Multifocal disease progression and subsequent intervention in patients with actin alpha-2 variants: A single-center experience

IF 4.9 1区医学 Q1 CARDIAC & CARDIOVASCULAR SYSTEMS

Journal of Thoracic and Cardiovascular Surgery Pub Date : 2024-12-01 DOI:10.1016/j.jtcvs.2023.11.052

Jean-Luc A. Maigrot BS , Patrick R. Vargo MD , Benjamin Kramer DO, MS , Christina Rigelsky MS , Joanna Ghobrial MD , Kenneth Zahka MD , Hani Najm MD , Eric E. Roselli MD

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引用次数: 0

Abstract

Objectives

To describe patient characteristics and indications for surgical intervention, reoperation, and outcomes in patients with actin alpha-2 (ACTA2) variants.

Methods

A single-center retrospective cohort study with prospective follow-up was performed for 38 patients with an ACTA2 variant.

Results

From 1999 to 2020, 26 (70%) patients underwent surgery; 11 remain under surveillance (mean follow-up, 7.5 ± 5 years). Median age at index operation was 42 (range, 10-69) years, with 4 pediatric cases. Thoracic aortic aneurysm was present in 19 (73%) patients (mean adult max diameter, 5.2 ± 0.8 cm; pediatric z score, 10.7 ± 5.4). Aortic dissection was present in 13 (50%) patients, with 4 (15%) having type A dissection. Operations included replacement of the aortic root in 16 (17%), ascending aorta in 20 (77%), and aortic arch in 14 (54%) patients. Four (15%) patients had coronary artery disease, and 2 (7.7%) underwent concomitant coronary artery bypass grafting. There was no operative mortality, stroke, reoperation for bleeding, or dialysis-dependent renal failure; One (3.8%) patient developed acute on chronic kidney injury. Three patients (12%) required prolonged ventilation. Eleven (42%) patients underwent 26 reoperations, median time 45 (range, 4-147) months, including 5 open thoracoabdominal aneurysm repairs.

Conclusions

Patients with ACTA2 variants frequently develop aortic aneurysm and are at risk of aortic dissection and coronary artery disease. However, age at diagnosis and symptoms at presentation are highly variable. Multiple operations are often required for disease management, particularly after dissection. Close monitoring and timely intervention are important in mitigating disease progression and improving outcomes.

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肌动蛋白α-2变异体患者的多灶性疾病进展和后续干预；单中心经验

目的描述肌动蛋白α-2（ACTA2）变异体患者的特征、手术干预指征、再次手术和预后。方法对38例ACTA2变异体患者进行前瞻性随访的单中心回顾性队列研究。手术年龄中位数为 42 岁（10-69 岁），其中 4 例为儿童。19例（73%）患者存在胸主动脉瘤（成人最大直径平均为5.2 ± 0.8厘米，儿童z-score为10.7 ± 5.4）。13例（50%）患者存在主动脉夹层，其中4例（15%）为A型夹层。手术包括更换主动脉根部 16 例（17%）、升主动脉 20 例（77%）和主动脉弓 14 例（54%）。4名患者（15%）患有冠状动脉疾病（CAD），2名患者（7.7%）同时接受了冠状动脉旁路移植手术。手术中没有出现死亡、中风、因出血再次手术或透析依赖性肾衰竭；1 名患者（3.8%）出现急性慢性肾损伤。三名患者（12%）需要延长通气时间。11名患者（42%）接受了26次再手术，中位时间为45个月（4-147个月），其中包括5次开胸腹部动脉瘤修补术。然而，确诊时的年龄和发病时的症状差异很大。通常需要多次手术才能控制病情，尤其是在夹层发生后。密切监测和及时干预对于缓解疾病进展和改善预后非常重要。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Thoracic and Cardiovascular Surgery 医学-呼吸系统

CiteScore

11.20

自引率

10.00%

发文量

1079

审稿时长

68 days

期刊介绍： The Journal of Thoracic and Cardiovascular Surgery presents original, peer-reviewed articles on diseases of the heart, great vessels, lungs and thorax with emphasis on surgical interventions. An official publication of The American Association for Thoracic Surgery and The Western Thoracic Surgical Association, the Journal focuses on techniques and developments in acquired cardiac surgery, congenital cardiac repair, thoracic procedures, heart and lung transplantation, mechanical circulatory support and other procedures.