Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 1.272
Filtrar
1.
BMJ Case Rep ; 14(1)2021 Jan 18.
Artigo em Inglês | MEDLINE | ID: mdl-33461988

RESUMO

Patients with syndromic craniosynostosis are usually associated with the complexity of the malformation complex. We describe here detailed oculo-motility disorder and a remarkable finding of hypoplastic bilateral media recti on imaging and its intraoperative absence in patients with phenotypic features resembling Shprintzen-Goldberg syndrome (SGS). SGS is a rare congenital disorder with craniosynostosis affecting multiple systems including mentation and having a considerable overlap of its phenotypic features with Marfan syndrome. Large A-pattern exotropia found in these patients may be related to the craniofacial features and their bearing on extraocular muscle development and function. In this paper, we aimed to sensitise ophthalmologists and strabismologists concerning the necessity to recognise syndromic associations of patients with craniosynostosis presenting with a large squint, be aware of the intraoperative surprises and consider the challenges in its management.


Assuntos
Aracnodactilia/diagnóstico , Aracnodactilia/cirurgia , Craniossinostoses/diagnóstico , Craniossinostoses/cirurgia , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/cirurgia , Músculos Oculomotores/anormalidades , Aracnodactilia/patologia , Criança , Craniossinostoses/patologia , Humanos , Masculino , Síndrome de Marfan/patologia
5.
Vasc Endovascular Surg ; 54(8): 676-680, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32729398

RESUMO

OBJECTIVES: Thoracic endovascular aortic repair (TEVAR) remains controversial in patients with connective tissue disorders given the concern for durability. We report on the largest series to date on outcomes of patients with thoracic aortic disease and connective tissue disorders treated with TEVAR. METHODS: The Vascular Quality Initiative registry identified 12 207 patients treated with TEVAR from January 2010 to December 2018, including 102 with Marfans, Ehlers-Danlos, or Loey-Dietz syndrome. Outcomes were analyzed per the Society for Vascular Surgery reporting standards. RESULTS: Median age was 50.6 years (interquartile range: 57.0-75.0), and 62 (60.7%) were male. Eighty-eight (86.3%) patients had Marfan, 9 (8.8%) had Ehlers-Danlos, and 5 (4.9%) had Loey-Dietz syndrome. Twenty-six (25.5%) patients were treated for degenerative aneurysmal disease and 76 (74.5%) patients for type B dissections (33 acute, 31 chronic). Most common indications for interventions in patients with type B dissection were pain (n = 41), aneurysmal degeneration (n = 16), and malperfusion (n = 8), with 3 patients who presented ruptured. There was no significant difference in perioperative complications between acute/chronic dissections and aneurysms (P = .14). Percutaneous access was utilized in 61.7% of patients, with a 2.9% rate of arterial injury requiring reintervention. Follow-up data were available for 75 (73.3%) patients at a mean follow-up of 15.6 months. Overall mortality was 5.3%. There were 30 patients with follow-up endoleak data, and 8 (26.7%) endoleaks were identified. All endoleaks were in patients treated for acute type B dissection, and all resolved after a mean of 2.1 reinterventions. Three patients treated for acute Type B Aortic Dissection (TBAD) had retrograde dissections requiring intervention. DISCUSSION: Thoracic endovascular aortic repair for patients with connective tissue disorders can be performed with low perioperative mortality, spinal cord ischemia, or Cerebrovascular Accident (CVA). On follow-up, acute type B aortic dissections represent a higher risk subgroup with increased rates of endoleak and retrograde dissection. Closer follow-up for these patients and early reintervention may be beneficial.


Assuntos
Aneurisma Dissecante/cirurgia , Aneurisma da Aorta Torácica/cirurgia , Ruptura Aórtica/cirurgia , Implante de Prótese Vascular , Síndrome de Ehlers-Danlos/complicações , Procedimentos Endovasculares , Síndrome de Loeys-Dietz/complicações , Síndrome de Marfan/complicações , Adulto , Idoso , Aneurisma Dissecante/diagnóstico por imagem , Aneurisma Dissecante/etiologia , Aneurisma Dissecante/mortalidade , Aneurisma da Aorta Torácica/diagnóstico por imagem , Aneurisma da Aorta Torácica/etiologia , Aneurisma da Aorta Torácica/mortalidade , Ruptura Aórtica/diagnóstico por imagem , Ruptura Aórtica/etiologia , Ruptura Aórtica/mortalidade , Implante de Prótese Vascular/efeitos adversos , Implante de Prótese Vascular/instrumentação , Implante de Prótese Vascular/mortalidade , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/mortalidade , Procedimentos Endovasculares/efeitos adversos , Procedimentos Endovasculares/instrumentação , Procedimentos Endovasculares/mortalidade , Feminino , Humanos , Síndrome de Loeys-Dietz/diagnóstico , Síndrome de Loeys-Dietz/mortalidade , Masculino , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/mortalidade , Pessoa de Meia-Idade , Complicações Pós-Operatórias/etiologia , Sistema de Registros , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo , Resultado do Tratamento
8.
J Card Surg ; 35(7): 1736-1739, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32497341

RESUMO

The impact of the coronavirus disease 2019 (COVID-19) pandemic in New York City (NYC) is dramatic. COVID-19 cases surged, hospitals expanded to meet capacity, and NYC remains the global epicenter of this pandemic. During this unprecedented time, a young woman with known Marfan syndrome presented with an acute complicated type B aortic dissection to our Aortic Center. Using the provisional extension to induce a complete attachment technique, we treated this patient and quickly discharged her the next day to decrease the risk of COVID-19 infection. Her progress was monitored using frequent phone calls and one office visit at two weeks.


Assuntos
Aneurisma Dissecante/cirurgia , Aneurisma da Aorta Torácica/cirurgia , Implante de Prótese Vascular/métodos , Infecções por Coronavirus/epidemiologia , Procedimentos Endovasculares/métodos , Pneumonia Viral/epidemiologia , Dor Abdominal/diagnóstico , Dor Abdominal/etiologia , Doença Aguda , Adulto , Aneurisma Dissecante/diagnóstico por imagem , Aneurisma Dissecante/etiologia , Aneurisma da Aorta Torácica/diagnóstico por imagem , Aneurisma da Aorta Torácica/etiologia , Dor no Peito/diagnóstico , Dor no Peito/etiologia , Infecções por Coronavirus/diagnóstico , Infecção Hospitalar/prevenção & controle , Feminino , Seguimentos , Humanos , Tempo de Internação , Angiografia por Ressonância Magnética/métodos , Síndrome de Marfan/complicações , Síndrome de Marfan/diagnóstico , Cidade de Nova Iorque , Pandemias , Pneumonia Viral/diagnóstico , Índice de Gravidade de Doença , Resultado do Tratamento
9.
Vascular ; 28(6): 834-841, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32423364

RESUMO

OBJECTIVES: Marfan syndrome and Ehlers-Danlos syndrome represent two connective tissue vascular diseases requiring unique consideration in their vascular surgical care. A comprehensive national review encompassing all hospitalizations for the Marfan Syndrome and Ehlers-Danlos syndrome patient population is lacking. METHODS: The National (Nationwide) Inpatient Sample from 2010 to 2014 was reviewed for all inpatient vascular surgery procedures including those with a diagnosis of Marfan syndrome and Ehlers-Danlos syndrome. National estimates of vascular surgery rates were generated from provided weights. Patient demographics, procedure type, and outcomes were assessed. RESULTS: There were 3103 Marfan syndrome and 476 Ehlers-Danlos syndrome vascular procedures identified as well as 3,895,381 vascular procedures in the remainder of population (control group). The percent of aortic procedures from all vascular procedures in Marfan syndrome (23.5%) and Ehlers-Danlos syndrome (23.5%) were 2.5-fold higher than controls (9.1%), p < 0.0001. Open aortic aneurysm repair was also significantly greater in both Marfan syndrome (16.8%) and Ehlers-Danlos syndrome (11.2%) compared to controls (4.4%), p < 0.0001. Endovascular aortic repair (p < 0.2302) was similar among the groups. Marfan syndrome (7.7%) and Ehlers-Danlos syndrome (5.1%) had more thoracic endovascular aortic repair performed than controls (0.7%), p < 0.0001. Percutaneous procedures were fewer in Marfan syndrome (6.3%) than controls (31.3%) and Ehlers-Danlos syndrome (26.3%), p < 0.0001, while repair of peripheral arteries was greater in Marfan syndrome (5.9%) and Ehlers-Danlos syndrome (4.1%) than controls (1.5%), p < 0.0001. For total aortic procedures, the mean age of aortic procedures was 68.2 years in controls vs 45.8 years in Marfan syndrome and 55.3 years in Ehlers-Danlos syndrome, p < 0.0001. Marfan syndrome and Ehlers-Danlos syndrome had fewer comorbidities overall, while controls had significantly higher rates of coronary artery disease (controls 39.9% vs Marfan syndrome 8.3% and Ehlers-Danlos syndrome 13.0%, p < 0.0001), peripheral vascular disease (controls 34.5% vs Marfan syndrome 4.2% and Ehlers-Danlos syndrome 8.7%, p < 0.0001), and diabetes (controls 20.6% vs Marfan syndrome 6.6 and Ehlers-Danlos syndrome 4.4%, p < 0.0001). Marfan syndrome and Ehlers-Danlos syndrome had higher overall complication rate (65.5% and 52.2%) compared to controls (44.6%), p < 0.0001. Postoperative hemorrhage was more likely in Marfan syndrome (42.9%) and Ehlers-Danlos syndrome (39.1%) than controls (22.2%), p < 0.0001. Increased respiratory failure was noted in Marfan syndrome (20.2%) vs controls (10.7%) and Ehlers-Danlos syndrome (8.7%), p = .0003. Finally, length of stay was increased in Marfan syndrome 12.5 days vs Ehlers-Danlos syndrome 7.4 days and controls 7.2 days (p < 0.0001) as well as a higher median costs of index hospitalization in Marfan syndrome ($57,084 vs Ehlers-Danlos syndrome $22,032 and controls $26,520, p < 0.0001). CONCLUSIONS: Patients with Marfan syndrome and Ehlers-Danlos syndrome differ from other patients undergoing vascular surgical procedures, with a significantly higher proportion of aortic procedures including open aneurysm repair and thoracic endovascular aortic repair. While they are younger with fewer comorbidities, due to the unique pathogenesis of their underlying connective tissue disorder, there is an overall higher rate of procedural complications and increased length of stay and cost for Marfan syndrome patients undergoing aortic surgery.


Assuntos
Doenças da Aorta/cirurgia , Síndrome de Ehlers-Danlos/complicações , Procedimentos Endovasculares/tendências , Síndrome de Marfan/complicações , Procedimentos Cirúrgicos Vasculares/tendências , Idoso , Doenças da Aorta/diagnóstico por imagem , Doenças da Aorta/economia , Doenças da Aorta/etiologia , Bases de Dados Factuais , Síndrome de Ehlers-Danlos/diagnóstico , Síndrome de Ehlers-Danlos/economia , Procedimentos Endovasculares/efeitos adversos , Procedimentos Endovasculares/economia , Feminino , Custos Hospitalares/tendências , Humanos , Pacientes Internados , Tempo de Internação , Masculino , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/economia , Pessoa de Meia-Idade , Complicações Pós-Operatórias/terapia , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo , Resultado do Tratamento , Estados Unidos , Procedimentos Cirúrgicos Vasculares/efeitos adversos , Procedimentos Cirúrgicos Vasculares/economia
10.
J Pediatr ; 221: 188-195.e1, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-32446479

RESUMO

OBJECTIVE: To determine whether the Ghent Criteria (2010) can be reliably used in evaluating preadolescents and adolescents for Marfan syndrome by comparing aortic growth, systemic scores, and anthropometric features in individuals with and without Marfan syndrome. STUDY DESIGN: A retrospective chart review was completed for patients less than 15 years of age referred for Marfan syndrome. Comparisons were made between the first and last visit. Paired t tests were used to compare Ghent systemic scores. Wilcoxon rank-sum test were used to compare age, aortic root z scores, height z scores, and body mass index z scores. Recursive partitioning was used to identify combinations of factors to distinguish Marfan syndrome. RESULTS: In total, 53 individuals met inclusion criteria (29 Marfan syndrome and 24 non-Marfan syndrome). Ghent systemic score increased in the Marfan syndrome group and declined in the non-Marfan syndrome. The non-Marfan syndrome group did not develop progressive aortic root dilation with age. Individuals with Marfan syndrome had higher median height z scores than non-Marfan syndrome, with no difference in median body mass index z score between groups. A combination of aortic root z score above 0.95 and Ghent systemic score above 3 was highly indicative of a Marfan syndrome diagnosis in children less than 15 years of age. CONCLUSION: The Ghent criteria (2010) can be used to reliably exclude a diagnosis of Marfan syndrome in individuals less than 15 years of age. Genetic testing should be used as an aide in confirming or excluding the diagnosis of Marfan syndrome in individuals with an aortic root z score above 0.95 in combination with a Ghent systemic score above 3 at initial visit.


Assuntos
Aorta/diagnóstico por imagem , Síndrome de Marfan/diagnóstico , Adolescente , Estatura , Índice de Massa Corporal , Criança , Ecocardiografia , Fibrilina-1 , Seguimentos , Testes Genéticos , Humanos , Imagem Cinética por Ressonância Magnética , Síndrome de Marfan/genética , Mutação , Estudos Retrospectivos
11.
Int J Cardiovasc Imaging ; 36(8): 1533-1542, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32314122

RESUMO

Aortic diameter measurements play a crucial role for the indication of aortic root surgery in Marfan patients. However, for magnetic resonance angiography (MRA)-derived measurements, there is no consensus on whether the aortic wall should be included or excluded in the aortic diameter. The purpose of this retrospective study was to compare the reliability of non-contrast bright blood MRA aortic inner-to-inner and outer-to-outer edge measurements in patients with Marfan syndrome. Forty Marfan patients underwent ECG-gated balanced steady-state free-precession MRA of the aorta at 1.5 T. Two readers independently performed inner and outer measurements at different aortic levels. They rated the image quality of the delineation of both inner and outer vessel wall edges on a four-point scale. MRA-derived diameters of the sinuses of Valsalva were compared with echocardiography-derived diameters. Aortic vessel wall delineation score was rated higher at all levels for inner than for outer vessel walls (p < 0.001). Inter- and intraobserver variances of aortic measurements were smaller for inner-to-inner measurements at the sinuses of Valsalva, sinotubular junction and ascending aorta (p < 0.03). There was a difference of 1.1 ± 2.3 mm for inner MRA measurements (p = 0.014) and 6.9 ± 3.1 mm for outer MRA measurements (p < 0.001) when compared to echocardiographic leading-edge measurements. Inner-to-inner vessel wall diameter measurements in non-contrast bright blood MRA provide more reliable diameters when compared to outer-to-outer vessel wall measurements of the aortic root. Therefore, we propose to rely on inner rather than outer aortic wall measurements in non-contrast-MRA when monitoring aortic diameters in patients with Marfan syndrome.


Assuntos
Aorta/diagnóstico por imagem , Aneurisma Aórtico/diagnóstico por imagem , Angiografia por Ressonância Magnética , Síndrome de Marfan/complicações , Seio Aórtico/diagnóstico por imagem , Adolescente , Adulto , Aorta/fisiopatologia , Aneurisma Aórtico/etiologia , Aneurisma Aórtico/fisiopatologia , Técnicas de Imagem de Sincronização Cardíaca , Dilatação Patológica , Eletrocardiografia , Feminino , Humanos , Masculino , Síndrome de Marfan/diagnóstico , Pessoa de Meia-Idade , Variações Dependentes do Observador , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Estudos Retrospectivos , Seio Aórtico/fisiopatologia , Remodelação Vascular , Adulto Jovem
13.
J Vasc Surg ; 72(2): 480-489, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32085956

RESUMO

OBJECTIVE: Patients with Marfan syndrome (MFS) often present with acute catastrophic aortic events at a young age and have a shortened life span. This study examines the impact of presentation and demographics on late survival in patients with MFS. METHODS: Adults with confirmed MFS in our thoracic aortic center dataset were identified and statistical analysis performed to identify the incidence and predictors of aortic interventions and late mortality. RESULTS: We identified 301 patients with a MFS initial diagnosis at age 17 years (interquartile range, 4-30 years) with presentation into our thoracic aortic center at 21 years (interquartile range, 8-34 years). The average follow-up in our center was 10 ± 10 years. Clinical features were 41% male, 86% white race, coronary artery disease 28%, hypertension 40%, peripheral vascular disease 19%, and anti-impulse agent in 51% (ß-blocker, angiotensin-converting enzyme inhibitor/angiotensin receptor blocker, calcium channel blocker). Distribution of operative aortic pathology was isolated to the ascending aorta (70%) and descending aorta (8%). One hundred seventy-eight patients (59%) required primary aortic surgery (36% emergent). Primary procedures were cardiac (aortic valve/root) in nature in 94%. Seventy-four patients (42%) required multiple aortic procedures at a mean of 9.2 ± 6.9 years, involving the thoracoabdominal aorta in 65%, thoracic aorta in 37%, and abdominal aorta in 21%. Patients who required multiple aortic procedures were more likely (P < .05) to have coronary artery disease (50% vs 30%), and peripheral vascular disease (43% vs 18%). Multiple aortic procedures were also more likely (P < .05) in patients who developed de novo distal dissection (14% vs 0%), had prior dissection (47% vs 18%), or unknown MFS at the time of the initial procedure (27% vs 63%). Multivariable analysis identified prior dissection as an independent predictor of need for emergent surgery (odds ratio, 13.20; 95% confidence interval, 4.64-37.30; P < .05), as well as additional aortic surgery (odds ratio, 4.42; 95% confidence interval, 1.87-10.50; P < .05). Kaplan-Meier analysis showed similar 10-year survival with or without aortic interventions (82% with vs 89% without; P = .08). Late survival was decreased in patients undergoing emergent initial procedures (66% vs 89%; P < .01), as well as those undergoing multiple operations (74% vs 86%; P = .03). CONCLUSIONS: These data indicate that, in the modern era, the mode of presentation and need for multiple procedures have a detrimental impact on late survival. Additionally, the presence of acute or chronic dissection predicts the need for additional aortic procedures during follow-up.


Assuntos
Aneurisma Dissecante/cirurgia , Aneurisma da Aorta Abdominal/cirurgia , Aneurisma da Aorta Torácica/cirurgia , Síndrome de Marfan/complicações , Sobreviventes , Procedimentos Cirúrgicos Vasculares , Doença Aguda , Adolescente , Adulto , Aneurisma Dissecante/diagnóstico por imagem , Aneurisma Dissecante/etiologia , Aneurisma Dissecante/mortalidade , Aneurisma da Aorta Abdominal/diagnóstico por imagem , Aneurisma da Aorta Abdominal/etiologia , Aneurisma da Aorta Abdominal/mortalidade , Aneurisma da Aorta Torácica/diagnóstico por imagem , Aneurisma da Aorta Torácica/etiologia , Aneurisma da Aorta Torácica/mortalidade , Criança , Pré-Escolar , Doença Crônica , Feminino , Humanos , Masculino , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/mortalidade , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Fatores de Tempo , Resultado do Tratamento , Procedimentos Cirúrgicos Vasculares/efeitos adversos , Procedimentos Cirúrgicos Vasculares/mortalidade , Adulto Jovem
14.
Hum Genet ; 139(4): 461-472, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31980905

RESUMO

SKI pathogenic variations are associated with Shprintzen-Goldberg Syndrome (SGS), a rare systemic connective tissue disorder characterized by craniofacial, skeletal and cardiovascular features. So far, the clinical description, including intellectual disability, has been relatively homogeneous, and the known pathogenic variations were located in two different hotspots of the SKI gene. In the course of diagnosing Marfan syndrome and related disorders, we identified nine sporadic probands (aged 2-47 years) carrying three different likely pathogenic or pathogenic variants in the SKI gene affecting the same amino acid (Thr180). Seven of these molecular events were confirmed de novo. All probands displayed a milder morphological phenotype with a marfanoid habitus that did not initially lead to a clinical diagnosis of SGS. Only three of them had learning disorders, and none had intellectual disability. Six out of nine presented thoracic aortic aneurysm, which led to preventive surgery in the oldest case. This report extends the phenotypic spectrum of variants identified in the SKI gene. We describe a new mutational hotspot associated with a marfanoid syndrome with no intellectual disability. Cardiovascular involvement was confirmed in a significant number of cases, highlighting the importance of accurately diagnosing SGS and ensuring appropriate medical treatment and follow-up.


Assuntos
Aracnodactilia , Craniossinostoses , Proteínas de Ligação a DNA/genética , Proteínas de Ligação a DNA/metabolismo , Síndrome de Marfan , Mutação , Proteínas Proto-Oncogênicas/genética , Proteínas Proto-Oncogênicas/metabolismo , Adolescente , Adulto , Aracnodactilia/diagnóstico , Aracnodactilia/genética , Aracnodactilia/metabolismo , Criança , Pré-Escolar , Craniossinostoses/diagnóstico , Craniossinostoses/genética , Craniossinostoses/metabolismo , Feminino , Humanos , Masculino , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/genética , Síndrome de Marfan/metabolismo , Pessoa de Meia-Idade , Patologia Molecular
15.
Rev Mal Respir ; 37(1): 86-90, 2020 Jan.
Artigo em Francês | MEDLINE | ID: mdl-31883816

RESUMO

INTRODUCTION: Because of its rarity and lack of specific symptoms, the diagnosis of Marfan's syndrome can be delayed. Though cardiovascular, skeletal and ophthalmological manifestations are the most frequent features, the respiratory system can also be involved. OBSERVATION: We report the case of a 35-year-old patient who presented with a large, right sided, encysted pyopneumothorax. The history revealed two episodes of spontaneous pneumothorax, cataract surgery ten years before his admission, and a similar case in the family. Clinical examination showed skeletal abnormalities of the wrist and thumb as well as deformity of the hindfoot with a flat foot. He had no characteristic thoracic deformity. Ophthalmologically, the right eye had a subluxed lens and the left eye had a totally subluxed cataract. CONCLUSION: The development of the third episode of pneumothorax led to the diagnosis of Marfan's syndrome thanks to the patient's combination of symptoms. To avoid diagnostic delay, criteria were established in 1996 and revised in 2010 to ensure an early diagnosis of this condition.


Assuntos
Síndrome de Marfan/complicações , Síndrome de Marfan/diagnóstico , Pneumotórax/diagnóstico , Pneumotórax/etiologia , Adulto , Diagnóstico Diferencial , Humanos , Masculino , Recidiva
16.
Arch Cardiovasc Dis ; 113(1): 40-49, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31735609

RESUMO

BACKGROUND: Little is known about the incidence of cardiovascular events (CVEs) and their associated risk markers in children with Marfan syndrome (MFS). AIMS: To assess the incidence of CVEs and determine risk markers in a cohort diagnosed with Marfan syndrome during childhood and followed for several years. METHODS: From a French multicentre nationwide database, 462 patients with MFS diagnosed during childhood were included prospectively. Patients' files were screened for a period of 20 years (1993-2013). CVEs (e.g. death, aortic dissection, cardiac valve or aortic root surgery) were assessed during the prospective follow-up. RESULTS: Median (interquartile range) age at the end of follow-up was 17.2 (11.1-21.3) years. CVEs were reported for 35 participants (7.6%; 95% confidence interval [CI] 5.3-10.4%). First CVEs were prophylactic aortic root surgery (n=29), aortic dissection (n=4; two aged <18 years) and death (n=2). Kaplan-Meier cumulative incidence of CVEs was 5.3% (95% CI 3.3-8.7%) during childhood (aged≤18 years) and 19.4% (95% CI 13.3-27.9%) at 25years of age. The cumulative rate of CVEs was higher in case of Valsalva sinus Z-score increase of≥0.1 per year (P=0.0003), maximal Valsalva sinus diameter growth speed ≥5mm per year (P=0.03), aortic regurgitation≥2 (P=0.0005) and maximal Valsalva sinus Z-score≥3 before 16 years of age (P<0.0001). In a multivariable Cox proportional analysis, the Valsalva sinus Z-score remained significantly related to outcome. Considering aortic root evolution, aortic regurgitation, age at diagnosis and beta-blocker therapy were related to Valsalva sinus Z-score evolution during follow-up. CONCLUSIONS: CVEs in children with MFS are mainly related to prophylactic aortic root surgery. Aortic dissections are rarely observed in children. The Valsalva sinus Z-score is a strong indicator of subsequent CVEs in children with MFS. Attention to follow-up and beta-blocker observance may be warranted in high-risk children.


Assuntos
Doenças Cardiovasculares/epidemiologia , Síndrome de Marfan/epidemiologia , Adolescente , Adulto , Fatores Etários , Doenças Cardiovasculares/diagnóstico , Doenças Cardiovasculares/mortalidade , Doenças Cardiovasculares/terapia , Criança , Pré-Escolar , Bases de Dados Factuais , Feminino , França/epidemiologia , Humanos , Incidência , Lactente , Masculino , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/mortalidade , Síndrome de Marfan/terapia , Prognóstico , Estudos Prospectivos , Medição de Risco , Fatores de Risco , Fatores de Tempo , Adulto Jovem
17.
Ann Thorac Surg ; 109(6): 1850-1857, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-31589859

RESUMO

BACKGROUND: The purpose of this study was to analyze the risk of aortic events (death, dissection, or aortic rupture) associated with Marfan syndrome and decide on the optimal timing for preventive surgery on the aortic root. METHODS: From January 2004 to June 2015, 397 patients from Marfan Units were studied by echocardiographic and computed tomography and magnetic resonance imaging of aorta and periodic annual monitoring. Mean follow-up was 5.6 ± 2.7 years. The annual incidence of aortic events was assessed according to aortic diameters for the optimal time for prophylactic surgery to be decided on. RESULTS: Mean age at the first visit was 28.4 ± 14.5 years, with mean sinuses of Valsalva diameter of 37.1 ± 6.6 mm., Eleven aortic events occurred during follow-up: seven deaths and four acute aortic dissections. Mean annual risk of an aortic event was 0.5% (risk of death 0.32% and risk of aortic dissection 0.18%). The increase in aortic diameters was associated with increased risk of 0.2% per year (95% confidence interval [CI], 0.03 to 0.5) with diameters less than 40 mm, 0.3% per year (95% CI, 0.1 to 1.4) between 40 and 44 mm, 1.3% per year (95% CI, 0.3 to 4.6) between 45 and 49 mm, and 5.2% per year (95% CI, 0.4 to 12.4) with diameters 50 mm or greater. Fifty-six patients underwent elective surgery with no inhospital mortality. Overall survival at 3, 5, and 10 years was 99% ± 5%, 98.6% ± 6%, and 95.5% ± 2.5%, respectively. CONCLUSIONS: The incidence of aortic events in patients with Marfan syndrome followed at specific units is low, although the risk increases with aortic diameters of 45 mm or greater. These results support current indications, but we consider it reasonable at experienced centers (elective root aortic surgery mortality less than 1%) to indicate an early surgery when the aortic root exceeds 45 mm.


Assuntos
Aneurisma Roto/cirurgia , Aorta Torácica/cirurgia , Aneurisma da Aorta Torácica/cirurgia , Síndrome de Marfan/complicações , Prevenção Secundária/métodos , Procedimentos Cirúrgicos Vasculares/métodos , Adolescente , Adulto , Idoso , Aneurisma Roto/diagnóstico , Aneurisma Roto/etiologia , Aorta Torácica/diagnóstico por imagem , Aneurisma da Aorta Torácica/diagnóstico , Aneurisma da Aorta Torácica/etiologia , Criança , Pré-Escolar , Ecocardiografia , Feminino , Seguimentos , Humanos , Masculino , Síndrome de Marfan/diagnóstico , Pessoa de Meia-Idade , Estudos Retrospectivos , Fatores de Tempo , Tomografia Computadorizada por Raios X , Adulto Jovem
18.
Ann Vasc Surg ; 64: 411.e1-411.e4, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31639477

RESUMO

BACKGROUND: True internal mammary artery aneurysms are rare but rupture has been described. CASE REPORT: A 39-year-old male patient with Marfan syndrome was diagnosed with large asymptomatic bilateral internal mammary artery aneurysms (IMAAs) on contrast-enhanced CT scan, without other arterial lesions. Both aneurysms were coil embolized, a stent graft was deployed in the left subclavian artery to cover a wide neck that precluded complete and safe embolization of the left IMAA. Reintervention on the right side was performed 5 years later due to recanalization. Eight years after the initial procedure, the patient presented with a type A aortic dissection that was successfully repaired. CONCLUSIONS: Although extremely rare, endovascular treatment should be considered to prevent rupture of internal mammary artery aneurysms.


Assuntos
Aneurisma/cirurgia , Implante de Prótese Vascular , Procedimentos Endovasculares , Artéria Torácica Interna/cirurgia , Síndrome de Marfan/complicações , Adulto , Aneurisma/diagnóstico por imagem , Aneurisma/etiologia , Prótese Vascular , Implante de Prótese Vascular/instrumentação , Embolização Terapêutica , Procedimentos Endovasculares/instrumentação , Humanos , Masculino , Artéria Torácica Interna/diagnóstico por imagem , Síndrome de Marfan/diagnóstico , Stents , Resultado do Tratamento
19.
Ann Thorac Surg ; 109(4): 1174-1182, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-31494136

RESUMO

BACKGROUND: This study sought to evaluate the long-term impact of frozen elephant trunk (FET) on the distal aorta of patients with Marfan syndrome (MFS) who had type I dissection confined to the thoracic aorta (above the diaphragmatic hiatus). METHODS: Between 2003 and 2016, 42 patients with MFS (Ghent or revised Ghent criteria) (age 33.3 ± 8.9 years; 27 men; 64.3%) sustaining type I dissection above the diaphragmatic hiatus involving the aortic arch (22 acute; 52.4%) underwent total arch replacement and FET. Dissection extended distally to the mid-descending aorta in 32 (76%) and to above the diaphragmatic hiatus in 10 (24%) patients. Operative mortality was 4.8% (2 of 42). Follow-up was 100% at 6.3 ± 3.0 years. RESULTS: Maximal aortic sizes at the mid-descending aorta, diaphragmatic hiatus, renal arteries, and largest segment of abdominal aorta were 22.8, 21.1, 19.1, and 19.9 mm preoperatively and 23.1, 22.0, 19.8, and 22.4 mm on the latest computed tomographic angiography. Dilation and complete remodeling of the distal aorta occurred in 10.0% (4 of 40) and 90% (36 of 40) of patients, respectively. One late death occurred, and 3 distal reoperations were performed. Preoperative abdominal aortic maximal aortic size was predictive of distal dilatation (mm) (hazard ratio, 1.78; P = .021) and reoperation (≥25 mm vs <25 mm) (hazard ratio, 12.88; P = .037). At 10 years, freedom from dilation, reoperation, and death were 69.8%, 78.1%, and 90.0%, respectively. At 8 years, the rates of death, reoperation, and reoperation-free survival were 10%, 11%, and 79%, respectively. CONCLUSIONS: The FET technique has a positive remodeling impact on type I dissection confined to the thoracic aorta in patients with MFS. This study adds evidence supporting the safety and durability of this extended approach for type I aortic dissection in MFS.


Assuntos
Aneurisma Dissecante/cirurgia , Aorta Torácica/cirurgia , Aneurisma da Aorta Torácica/cirurgia , Implante de Prótese Vascular/métodos , Síndrome de Marfan/complicações , Adolescente , Adulto , Aneurisma Dissecante/diagnóstico , Aneurisma Dissecante/etiologia , Aorta Torácica/diagnóstico por imagem , Aneurisma da Aorta Torácica/diagnóstico , Aneurisma da Aorta Torácica/etiologia , China/epidemiologia , Angiografia por Tomografia Computadorizada , Feminino , Seguimentos , Humanos , Incidência , Masculino , Síndrome de Marfan/diagnóstico , Pessoa de Meia-Idade , Complicações Pós-Operatórias/epidemiologia , Estudos Retrospectivos , Taxa de Sobrevida/tendências , Fatores de Tempo , Adulto Jovem
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...