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1.
Artículo en Inglés | MEDLINE | ID: mdl-39283297

RESUMEN

Thoracic endovascular aortic repair is commonly used in the surgical treatment of patients with aortic coarctation, but complications such as endoleaks can occur. This video tutorial presents a case study involving the exclusion of a stent graft from the bloodstream through total transection of the aortic arch and abdominal aorta, with off-pump aortic grafting and debranching of the left carotid and subclavian arteries.


Asunto(s)
Implantación de Prótesis Vascular , Endofuga , Procedimientos Endovasculares , Humanos , Endofuga/etiología , Endofuga/cirugía , Endofuga/diagnóstico , Procedimientos Endovasculares/métodos , Procedimientos Endovasculares/efectos adversos , Implantación de Prótesis Vascular/métodos , Implantación de Prótesis Vascular/efectos adversos , Masculino , Aorta Abdominal/cirugía , Stents , Aorta Torácica/cirugía , Prótesis Vascular/efectos adversos , Aneurisma de la Aorta Torácica/cirugía , Aneurisma de la Aorta Torácica/diagnóstico
2.
BMC Surg ; 24(1): 259, 2024 Sep 12.
Artículo en Inglés | MEDLINE | ID: mdl-39261808

RESUMEN

BACKGROUND: Techniques in endovascular therapy have evolved to offer a promising alternative to medical therapy alone for Type B aortic dissections (TBADs). AIM: The aim of this meta-analysis was to compare mortality and overall complications between thoracic endovascular aortic repair (TEVAR) and best medical therapy (BMT) in patients with TBADs. METHODS: We included randomized control trials and prospective or retrospective cohort studies that compared TEVAR and BMT for the treatment of type B aortic dissection. Multiple electronic databases were searched. RESULTS: Thirty-two cohort studies including 150,836 patients were included. TEVAR was associated with a significantly lower 30-day mortality rate than BMT (RR = 0.79, CI = 0.63, 0.99, P = 0.04), notably in patients ≥ 65 years of age (RR = 0.78, CI = 0.64, 0.95, P = 0.01). The TEVAR group had a significantly prolonged hospital stay (MD = 3.42, CI = 1.69, 5.13, P = 0.0001) and ICU stay (MD = 3.18, CI = 1.48, 4.89, P = 0.0003) compared to the BMT. BMT was associated with increased stroke risk (RR = 1.52, CI = 1.29, 1.79, P < 0.00001). No statistically significant differences in late mortality (1, 3, and 5 years) or intervention-related factors (acute renal failure, spinal cord ischemia, myocardial infarction, respiratory failure, and sepsis) were noted between the groups. CONCLUSION: Our meta-analysis revealed a significant association between the TEVAR group and a decreased mortality rate of TBAD compared to the medical treatment group, especially in patients aged 65 years or older. Further randomized controlled trials are needed to confirm our findings.


Asunto(s)
Aneurisma de la Aorta Torácica , Disección Aórtica , Procedimientos Endovasculares , Humanos , Procedimientos Endovasculares/métodos , Disección Aórtica/cirugía , Disección Aórtica/mortalidad , Aneurisma de la Aorta Torácica/cirugía , Aneurisma de la Aorta Torácica/mortalidad , Resultado del Tratamiento , Complicaciones Posoperatorias/epidemiología , Anciano , Aorta Torácica/cirugía , Reparación Endovascular de Aneurismas
3.
Medicine (Baltimore) ; 103(22): e38361, 2024 May 31.
Artículo en Inglés | MEDLINE | ID: mdl-39259132

RESUMEN

The potential role of smoking as a risk factor for thoracic aortic aneurysm is still a subject of debate. Therefore, it is important to systematically investigate the causal relationship between smoking and thoracic aortic aneurysm using Mendelian randomization methods. Genetic data were obtained from genome-wide association studies using the inverse variance weighting method as the primary approach. A thorough sensitivity analysis was conducted to ensure the reliability of the findings. Instrumental variables were assessed using the F statistic, and meta-analysis was employed to assess the average genetic predictive effect between smoking and thoracic aortic aneurysm. Our Mendelian randomization study found a positive association between smoking and thoracic aortic aneurysm. The odds ratios (OR) in the inverse variance weighting method were OR = 1.23 (95% confidence interval [CI] = 1.00-1.51; P = .053) and OR = 2.07 (95% CI = 1.10-3.91; P = .024). Furthermore, meta-analyses consistently demonstrated a positive causal relationship between ferritin and myocardial infarction, although statistical significance was not observed. The analysis results did not indicate any horizontal pleiotropy. Despite the presence of heterogeneity, the Mendelian randomization analysis still yielded significant results. This study employed Mendelian randomization to establish a positive association between smoking levels and the risk of thoracic aortic aneurysm. The genetic evidence reveals a causal relationship between the two, offering new insights for future interventions targeting thoracic aortic aneurysms.


Asunto(s)
Aneurisma de la Aorta Torácica , Estudio de Asociación del Genoma Completo , Análisis de la Aleatorización Mendeliana , Fumar , Humanos , Aneurisma de la Aorta Torácica/genética , Aneurisma de la Aorta Torácica/epidemiología , Aneurisma de la Aorta Torácica/etiología , Fumar/efectos adversos , Fumar/epidemiología , Factores de Riesgo , Oportunidad Relativa
4.
J Am Heart Assoc ; 13(18): e034496, 2024 Sep 17.
Artículo en Inglés | MEDLINE | ID: mdl-39248260

RESUMEN

BACKGROUND: Postoperative computed tomography imaging surveillance is an essential component of care after acute type A aortic dissection (ATAAD) repair. Prognostic imaging factors after ATAAD repair have not been systematically reviewed. METHODS AND RESULTS: We performed a systematic review to summarize postoperative computed tomography measurements including aortic diameter, cross-sectional area, volume, growth rate, and false lumen thrombosis in addition mid- to long-term clinical outcomes after ATAAD repair. Searches were conducted in Medline, Embase, and CENTRAL in October 2022. Studies were included if they reported clinical outcomes such as mortality or aortic reintervention after 1 year and included aforementioned computed tomography findings. Studies of chronic aortic dissection and studies of exclusive patient populations such as those with connective tissue diseases were excluded. Risk of bias was assessed with the Newcastle-Ottawa Scale. Searches retrieved 6999 articles. Sixty-eight studies met inclusion criteria (7885 patients). Extended repairs were associated with improved false lumen thrombosis, decreased aortic growth rate, and decreased rates of reintervention but not improved survival. Growth rates of the aorta post-ATAAD repair were highest in the descending thoracic aorta. The most frequent prognostic imaging factors reported were a patent/partially thrombosed false lumen and postoperative aortic diameter >40 to 45 mm. CONCLUSIONS: Established measurements of positive aortic remodeling, including complete false lumen thrombosis and stabilization of postoperative aortic diameter and growth are the most studied prognostic indicators for improved clinical outcomes after ATAAD repair. Growth rate of the aorta remains significant after ATAAD repair. Future studies should prospectively evaluate and compare prognostic factors for improved surveillance and management.


Asunto(s)
Disección Aórtica , Humanos , Disección Aórtica/cirugía , Disección Aórtica/diagnóstico por imagen , Enfermedad Aguda , Resultado del Tratamiento , Aneurisma de la Aorta Torácica/cirugía , Aneurisma de la Aorta Torácica/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Angiografía por Tomografía Computarizada , Pronóstico , Aorta Torácica/diagnóstico por imagen , Aorta Torácica/cirugía , Implantación de Prótesis Vascular/efectos adversos , Aneurisma de la Aorta/cirugía , Aneurisma de la Aorta/diagnóstico por imagen
5.
J Coll Physicians Surg Pak ; 34(9): 1122-1126, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39262017

RESUMEN

Fenestrated and branched endovascular aortic aneurysm repair (f-EVAR, b-EVAR, respectively) are technically challenging procedures that have evolved over the last decade for complex aortic aneurysms. They are alternatives to surgical repair for suprarenal and juxtarenal aortic aneurysms. A Pubmed database was reviewed by searching keywords related to f-EVAR, b-EVAR, and juxta renal abdominal aortic aneurysm (AAA) from the last five years to see current indications, contemporary techniques, and results of these techniques for juxtarenal aneurysms. Over the years, f-EVAR and b-EVAR have improved, with high technical success (>95%) and mortality rates of 1-5% for pararenal and 5-10% for thoracoabdominal aortic aneurysms. Key Words: Fenestrated-branched endovascular repair, Fenestrated EVAR, Branched EVAR, Juxtarenal aortic aneurysm.


Asunto(s)
Aneurisma de la Aorta Abdominal , Implantación de Prótesis Vascular , Procedimientos Endovasculares , Humanos , Procedimientos Endovasculares/métodos , Aneurisma de la Aorta Abdominal/cirugía , Implantación de Prótesis Vascular/métodos , Resultado del Tratamiento , Prótesis Vascular , Stents , Aneurisma de la Aorta Torácica/cirugía
6.
J Cardiothorac Surg ; 19(1): 528, 2024 Sep 13.
Artículo en Inglés | MEDLINE | ID: mdl-39272203

RESUMEN

BACKGROUND: It is challenging to simultaneously conduct total endovascular repair and reconstruct the left subclavian artery (LSA) and isolated left vertebral artery (ILVA) in patients who had an ILVA and required zone 2 anchoring. This pilot study reported the initial application experience of thoracic endovascular aortic repair (TEVAR) with a proximal zone 2 landing for aortic arch reconstruction in patients with ILVA. METHODS: This study was a retrospective consecutive single-center case series analysis, which involved four patients with ILVA who required zone 2 anchoring and received TEVAR combined with a single-branched stent graft and concomitant on-table fenestration between March 2021 and December 2022. RESULTS: The postoperative follow-up period was 6-27 months, and no postoperative deaths or other primary complications occurred. There were no signs of a stroke or spinal cord ischemia, as well as no chest or back pain. The postoperative computed tomography angiography showed unobstructed ILVA and LSA, no stent stenosis and displacement, and no signs of endoleak. CONCLUSION: The outcome suggested that this technique might be a feasible, safe, and alternative treatment for such patients. Further studies with larger samples and longer follow-up periods are needed to confirm our findings.


Asunto(s)
Aorta Torácica , Procedimientos Endovasculares , Stents , Arteria Vertebral , Humanos , Proyectos Piloto , Masculino , Procedimientos Endovasculares/métodos , Estudios Retrospectivos , Femenino , Anciano , Persona de Mediana Edad , Aorta Torácica/cirugía , Aorta Torácica/diagnóstico por imagen , Arteria Vertebral/cirugía , Aneurisma de la Aorta Torácica/cirugía , Diseño de Prótesis , Implantación de Prótesis Vascular/métodos , Implantación de Prótesis Vascular/instrumentación , Prótesis Vascular , Arteria Subclavia/cirugía , Angiografía por Tomografía Computarizada , Resultado del Tratamiento , Reparación Endovascular de Aneurismas
8.
Br J Surg ; 111(9)2024 Aug 30.
Artículo en Inglés | MEDLINE | ID: mdl-39258491

RESUMEN

BACKGROUND: Surgical intervention for thoracic aortic aneurysms is high risk. Understanding changes in health-related quality of life before and after endovascular stent grafting and open surgical repair can aid treatment decision-making. METHODS: The Effective Treatments for Thoracic Aortic Aneurysms ('ETTAA') study (ISRCTN04044627) was a longitudinal, observational study. Adults with new/existing arch or descending thoracic aortic aneurysms greater than or equal to 4 cm in diameter were followed from 2014 to 2022. Five domains of health-related quality of life (Mobility, Self-Care, Usual Activities, Pain/Discomfort, and Anxiety/Depression) were recorded using the EuroQoL, five dimensions, five levels ('EQ-5D-5L') questionnaire and analysed using a range of longitudinal mixed models. RESULTS: Of 886 thoracic aortic aneurysm participants, 824 completed at least 2 questionnaires. Patients had slightly worse health-related quality of life than age-matched norms. Without surgery, deterioration occurred over time in Mobility (0.072/year (95% c.i. 0.042 to 0.101), P < 0.001) and Self-Care (0.039/year (95% c.i. 0.018 to 0.061), P < 0.001) in both sexes and Pain/Discomfort in women (0.069/year (95% c.i. 0.020 to 0.118), P = 0.005). For 6 weeks after endovascular stent grafting, there was a significant impairment in Self-Care (0.214 (95% c.i. 0.112 to 0.316), P < 0.001) and (for women only) in Usual Activities (0.625 (95% c.i. 0.338 to 0.911), P < 0.001), which then returned to pre-endovascular stent grafting levels. Six weeks after open surgical repair, the impairment in health-related quality of life was greater (Mobility 0.492 (95% c.i. 0.314 to 0.669), Self-Care 0.474 (95% c.i. 0.364 to 0.583), Usual Activities 1.469 (95% c.i. 1.042 to 1.896), and Pain/Discomfort 0.561 (95% c.i. 0.363 to 0.760), all P < 0.001) and took longer to return to pre-open surgical repair levels, partly due to increased complications and longer hospitalization. Anxiety/Depression decreased after open surgical repair (-0.214 (95% c.i. -0.326 to -0.101), P < 0.001). Age, sex, frailty, smoking, New York Heart Association class, and chronic obstructive pulmonary disease were significantly associated with health-related quality of life. CONCLUSION: Without intervention, health-related quality of life declines as age increases. Changes in health-related quality of life should contribute to surgical treatment decision-making.


Asunto(s)
Aneurisma de la Aorta Torácica , Calidad de Vida , Humanos , Masculino , Femenino , Aneurisma de la Aorta Torácica/cirugía , Aneurisma de la Aorta Torácica/psicología , Anciano , Estudios Longitudinales , Persona de Mediana Edad , Procedimientos Endovasculares/métodos , Encuestas y Cuestionarios , Anciano de 80 o más Años
9.
J Cardiothorac Surg ; 19(1): 519, 2024 Sep 09.
Artículo en Inglés | MEDLINE | ID: mdl-39251978

RESUMEN

BACKGROUND: Mega-aortic syndrome including aortic arch and descending aortic aneurysm is a challenging surgical case. Because the aorta continuously dilates, creating the distal anastomosis sites becomes an issue. Despite the developments in endovascular techniques including frozen elephant trunk, in the case of mega-aortic syndrome or mycotic aneurysm, extensive surgical repair is still a strong armamentarium. Our patient had a mega-aorta with chronic aortic dissection. Herein, we show tips regarding concurrent ascending, aortic arch, and descending aortic replacement via posterolateral thoracotomy for this relatively young patient. CASE PRESENTATION: A 46-year-old man with chronic kidney disease had chronic type A aortic dissection with an extensively dilated thoracic aorta from the distal ascending to the descending aorta measuring 63 mm in diameter and abdominal aorta measuring 50 mm. The short segment of the distal descending aorta was narrowed to 36 mm. The patient underwent a concurrent replacement of the distal ascending aorta, aortic arch, and descending aorta via a posterolateral thoracotomy. The patient was extubated on postoperative day (POD) 1 and discharged home without serious complications such as stroke, respiratory failure, or renal failure on POD 18. The 1-year follow-up computed tomography did not find issues in the anastomosis sites; however, the abdominal aorta enlarged from 50 to 58 mm. The patient underwent a thoracoabdominal aortic replacement and recovered well without any complications. CONCLUSIONS: Good exposure and meticulous organ protection methods are key to a safe concurrent replacement of the ascending, aortic arch, and descending aorta via posterolateral thoracotomy.


Asunto(s)
Aorta Torácica , Aneurisma de la Aorta Torácica , Disección Aórtica , Implantación de Prótesis Vascular , Toracotomía , Humanos , Masculino , Persona de Mediana Edad , Disección Aórtica/cirugía , Disección Aórtica/complicaciones , Toracotomía/métodos , Aorta Torácica/cirugía , Aorta Torácica/diagnóstico por imagen , Aneurisma de la Aorta Torácica/cirugía , Aneurisma de la Aorta Torácica/complicaciones , Implantación de Prótesis Vascular/métodos , Tomografía Computarizada por Rayos X , Enfermedad Crónica
10.
J Cardiothorac Surg ; 19(1): 521, 2024 Sep 09.
Artículo en Inglés | MEDLINE | ID: mdl-39252031

RESUMEN

BACKGROUND: Selective antegrade cerebral perfusion (sACP) is a crucial cerebral protection technique employed during aortic dissection surgeries involving cardiopulmonary bypass. However, postoperative neurological complications, particularly those related to cannulation issues and perfusion problems, remain a significant concern. CASE PRESENTATION: This case report details an unusual instance where a 38-year-old male patient with Marfan syndrome experienced cerebral hypoperfusion during emergency surgery for Stanford Type A aortic dissection. Despite following standard protocols, a significant drop in regional cerebral oxygen saturation (rSO2) and abnormal blood pressure fluctuations were observed shortly after initiating sACP via the innominate artery. After initial attempts to optimize perfusion flow proved ineffective, the cannulation position was adjusted, leading to improvements. Nevertheless, the patient subsequently exhibited signs of cerebral hypoperfusion and was found to have suffered a new cerebral infarction. CONCLUSIONS: This case report underscores the importance of precise cannula placement during sACP procedures and the dire consequences that can arise from improper positioning. It emphasizes the need for continuous monitoring and prompt intervention in cases of abnormal cerebral oxygenation and blood pressure, as well as the value of considering cannulation-related issues as potential causes of postoperative neurological complications.


Asunto(s)
Disección Aórtica , Humanos , Masculino , Adulto , Disección Aórtica/cirugía , Cateterismo/métodos , Circulación Cerebrovascular/fisiología , Aneurisma de la Aorta Torácica/cirugía , Aneurisma de la Aorta/cirugía , Puente Cardiopulmonar/métodos , Puente Cardiopulmonar/efectos adversos , Síndrome de Marfan/complicaciones
11.
J Cardiothorac Surg ; 19(1): 514, 2024 Sep 05.
Artículo en Inglés | MEDLINE | ID: mdl-39238045

RESUMEN

BACKGROUND: Type A acute aortic dissection (TAAAD) is a deadly condition that demands immediate surgery, because it involves a critically. The mortality and morbidity associated with it are significant, and it is vital that the patient's conditions and treatment strategies are fully understood to ensure the appropriate management of TAAAD. This study aims to ascertain whether hemiarch repair (HAR) versus extended arch repair (EAR) with or without descending aortic intervention results in better perioperative and late outcomes for patients with TAAAD. METHODS: Four leading centers of cardiac surgery from two European countries have joined forces to create a groundbreaking multicenter observational registry (AoArch). This study was approved by the institutional review board (IRB 202201173). We conducted a retrospective review (NCT00591263) of our prospectively maintained database for patients who underwent operative repair of DeBakey type I or type II dissection from January 1, 2005 to March 2024 (NCT05927090). We will analyze how patient co-morbidities, referral conditions, and surgical strategies involving hemi-arch repair (HAR) and extended arch repair (EAR) impact early and late adverse events. We have developed a procedure urgency algorithm based on the severity of preoperative hemodynamic conditions and malperfusion due to TAAAD, and we will use it to assess the primary clinical outcomes: in-hospital mortality, late mortality, and reoperations on the aorta. We will define secondary outcomes as permanent neurologic deficit, the need for new dialysis, respiratory failure, a composite of major adverse events (myocardial infarction, cerebrovascular accidents, the need for dialysis, or the need for tracheostomy), and a composite of major adverse pulmonary events (intubation over 48 h, pneumonia, reintubation, tracheostomy), and reoperation due to bleeding. DISCUSSION: This multicenter registry will definitively determine the prognostic significance of critical preoperative conditions and the efficacy of extended arch interventions and hemiarch repair in reducing the risk of early adverse events after surgery for TAAAD. This registry will provide insights into the long-term durability of different strategies of surgical repair for TAAAD.


Asunto(s)
Aorta Torácica , Aneurisma de la Aorta Torácica , Disección Aórtica , Sistema de Registros , Humanos , Disección Aórtica/cirugía , Aneurisma de la Aorta Torácica/cirugía , Aneurisma de la Aorta Torácica/mortalidad , Estudios Retrospectivos , Aorta Torácica/cirugía , Mortalidad Hospitalaria , Masculino , Femenino , Complicaciones Posoperatorias/epidemiología , Persona de Mediana Edad
12.
Artículo en Inglés | MEDLINE | ID: mdl-39248719

RESUMEN

Presenting this video tutorial, we want to demonstrate a step-by-step surgical approach to acute intramural haematoma of the thoracic aorta without a definite entry tear. Limited by the aortic valve proximally, the intramural haematoma involved the aortic root, ascending aorta, aortic arch, including adjacent parts of supra-aortic branches, and descending aorta extending to the diaphragmatic level. The operative strategy involved urgent total aortic arch replacement with the frozen elephant trunk technique and anatomical reimplantation of the three supra-aortic vessels. The direct open over-the-wire technique was used to cannulate the right axillary artery, and standard venous cannulation was performed while brain protection was achieved with bilateral selective antegrade cerebral perfusion.


Asunto(s)
Aorta Torácica , Implantación de Prótesis Vascular , Hematoma , Humanos , Aorta Torácica/cirugía , Hematoma/cirugía , Hematoma/etiología , Hematoma/diagnóstico , Implantación de Prótesis Vascular/métodos , Masculino , Prótesis Vascular , Enfermedades de la Aorta/cirugía , Enfermedades de la Aorta/diagnóstico , Femenino , Persona de Mediana Edad , Anciano , Aneurisma de la Aorta Torácica/cirugía , Aneurisma de la Aorta Torácica/diagnóstico
13.
Artículo en Inglés | MEDLINE | ID: mdl-39219482

RESUMEN

The definitive management of combined aortic arch and descending aortic pathologies such as aneurysms and dissections is either a single or staged operation associated with high morbidity and mortality. Stroke, kidney dysfunction, coagulopathy and high blood transfusion requirements are all affiliated with hypothermic circulatory arrest and prolonged cardiopulmonary bypass times. Considering the perilous nature of these operations, the authors describe a step-by-step zone 2 arch replacement as a staged frozen elephant trunk procedure, which provides an adequate landing zone for a later-placed endovascular stent yet maintains a short cardiopulmonary bypass time and no circulatory arrest.


Asunto(s)
Aorta Torácica , Aneurisma de la Aorta Torácica , Disección Aórtica , Implantación de Prótesis Vascular , Humanos , Aorta Torácica/cirugía , Aneurisma de la Aorta Torácica/cirugía , Implantación de Prótesis Vascular/métodos , Implantación de Prótesis Vascular/efectos adversos , Disección Aórtica/cirugía , Procedimientos Endovasculares/métodos , Masculino , Stents , Puente Cardiopulmonar/métodos , Prótesis Vascular , Femenino , Persona de Mediana Edad
14.
J Cardiothorac Surg ; 19(1): 496, 2024 Aug 28.
Artículo en Inglés | MEDLINE | ID: mdl-39192301

RESUMEN

BACKGROUND: The aim of this study is to explore the clinical value of computed tomography angiography (CTA) in the diagnosis of aortic aneurysm. METHODS: The imaging data of 60 patients suspected of having aortic aneurysms who were examined in the Radiology Department of the First Affiliated Hospital of Nanjing Medical University from April 2017 to April 2020 were analyzed retrospectively. CTA and digital subtraction angiography (DSA) were used to examine the patients, and CTA image findings were collected and compared with DSA findings. RESULTS: There was no significant difference in the accuracy of diagnosing aortic aneurysms (P > 0.05) between DSA [98.33% (59/60)] and CTA [95.00% (57/60)]. There was no significant difference in the diagnosis of image features (e.g., typing, site, form) of aortic aneurysms (P > 0.05). CONCLUSION: CTA can be used to successfully confirm if patients suffer from an aortic aneurysm; it produces quality images with high specificity, sensitivity, and accuracy and can be promoted in clinical practice.


Asunto(s)
Angiografía de Substracción Digital , Aneurisma de la Aorta , Angiografía por Tomografía Computarizada , Humanos , Angiografía por Tomografía Computarizada/métodos , Masculino , Femenino , Estudios Retrospectivos , Persona de Mediana Edad , Anciano , Aneurisma de la Aorta/diagnóstico por imagen , Angiografía de Substracción Digital/métodos , Adulto , Aneurisma de la Aorta Torácica/diagnóstico por imagen , Aneurisma de la Aorta Torácica/diagnóstico , Sensibilidad y Especificidad , Reproducibilidad de los Resultados
15.
Int J Mol Sci ; 25(15)2024 Jul 30.
Artículo en Inglés | MEDLINE | ID: mdl-39125885

RESUMEN

Nonsyndromic sporadic thoracic aortic aneurysm (nssTAA) is characterized by diverse genetic variants that may vary in different populations. Our aim was to identify clinically relevant variants in genes implicated in hereditary aneurysms in Russian patients with nssTAA. Forty-one patients with nssTAA without dissection were analyzed. Using massive parallel sequencing, we searched for variants in exons of 53 known disease-causing genes. Patients were found to have no (likely) pathogenic variants in the genes of hereditary TAA. Six variants of uncertain significance (VUSs) were identified in four (9.8%) patients. Three VUSs [FBN1 c.7841C>T (p.Ala2614Val), COL3A1 c.2498A>T (p.Lys833Ile), and MYH11 c.4993C>T (p.Arg1665Cys)] are located in genes with "definitive" disease association (ClinGen). The remaining variants are in "potentially diagnostic" genes or genes with experimental evidence of disease association [NOTCH1 c.964G>A (p.Val322Met), COL4A5 c.953C>G (p.Pro318Arg), and PLOD3 c.833G>A (p.Gly278Asp)]. Russian patients with nssTAA without dissection examined in this study have ≥1 VUSs in six known genes of hereditary TAA (FBN1, COL3A1, MYH11, NOTCH1, COL4A5, or PLOD3). Experimental studies expanded genetic testing, and clinical examination of patients and first/second-degree relatives may shift VUSs to the pathogenic (benign) category or to a new class of rare "predisposing" low-penetrance variants causing the pathology if combined with other risk factors.


Asunto(s)
Aneurisma de la Aorta Torácica , Predisposición Genética a la Enfermedad , Humanos , Femenino , Masculino , Federación de Rusia/epidemiología , Aneurisma de la Aorta Torácica/genética , Persona de Mediana Edad , Adulto , Cadenas Pesadas de Miosina/genética , Fibrilina-1/genética , Colágeno Tipo III/genética , Anciano , Miosinas Cardíacas/genética , Secuenciación de Nucleótidos de Alto Rendimiento , Mutación , Variación Genética , Adipoquinas
16.
BMC Cardiovasc Disord ; 24(1): 417, 2024 Aug 10.
Artículo en Inglés | MEDLINE | ID: mdl-39127656

RESUMEN

Mutations in fibrillin 1 (FBN1) is the main cause of Marfan syndrome (MFS) with thoracic aortic aneurysm (TAA) as the main complication. Activation of the complement system plays a key role in the formation of thoracic and abdominal aortic aneurysms. However, the role of the complement system in MFS-associated aortic aneurysms remains unclear. In this study, we observed increased levels of complement C3a and C5a in the plasma of MFS patients and mouse, and the increased deposition of the activated complement system product C3b/iC3b was also observed in the elastic fiber rupture zone of 3-month-old MFS mice. The expression of C3a receptor (C3aR) was increased in MFS aortas, and recombinant C3a promoted the expression of cytokines in macrophages. The administration of a C3aR antagonist (C3aRA) attenuated the development of thoracic aortic aneurysms in MFS mice. The increased inflammation response and matrix metalloproteinases activities were also attenuated by C3aRA treatment in MFS mice. Therefore, these findings indicate that the complement C3a/C3aR inhibition alleviates the formation of aortic aneurysm in Marfan syndrome mice.


Asunto(s)
Adipoquinas , Aneurisma de la Aorta Torácica , Complemento C3a , Fibrilina-1 , Síndrome de Marfan , Receptores de Complemento , Animales , Femenino , Humanos , Masculino , Ratones , Adipoquinas/genética , Aorta Torácica/patología , Aneurisma de la Aorta Torácica/prevención & control , Aneurisma de la Aorta Torácica/etiología , Aneurisma de la Aorta Torácica/metabolismo , Aneurisma de la Aorta Torácica/patología , Complemento C3a/antagonistas & inhibidores , Complemento C3a/metabolismo , Citocinas/metabolismo , Modelos Animales de Enfermedad , Fibrilina-1/genética , Mediadores de Inflamación/metabolismo , Macrófagos/metabolismo , Macrófagos/efectos de los fármacos , Síndrome de Marfan/complicaciones , Síndrome de Marfan/genética , Síndrome de Marfan/tratamiento farmacológico , Ratones Endogámicos C57BL , Receptores de Complemento/antagonistas & inhibidores , Receptores Acoplados a Proteínas G , Transducción de Señal
18.
Am J Case Rep ; 25: e944262, 2024 Aug 12.
Artículo en Inglés | MEDLINE | ID: mdl-39129224

RESUMEN

BACKGROUND Ortner syndrome, or cardiovocal syndrome, is a left recurrent laryngeal nerve palsy secondary to cardiovascular causes. Aortic pseudoaneurysm is a rare life-threatening condition resulting from weakening of the aortic wall. Clinical presentation of aortic pseudoaneurysm is highly variable. Hoarseness is often caused by benign conditions; however, it can be the first symptom of an underlying serious condition requiring immediate diagnosis and management. CASE REPORT We report a series of 2 patients with sudden hoarseness as the first symptom of an aortic arch pseudoaneurysm. Two men, with ages of 76 and 60 years, had sudden hoarseness a few weeks before. Laryngoscopy showed a left vocal cord palsy in both cases. A computed tomography (CT) scan showed a thoracic aortic pseudoaneurysm located at the aortic arch compressing the left recurrent laryngeal nerve. Both patients were treated with endovascular aortic repair. The first patient underwent a carotid-subclavian artery bypass, and the left subclavian artery was closed with a vascular plug device. He was discharged a week later, with persistent hoarseness. In the second case, subclavian artery occlusion and pseudoaneurysm embolization with coils were performed. Control CT scan confirmed the procedure's success. However, after an initial favorable evolution, the patient had severe non-vascular complications and finally died. CONCLUSIONS Considering these 2 cases and those reported in the literature, aortic origin should be considered in the differential diagnosis of hoarseness, particularly when it appears suddenly. Thoracic endovascular aortic repair is a feasible option for those patients with penetrating aortic ulcer or pseudoaneurysm located in the aortic arch.


Asunto(s)
Aneurisma Falso , Ronquera , Parálisis de los Pliegues Vocales , Humanos , Masculino , Ronquera/etiología , Aneurisma Falso/terapia , Aneurisma Falso/complicaciones , Aneurisma Falso/diagnóstico por imagen , Parálisis de los Pliegues Vocales/etiología , Parálisis de los Pliegues Vocales/diagnóstico , Anciano , Persona de Mediana Edad , Aneurisma de la Aorta Torácica/complicaciones , Aneurisma de la Aorta Torácica/diagnóstico , Tomografía Computarizada por Rayos X , Aorta Torácica/diagnóstico por imagen
19.
Eur J Cardiothorac Surg ; 66(2)2024 Aug 02.
Artículo en Inglés | MEDLINE | ID: mdl-39137134

RESUMEN

OBJECTIVES: The optimal core temperature for hypothermic circulatory arrest during aortic arch surgery remains contentious. This study aims to evaluate patient outcomes under various temperatures within a large single-centre cohort. METHODS: Between 2010 and 2018, patients diagnosed with type A aortic dissection underwent total arch replacement at Fuwai Hospital were enrolled. They were categorized into 4 groups: deep hypothermia group, low-moderate hypothermia group, high-moderate hypothermia group and mild hypothermia group. Clinical data were analysed to ascertain differences between the groups. RESULTS: A total of 1310 patients were included in this cohort. Operative mortality stood at 6.9% (90/1310), with a higher incidence observed in the deep hypothermia group [29 (12.9%); 35 (6.9%); 21 (4.8%); 5 (3.4%); all adjusted P < 0.05]. Overall 10-year survival was 80.3%. Long-term outcomes did not significantly differ among the groups. Multivariable logistic analysis revealed a protective effect of higher core temperature on operative mortality (odds ratio 0.848, 95% confidence interval 0.766-0.939; P = 0.001). High-moderate hypothermia emerged as an independent protective factor for operative mortality (odds ratio 0.303, 95% confidence interval 0.126-0.727; P = 0.007). Multivariable Cox analysis did not detect an effect of hypothermic circulatory arrest on long-term survival (all P > 0.05). CONCLUSIONS: High-moderate hypothermia (24.1-28°C) offers the most effective protection against surgical mortality and is therefore recommended. Different hypothermic circulatory arrest temperatures do not influence long-term survival or quality of life.


Asunto(s)
Aorta Torácica , Disección Aórtica , Humanos , Femenino , Masculino , Persona de Mediana Edad , Aorta Torácica/cirugía , Disección Aórtica/cirugía , Disección Aórtica/mortalidad , Estudios Retrospectivos , Temperatura Corporal/fisiología , Paro Circulatorio Inducido por Hipotermia Profunda/métodos , Paro Circulatorio Inducido por Hipotermia Profunda/efectos adversos , Anciano , Hipotermia Inducida/métodos , Aneurisma de la Aorta Torácica/cirugía , Aneurisma de la Aorta Torácica/mortalidad , Resultado del Tratamiento , Adulto
20.
Cells ; 13(15)2024 Jul 25.
Artículo en Inglés | MEDLINE | ID: mdl-39120283

RESUMEN

Thoracic aortic aneurysms (TAAs) represent a serious health concern, as they are associated with early aortic dissection and rupture. TAA formation is triggered by genetic conditions, in particular Marfan syndrome (MFS) and bicuspid aortic valve (BAV). During the aneurysmatic process, aortic endothelial cells can undergo endothelial-to-mesenchymal transition (End-MT) with consequent phenotypic and functional alterations. We previously documented that MFS TAA is characterized by miR-632-driven End-MT exacerbation, whereas in BAV aortopathy, the occurrence of this process remains still controversial. We investigated the End-MT process and the underlined regulatory mechanisms in BAV, TAV and MFS TAA tissues. Gene expression and immunohistochemical analysis were performed in order to analyze some important miRNAs and genes characterizing End-MT. We documented that BAV endothelium maintains the expression of the endothelial homeostasis markers, such as ERG, CD31 and miR-126-5p, while it shows lower levels of miR-632 and mesenchymal markers compared with MFS. Interestingly, we also found higher levels of miR-632 in MFS patients' blood. Our findings definitively demonstrate that the End-MT process does not characterize BAV that, among the other TAAs, better maintains the endothelial features. In addition, our results suggest miR-632 as a promising diagnostic/prognostic factor in MFS aortopathy.


Asunto(s)
Aneurisma de la Aorta Torácica , Transición Epitelial-Mesenquimal , MicroARNs , Humanos , MicroARNs/genética , MicroARNs/metabolismo , Aneurisma de la Aorta Torácica/genética , Aneurisma de la Aorta Torácica/patología , Aneurisma de la Aorta Torácica/metabolismo , Transición Epitelial-Mesenquimal/genética , Masculino , Femenino , Persona de Mediana Edad , Células Endoteliales/metabolismo , Células Endoteliales/patología , Regulador Transcripcional ERG/metabolismo , Regulador Transcripcional ERG/genética , Enfermedad de la Válvula Aórtica Bicúspide/metabolismo , Enfermedad de la Válvula Aórtica Bicúspide/patología , Enfermedad de la Válvula Aórtica Bicúspide/genética , Anciano , Molécula-1 de Adhesión Celular Endotelial de Plaqueta/metabolismo , Adulto , Regulación de la Expresión Génica , Síndrome de Marfan/genética , Síndrome de Marfan/patología , Síndrome de Marfan/metabolismo
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