Evaluation of the clinical features of an outpatient cohort with Marfan syndrome.

Autor: Ribeiro WN; Escola Paulista de Medicina - Universidade Federal de São Paulo, SP, Brazil. Electronic address: wilma.ribeiro@unifesp.br., Leite WF; Escola Paulista de Medicina - Universidade Federal de São Paulo, SP, Brazil., Vallim ALVA; Escola Paulista de Medicina - Universidade Federal de São Paulo, SP, Brazil., Neto LLP; Escola Paulista de Medicina - Universidade Federal de São Paulo, SP, Brazil., João GA; Escola Paulista de Medicina - Universidade Federal de São Paulo, SP, Brazil., Moíses VA; Escola Paulista de Medicina - Universidade Federal de São Paulo, SP, Brazil.
Jazyk: angličtina
Zdroj: International journal of cardiology [Int J Cardiol] 2025 Jan 01; Vol. 418, pp. 132604. Date of Electronic Publication: 2024 Oct 02.
DOI: 10.1016/j.ijcard.2024.132604
Abstrakt: Marfan syndrome is a connective tissue disease with autosomal dominant inheritance and variable clinical presentation. The main clinical manifestations recognition could contribute to early diagnosis and cardiovascular complication prevention. We aimed to evaluate the clinical profile of a Marfan syndrome outpatient cohort.
Methods: Retrospective cross-sectional study was carried out with outpatients over 12 years of age whose electronic medical records contained the clinical information and complementary exams necessary for study inclusion. Data were analyzed using descriptive statistics and comparisons were performed using student's t-test and chi-square or Fisher's exact test. P-values<0.05 were considered statistically significant.
Results: 75 patients (29.5 ± 13.4 years) were included and 43(57 %) were female. Positive family history for the syndrome was observed in 55(73 %) patients and ectopia lentis in 37(49 %). Positive systemic score (≥7) was identified in 60(80 %) individuals and the most frequent score components were: skin striae in 64(85 %), scoliosis in 59(79 %), wrist and thumb sign in 45(60 %), moderate or severe myopia in 43(57 %) and plain flat foot in 40(53 %). Cardiovascular symptoms occurred in 17(23 %) patients: dyspnea in 10(13 %) and palpitations in 6(8 %). Mitral valve prolapse was observed in 32(43 %) participants and aortic root dilation (z-score ≥ 2) in 53(71 %), without significant difference between the groups with or without these alterations concerning sex, age, or symptom presence.
Conclusion: Clinical profile of a Marfan syndrome outpatient cohort includes adolescents and young adults, most without cardiovascular symptoms and with a high incidence of skeletal, ophthalmological, and cardiovascular involvement. Recognizing these clinical signs could contribute to early disease diagnosis in the general population.
Competing Interests: Declaration of competing interest The authors declare that there is no conflict of interest.
(Copyright © 2024 Elsevier B.V. All rights reserved.)
Databáze: MEDLINE
Externí odkaz: