Current Rheumatology Reviews

Dr. Serena Guiducci  
Department of Biomedicine, Division of Rheumatology
University of Florence
Florence
Italy

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Evolution and Analysis of Heterogeneity in the Clinical Expression of Aortic Diseases Similar to Marfan’s Syndrome: Challenge and Art in Clinical Diagnosis

Author(s): Maria Elena Soto, Rodolfo Barragan, Cuauhtemoc Vasquez, Eleazar Muruato-Ontiveros, Claudia Huesca, Ricardo Gamboa, Eduardo Enriquez-Rodriguez, Candace Keirns, Anahi Sarvelia Reyes Vidana, Nilda Espinola-Zavaleta.

Abstract:

Introduction: Marfan’s syndrome (MFS) is a dominant autosomal connective tissue disease that affects eyes, musculo-skeletal and cardiovascular systems. The initial evaluation must be meticulous. Because there are discrete clinical data only in aortic diseases similar to MFS. Objective: To conduct a retrospective evaluation of the diagnostic criteria applied upon admission of patients with MFS, the evolution of aortic deterioration, surgery, and survival over a period from 1983 to 2008. Material and Methods: Clinical, surgical and pathological records of patients diagnosed with Marfan’s syndrome were examined. Clinical findings, classification, established diagnoses, initial manifestations, duration of the disease, pathological findings, therapy, and survival were all re-evaluated. Results: A total of 166 patient files were studied. Seventy-eight had family histories of MFS. Seven did not fulfill the criteria for MFS, two might correspond to Shprintzen-Goldberg syndrome, three to Ehlers-Danlos syndrome, and two to Loeys-Dietz syndrome. Surgeries were performed in 63 adults. The survival rate of patients with aortic dilatation was 70% at 12 years. Survival diminished with aortic dissection. The mortality of the entire population was 14%. Conclusions: The evolution of MFS and other aortic diseases is variable. Cardiovascular damage is the factor that most commonly has an adverse effect on prognoses and must be under constant observation. Adding the Ghent criteria to clinical evaluation and attention to specific clinical findings can improve the classification of cases. Delays in diagnosis generally occur during the transition from adolescence to adulthood.

Keywords: Marfan’s syndrome, aortic dilatation, aortic dissection, fibrillinopathies, heterogenicity

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Article Details

VOLUME: 8
ISSUE: 1
Year: 2012
Page: [1 - 11]
Pages: 11
DOI: 10.2174/157339712801318948