Challenges in prompt identification and surgical correction of Marfan Syndrome aortic disease in a middle-income country: a case series study.

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). CONCLUSION: 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.

Periodontitis in marfan syndrome: a case report

A Síndrome de Marfan é uma doença autossômica dominante do tecido conjuntivo, caracterizada por alterações nos sistemas cardiovascular, esquelético e ocular, e que pode aumentar a suscetibilidade à doença periodontal. Esse relato de caso descreve dados periodontais clínicos, microbiológicos e imunológicos de um paciente de 28 anos, gênero masculino, com diagnóstico clínico de Síndrome de Marfan. Neste caso, as principais alterações estão nos sistemas esquelético e ocular. A principal alteração intraoral é a presença de palato profundo e prognatismo mandibular. No exame clínico periodontal, a média do nível clínico de inserção foi de 2,35 mm e índice de sangramento à sondagem de 30%. O tratamento periodontal foi executado em uma sessão de debridamento e orientação de higiene oral, sob antibioticoterapia profilática. Na reavaliação, o paciente apresentou melhora nos parâmetros clínicos periodontais. O relato de caso apresenta um paciente com alterações leves, que afetam a saúde bucal. Em casos de Síndrome de Marfan, a manutenção da saúde periodontal é essencial para um bom prognóstico da saúde bucal.(AU)

Marfan syndrome is an autossomal dominant disorder of connective tissue characterized by alteration in cardiovascular, skeletal and ocular system, and may increase the susceptibility of periodontal disease. This case report describes the clinical, microbiological and immunological periodontal findings in a 28 year old male patient with a clinical diagnosis of Marfan syndrome. The major alterations of the case were in ocular and skeletal system. The major oral alterations were the high arched and narrow palate, and mandibular prognathism. At periodontal examination, an average clinical attachment level loss of 2.35 mm and 30% of bleeding on probing were found. The periodontal treatment was performed, in one session of periodontal debridement with prophylactic antibiotic premedication and oral hygiene instructions. At the revaluation, the patient showed improved clinical parameters. This case report presented a patient with mild features of a genetic disorder which affects oral health. The maintenance of periodontal health in Marfan syndrome cases is essential for a favorable prognosis of oral health.(AU)