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