Revised Ghent Criteria is Comparable to Original
Diagnostic Criteria for Marfan Syndrome with Increased
Ability to Clinically Diagnose Related Disorders
Worawan Penpattharakul MD*,
Manop Pithukpakorn MD**
Affiliation :
* Department of Internal Medicine, Suratthani Hospital, Suratthani, Thailand
** Division of Medical Genetics, Department of Medicine, Faculty of Medicine Siriraj Hospital,
Mahidol University, Bangkok, Thailand
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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