PDF(Pubmed)
Abstract：
BACKGROUND: Marfan Syndrome is an autosomal dominant disease caused by pathogenetic variants in the FBN1 gene. The progressive dilatation of the aorta and the potential risk of acute aortic syndromes influence the prognosis of these patients. We aim to describe population characteristics, long-term survival, and re-intervention patterns in patients who underwent aortic surgery with a previously confirmed clinical diagnosis of Marfan Syndrome in a middle-income country.
METHODS: A retrospective single-center case series study was conducted. All Marfan Syndrome patients who underwent aortic procedures from 2004 until 2021 were included. Qualitative variables were frequency-presented, while quantitative ones adopted mean ± standard deviation. A subgroup analysis between elective and emergent procedures was conducted. Kaplan-Meier plots depicted cumulative survival and re-intervention-free. Control appointments and government data tracked out-of-hospital mortality.
RESULTS: Fifty patients were identified. The mean age was 38.79 ± 14.41 years, with a male-to-female ratio of 2:1. Common comorbidities included aortic valve regurgitation (66%) and hypertension (50%). Aortic aneurysms were observed in 64% without dissection and 36% with dissection. Surgical procedures comprised elective (52%) and emergent cases (48%). The most common surgery performed was the David procedure (64%), and the Bentall procedure (14%). The in-hospital mortality rate was 4%. Complications included stroke (10%), and acute kidney injury (6%). The average follow-up was 8.88 ± 5.78 years. Survival rates at 5, 10, and 15 years were 89%, 73%, and 68%, respectively. Reintervention rates at 1, 2.5, and 5 years were 10%, 14%, and 17%, respectively. The emergent subgroup was younger (37.58 ± 14.49 years), had the largest number of Stanford A aortic dissections, presented hemodynamic instability (41.67%), and had a higher requirement of reinterventions in the first 5 years of follow-up (p = 0.030).
CONCLUSIONS: In our study, surveillance programs played a pivotal role in sustaining high survival rates and identifying re-intervention requirements. However, challenges persist, as 48% of the patients required emergent surgery. Despite not affecting survival rates, a greater requirement for reinterventions was observed, emphasizing the necessity of timely diagnosis. Enhanced educational initiatives for healthcare providers and increased patient involvement in follow-up programs are imperative to address these concerns.
METHODS: A retrospective single-center case series study was conducted. All Marfan Syndrome patients who underwent aortic procedures from 2004 until 2021 were included. Qualitative variables were frequency-presented, while quantitative ones adopted mean ± standard deviation. A subgroup analysis between elective and emergent procedures was conducted. Kaplan-Meier plots depicted cumulative survival and re-intervention-free. Control appointments and government data tracked out-of-hospital mortality.
RESULTS: Fifty patients were identified. The mean age was 38.79 ± 14.41 years, with a male-to-female ratio of 2:1. Common comorbidities included aortic valve regurgitation (66%) and hypertension (50%). Aortic aneurysms were observed in 64% without dissection and 36% with dissection. Surgical procedures comprised elective (52%) and emergent cases (48%). The most common surgery performed was the David procedure (64%), and the Bentall procedure (14%). The in-hospital mortality rate was 4%. Complications included stroke (10%), and acute kidney injury (6%). The average follow-up was 8.88 ± 5.78 years. Survival rates at 5, 10, and 15 years were 89%, 73%, and 68%, respectively. Reintervention rates at 1, 2.5, and 5 years were 10%, 14%, and 17%, respectively. The emergent subgroup was younger (37.58 ± 14.49 years), had the largest number of Stanford A aortic dissections, presented hemodynamic instability (41.67%), and had a higher requirement of reinterventions in the first 5 years of follow-up (p = 0.030).
CONCLUSIONS: In our study, surveillance programs played a pivotal role in sustaining high survival rates and identifying re-intervention requirements. However, challenges persist, as 48% of the patients required emergent surgery. Despite not affecting survival rates, a greater requirement for reinterventions was observed, emphasizing the necessity of timely diagnosis. Enhanced educational initiatives for healthcare providers and increased patient involvement in follow-up programs are imperative to address these concerns.
摘要：
背景：马凡综合征是一种由FBN1基因的致病变异引起的常染色体显性疾病。主动脉的进行性扩张和急性主动脉综合征的潜在风险影响这些患者的预后。我们的目标是描述人口特征，长期生存,以及在中等收入国家接受主动脉手术且先前已确认临床诊断为Marfan综合征的患者的再干预模式。
方法：进行回顾性单中心病例系列研究。包括从2004年到2021年接受主动脉手术的所有马凡氏综合症患者。定性变量是频率表示的，而定量采用平均值±标准偏差。进行了选择性程序和紧急程序之间的亚组分析。Kaplan-Meier图描绘了累积生存率和无再干预。控制预约和政府数据追踪院外死亡率。
结果：确定了50例患者。平均年龄38.79±14.41岁,男女比例为2:1。常见的合并症包括主动脉瓣反流（66％）和高血压（50％）。64％无夹层，36％有夹层。外科手术包括选择性（52％）和紧急病例（48％）。最常见的手术是David手术（64％），和Bentall程序（14％）。住院死亡率为4%。并发症包括中风（10％），和急性肾损伤（6％）。平均随访8.88±5.78年。5年、10年和15年生存率分别为89%。73%,68%,分别。1年、2.5年和5年的再干预率为10%，14%,17%,分别。新兴亚组年龄较小（37.58±14.49岁），斯坦福A型主动脉夹层最多，表现为血流动力学不稳定（41.67%），在随访的前5年对再干预的要求较高(p=0.030)。
结论：在我们的研究中，监测方案在维持高生存率和确定再干预要求方面发挥了关键作用.然而,挑战依然存在,因为48%的患者需要紧急手术。尽管不影响生存率，观察到对再干预的更大需求，强调及时诊断的必要性。为了解决这些问题，必须加强对医疗保健提供者的教育计划和增加患者对后续计划的参与。
方法：进行回顾性单中心病例系列研究。包括从2004年到2021年接受主动脉手术的所有马凡氏综合症患者。定性变量是频率表示的，而定量采用平均值±标准偏差。进行了选择性程序和紧急程序之间的亚组分析。Kaplan-Meier图描绘了累积生存率和无再干预。控制预约和政府数据追踪院外死亡率。
结果：确定了50例患者。平均年龄38.79±14.41岁,男女比例为2:1。常见的合并症包括主动脉瓣反流（66％）和高血压（50％）。64％无夹层，36％有夹层。外科手术包括选择性（52％）和紧急病例（48％）。最常见的手术是David手术（64％），和Bentall程序（14％）。住院死亡率为4%。并发症包括中风（10％），和急性肾损伤（6％）。平均随访8.88±5.78年。5年、10年和15年生存率分别为89%。73%,68%,分别。1年、2.5年和5年的再干预率为10%，14%,17%,分别。新兴亚组年龄较小（37.58±14.49岁），斯坦福A型主动脉夹层最多，表现为血流动力学不稳定（41.67%），在随访的前5年对再干预的要求较高(p=0.030)。
结论：在我们的研究中，监测方案在维持高生存率和确定再干预要求方面发挥了关键作用.然而,挑战依然存在,因为48%的患者需要紧急手术。尽管不影响生存率，观察到对再干预的更大需求，强调及时诊断的必要性。为了解决这些问题，必须加强对医疗保健提供者的教育计划和增加患者对后续计划的参与。
