Surgical Interventions and Follow-up for Marfan Syndrome Aortic Disease: A Latin American Center Experience

Marfan syndrome (MFS) is an autosomal dominant disease caused by pathogenetic variants in the FBN1 gene, which encodes fibrillin-1. The underlying progressive dilatation of the aorta and the potential risk of acute aortic syndromes highly influence the prognosis of patients with this syndrome. Surgical correction is frequently needed, requiring multiple reinterventions with high mortality rates. Because of the low prevalence of MFS in Colombia (1.78%), evidence regarding adequate treatment remains scarce. We aim to characterize patients who underwent aortic surgery with a previously confirmed diagnosis of MFS at the Fundación Cardioinfantil-La Cardio from 2004 until 2021. An observational, descriptive case series study was performed. All patients with MFS who underwent an aortic surgical procedure between January 2004 and December 2021 were retrospectively included. Qualitative variables were presented as frequencies and percentages, whereas quantitative variables were presented as mean ± standard deviation. Kaplan-Meyer plots were used to describe cumulative and reintervention-free survival after the first intervention. Control appointments established out-of-hospital mortality in conjunction with government data and telephone calls. We identified 50 patients who underwent 56 aortic interventions (Table). The mean age was 38.79 ± 14.41 years, 68% were men, and the most frequent comorbidities were aortic valve regurgitation (66%) and hypertension (50%). Among the aortopathies identified, 70% were aortic aneurysms and 30% were aortic dissection. The predominant aneurysm location was in the aortic root (58%). Surgery was elective in 52%, urgent in 26%, and emergent in 22% of cases. Hemodynamic instability was the main indication for emergent surgery (90.9%). The most frequent surgical procedures were Tirone-David (53.5%), Bentall (14.2%), and thoracoabdominal aortic aneurysm repair (8.92%). A total of 74% of the patients required extracorporeal circulation. The in-hospital 30-day mortality was 4%. The main complications were stroke (10%) and acute kidney injury (6%). The average follow-up time was 108.6 ± 69.53 months. The reintervention rates at 1, 2.5, and 5 years were 10%, 14%, and 17%, respectively (Fig 1). The survival rates at 5, 10, and 15 years were 89%, 73%, and 68%, respectively (Fig 2). In our experience, surveillance programs are essential in the follow-up to maintain high survival rates and identify the need for reintervention. Nonetheless, timely diagnosis remains a concern in Latin America because 48% of patients in this study required urgent or emergent surgery. Further educational strategies must be implemented for health personnel to promptly identify this pathology and increase elective procedures, along with the involvement of the identified patients in follow-up programs.TableCharacteristics of the populationCharacteristicValueDemographic information Mean age, years38.79 ± 14.41 Male68% Female32% Tobacco consumption10% Overweight (BMI: 25.0-29.9 kg/m2)22% Obesity (BMI ≥30 kg/m2)4% Dyslipidemia10% Diabetes mellitus6% Hypertension50% Cardiac arrhythmias2% Chronic heart failure24% Aortic valve pathologyAortic valve regurgitation66%Aortic valve stenosis2% Mitral valve pathologyMitral valve regurgitation30%Mitral valve stenosis0% Coronary artery disease18% Previous cardiac surgery14% Peripheral artery disease10% Chronic obstructive pulmonary disease6% Chronic kidney disease6%Preoperative condition ASA scoreASA I0%ASA II26%ASA III50%ASA IV24%ASA V0% Urgent surgery26% Emergency surgery22%Hemodynamic instability90.9%Hypovolemic shock9.1% Elective surgery52% Aortic aneurysm64% Dissecting aortic aneurysms6% Aneurysm locationAortic root58%Ascending aorta8%Aortic arch6%Descending aorta10%Thoracoabdominal aorta12%Abdominal aorta2%Root + thoracoabdominal2%Root + abdominal2% Aortic dissection30% Standford classificationStandford A50%Standford B50%Surgical intervention characteristics Surgery performed56Tirone-David53.5%Bentall14.2%Thoracic aortic aneurysm repair1.78%Thoracoabdominal aortic aneurysm repair8.92%Abdominal aortic aneurysm repair1.78%Elephant trunk5.35%Frozen elephant trunk3.57%Full aortic arch repair3.57%Aortic hemiarch repair7.14% Mean length of intervention, minutes367.7 ± 96.2 Mean estimated bleeding, mL358.9 ± 286.1 Blood transfusion requirement40% Extracorporeal circulation74%In-hospital postoperative characteristics 30-day mortality4% Length of hospital stay, days8.25 ± 4.21 Length of ICU stay, days1.3 ± 1.2 Stroke10% Cardiac arrest2% Hypovolemic shock4% Vocal cord paralysis2% Acute kidney injury6% Dialysis requirement2%ASA, American Society of Anesthesiology; BMI, body mass index; ICU, intensive care unit. Open table in a new tab Fig 2Estimated survival rate among patients with Marfan syndrome (MFS) who underwent aortic surgical procedures at the Fundación Cardioinfantil-La Cardio from 2004 until 2021.View Large Image Figure ViewerDownload Hi-res image Download (PPT)