J Med Assoc Thai 2016; 99 (1):34

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Original ArticleOpen Access
Revised Ghent Criteria is Comparable to Original Diagnostic Criteria for Marfan Syndrome with Increased Ability to Clinically Diagnose Related Disorders
Penpattharakul W , Pithukpakorn M Mail

Background: Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with major features in cardiovascular, ocular, and skeletal systems. Due to its genetic heterogeneity and variable expressivity, Ghent nosology was established for clinical diagnosis of MFS. In 2010, Ghent diagnostic criteria were revised to better diagnose MFS and categorize its related disorders. There is no previous clinical comparison between the original and revised Ghent criteria for diagnosis of MFS in Thai patients.

Objective: To compare application and efficacy of Ghent and revised Ghent criteria in adult Thai patients with clinical suspicion of MFS.

Material and Method: This study was a retrospective analysis of patients with clinical suspicion of MFS who attended the Medical Genetics Clinic, Siriraj Hospital between January 2003 and December 2013. Patients were clinically examined for diagnosis of MFS using both the Ghent and revised Ghent criteria. Multidisciplinary data, including physical examination, echocardiography, slit-lamp examination, and genetic testing, were analyzed.

Results: Clinical and genetic data of 138 (77 males and 61 females) individuals with clinical suspicion of MFS were reviewed. The most common presentation was cardiovascular manifestation. Of 92 patients diagnosed as MFS by original Ghent nosology, 70 of those patients (76.1%) were also diagnosed as MFS by revised Ghent criteria. Forty-eight of 138 patients (34.8%) had undergone genetic testing, with FBN1 mutations detected in 23 patients. Twenty-two patients with detectable FBN1 mutations fulfilled both the Ghent and revised Ghent criteria. Of 22 patients whose diagnoses were not fulfilled by revised Ghent nosology, most were due to inadequate systemic score (SS). The use of revised Ghent nosology also facilitated improved diagnosis of MFS-related disorders.

Conclusion: Revised Ghent nosology has further differentiated MFS from other MFS-related disorders and has further expanded the classification of MFS-related disorders. Genetic testing of FBN1 helps physicians to more accurately diagnose patients with MFS and related disorders.

Keywords: Criteria, FBN1, Fibrillin, Ghent criteria, Marfan syndrome, Nosology, Revised Ghent criteria


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