aorta/arch (open, 56% vs 11% [P < .001]; endovascular, 5.6% vs 2.1% [P = .017]) or the descending thoracic aorta (open, 12% vs 2% [P = .007]; endovascular, 8.2% vs 3.6% [P = .011]). No significant differences were found in prior abdominal suprarenal repairs; however, patients with GA had more prior open infrarenal repairs (5.3% vs 3.2%), but fewer prior endovascular infrarenal repairs (3.3% vs 5.5%) (all P < .05). After adjusting for demographics, comorbidities, and disease characteristics, patients with GA had similar odds of perioperative mortality (4.6% vs 7.0%; adjusted odds ratio [aOR], 1.1; 95% confidence interval [CI], 0.57-1.9; P = .75), any in-hospital complication (26% vs 23%; aOR, 1.24; 95% CI, 0.92-1.6; P = .14), or in-hospital reintervention (13% vs 8.3%; aOR, 1.25; 95% CI, 0.84-1.80; P = .25) compared with patients without GA. However, patients with GA had a higher likelihood of postoperative vasopressors (33% vs 27%; aOR, 1.44; 95% CI, 1.1-1.9; P = .006) and transfusion (25% vs 23%; aOR, 1.39; 95% CI, 1.03-1.9; P = .006). The 2-year reintervention rates were higher in patients with GA (25% vs 13%; adjusted hazard ratio, 1.99; 95% CI, 1.4-2.9; P < .001), but 5-year survival was similar (81% vs 74%; adjusted hazard ratio, 1.02; 95% CI, 0.70-1.50; P = .1).
CONCLUSIONS
TEVAR for patients with GA seemed to be safe initially, with similar odds for in-hospital complications, in-hospital reinterventions, and perioperative mortality, as well as similar hazards for 5-year mortality compared with patients without GA. However, patients with GA had higher 2-year reintervention rates. Future studies should assess long-term durability after TEVAR compared with the recommended open repair to appropriately weigh the risks and benefits of endovascular treatment in patients with GA.
PubMed: 38729586
DOI: 10.1016/j.jvs.2024.05.002 -
Medicine May 2024Marfan syndrome (MFS), which is a dominantly inherited connective tissue disease resulting from a mutation in the FBN1 gene, exhibits variable manifestations affecting...
RATIONALE
Marfan syndrome (MFS), which is a dominantly inherited connective tissue disease resulting from a mutation in the FBN1 gene, exhibits variable manifestations affecting the cardiovascular, musculoskeletal, ophthalmologic, and pulmonary systems. Notably, neurologic deficiency, which involves ischemic or hemorrhagic stroke, is a rare but severe manifestation. The safety of rt-PA treatment for ischemic stroke caused by MFS is still under discussion.
PATIENT CONCERNS
In the current report, we discuss 3 atypical MFS cases presented as acute ischemic stroke, compared to those exhibiting cardiovascular and musculoskeletal abnormalities.
DIAGNOSES
Three patients were diagnosed with acute ischemic stroke accompanied by MFS based on clinical manifestations, imaging examinations, and genetic testings.
INTERVENTIONS
The first case underwent intravenous thrombolytic therapy with rt-PA, the second case received antiplatelet therapy, and the third case received anticoagulant therapy and perfusion therapy.
OUTCOMES
The neurologic deficiency of all three patients showed improvement upon discharge, and there were no symptoms of recurrence observed during the follow-up period.
LESSONS SUBSECTIONS
MFS is a rare etiology in young people with embolic stroke of undetermined source. Physicians should take MFS into consideration when they observe the characteristic symptoms during a consultation. The potential pathogenesis of ischemic stroke secondary to MFS may include cardio-embolism, arterial dissection, and hypoperfusion. Although intravenous thrombolysis is a promising therapy to treat acute ischemic stroke, further examinations should be conducted to rule out contraindications in patients with a suspicion of MFS.
Topics: Humans; Marfan Syndrome; Ischemic Stroke; Male; Adult; Female; Thrombolytic Therapy; Tissue Plasminogen Activator; Anticoagulants; Platelet Aggregation Inhibitors
PubMed: 38728516
DOI: 10.1097/MD.0000000000037924 -
European Heart Journal. Cardiovascular... May 2024Data on mitral annular disjunction (MAD) in children with Marfan syndrome (MFS) are sparse.
BACKGROUND
Data on mitral annular disjunction (MAD) in children with Marfan syndrome (MFS) are sparse.
OBJECTIVES
To investigate the diagnostic yield of MAD by echocardiography and cardiac magnetic resonance imaging (CMR), its prevalence and progression during childhood.
METHODS
We included patients <21 years old with MFS, defined by 2010 Ghent criteria and a pathogenic FBN1 variant or ectopia lentis. Two readers measured systolic separation between the mitral valve (MV) posterior hinge point and left ventricular (LV) myocardium on initial and subsequent imaging. MAD was defined as MV-LV separation ≥2 mm, MV prolapse (MVP) as atrial displacement ≥2 mm. Kappa coefficients evaluated echocardiogram-CMR agreement. Bland-Altman and intraclass correlation coefficients (ICC) assessed interrater and intermodality reliability. Univariable mixed-effects linear regression was used to evaluate longitudinal changes of MAD.
RESULTS
MAD was detected in 60% (110/185) eligible patients. MVP was present in 48% (53/110) of MAD and MAD in 90% (53/59) of MVP. MAD detection by CMR and echocardiography had 96% overall agreement (Kappa = 0.89, p < 0.001) and a 0.32-mm estimate bias (95%CI 0.00, 0.65). ICC by echocardiography, CMR, and between modalities were 0.97 (95%CI 0.93, 0.98), 0.92 (95%CI 0.79, 0.97), and 0.91 (95%CI 0.85, 0.94), respectively. MAD was associated with aortic root dilation (p < 0.001). MAD was found in children of all ages, increased +0.18 mm/year (95%CI +0.14, + 0.22) during a median duration of 5.5 years (IQR 3.1, 7.5 years). MAD indexed by height yielded a constant value +0.0002 mm/m/year (95%CI -0.0002, + 0.0005 mm/m/year).
CONCLUSIONS
MAD was common in pediatric MFS and was associated with aortic root dilation. MAD detection by echocardiography and CMR was highly reliable, suggesting that routine assessment in MFS is feasible. MAD was present in neonates and progressed over time but remained constant when indexing by height. Further studies are needed to evaluate MAD as a biomarker for clinical outcomes in pediatric MFS.
PubMed: 38728377
DOI: 10.1093/ehjci/jeae125 -
Pediatric Cardiology May 2024We performed a secondary analysis of the Pediatric Heart Network (PHN) Marfan Trial public-use database to evaluate associations between extracardiac features and...
We performed a secondary analysis of the Pediatric Heart Network (PHN) Marfan Trial public-use database to evaluate associations between extracardiac features and cardiac and aortic phenotypes in study participants. Aortic aneurysm phenotype was defined as aortic root Z-score ≥4.5, aortic root growth rate ≥75th percentile, aortic dissection, and aortic surgery. Severe cardiac phenotype was defined as aortic dissection, aortic Z-score ≥4.5, aortic valve surgery, at least moderate mitral regurgitation, mitral valve surgery, left ventricular dysfunction, or death. Extracardiac manifestations were characterized by specific organ system involvement and by a novel aggregate extracardiac score (AES) that was created for this study based on the original Ghent nosology. Mixed effects logistic regression analysis compared AES and systems involvement to outcomes. Of 608 participants (60% male), the median age at enrollment was 10.8 years (interquartile range: 6, 15.4). Aortic aneurysm phenotype was observed in 71% of participants and 64% had severe cardiac phenotype. On univariable analysis, skeletal (OR: 1.95, 95% CI: 1.01, 3.72; p = 0.05), skin manifestation (OR: 1.62, 95% CI: 1.13, 2.34; p = 0.01) and AES (OR: 1.17, 95% CI: 1.02, 1.34; p = 0.02) were associated with aortic aneurysm phenotype but were not significant in multivariable analysis. There was no association between extracardiac manifestations and severe cardiac phenotype. Thus, the severity of cardiac manifestations in Marfan syndrome (MFS) was independent of extracardiac phenotype and AES. Severity of extracardiac involvement did not appear to be a useful clinical marker for cardiovascular risk-stratification in this cohort of children and young adults with MFS.
PubMed: 38727826
DOI: 10.1007/s00246-024-03502-z -
Kyobu Geka. the Japanese Journal of... May 2024A 52-year-old woman with Marfan syndrome developed Stanford type B aortic dissection and was treated with thoracic endovascular aortic repair. However, 29 months later,...
A 52-year-old woman with Marfan syndrome developed Stanford type B aortic dissection and was treated with thoracic endovascular aortic repair. However, 29 months later, she presented with retrograde Stanford type A aortic dissection. We successfully performed aortic arch replacement with the frozen elephant trunk technique and valve-sparing aortic root replacement. The advantages of the frozen elephant trunk technique are that the distal anastomosis can be created without stent-graft resection and the cardiac arrest time is shortened. Therefore, the frozen elephant trunk technique was considered valuable and safe in this potentially lethal situation.
Topics: Humans; Female; Marfan Syndrome; Middle Aged; Aortic Dissection; Endovascular Procedures; Aortic Aneurysm, Thoracic; Blood Vessel Prosthesis Implantation; Aorta, Thoracic; Endovascular Aneurysm Repair
PubMed: 38720604
DOI: No ID Found -
The Journal of the Association of... Nov 2023Ectopia lentis has a myriad of causes, with Marfan's syndrome and homocystinuria being well-known causes. Here, we report two siblings with ectopia lentis and tall...
Ectopia lentis has a myriad of causes, with Marfan's syndrome and homocystinuria being well-known causes. Here, we report two siblings with ectopia lentis and tall stature presenting with a diagnostic challenge. : Hussain SJ, Amalnath D, Kasthuri N, Familial Ectopia Lentis: Looking Beyond Marfan's Syndrome. J Assoc Physicians India 2023;71(11):94-95.
Topics: Humans; Ectopia Lentis; Marfan Syndrome; Male; Female
PubMed: 38720505
DOI: 10.59556/japi.71.0388 -
Multidisciplinary follow-up in a patient with Morgagni hernia leads to diagnosis of Marfan syndrome.Italian Journal of Pediatrics May 2024congenital diaphragmatic hernia (CDH) is a birth defect occurring in isolated or syndromic (chromosomal or monogenic) conditions. The diaphragmatic defect can be the...
BACKGROUND
congenital diaphragmatic hernia (CDH) is a birth defect occurring in isolated or syndromic (chromosomal or monogenic) conditions. The diaphragmatic defect can be the most common one: left-sided posterolateral, named Bochdalek hernia; or it can be an anterior-retrosternal defect, named Morgagni hernia. Marfan syndrome (MFS) is a rare autosomal dominant inherited condition that affects connective tissue, caused by mutations in fibrillin-1 gene on chromosome 15. To date various types of diaphragmatic defects (about 30 types) have been reported in association with MFS, but they are heterogeneous, including CDH and paraesophageal hernia.
CASE PRESENTATION
We describe the case of a child incidentally diagnosed with Morgagni hernia through a chest X-ray performed due to recurrent respiratory tract infections. Since the diagnosis of CDH, the patient underwent a clinical multidisciplinary follow-up leading to the diagnosis of MFS in accordance with revised Ghent Criteria: the child had typical clinical features and a novel heterozygous de novo single-base deletion in exon 26 of the FBN1 gene, identified by Whole-Exome Sequencing. MFS diagnosis permitted to look for cardiovascular complications and treat them, though asymptomatic, in order to prevent major cardiovascular life-threatening events.
CONCLUSION
Our case shows the importance of a long-term and multidisciplinary follow-up in all children with diagnosis of CDH.
Topics: Humans; Adipokines; Fibrillin-1; Follow-Up Studies; Hernias, Diaphragmatic, Congenital; Marfan Syndrome; Child
PubMed: 38715046
DOI: 10.1186/s13052-024-01643-8