A comparison of the ghent and revised ghent nosologies for the diagnosis of marfan syndrome in an adult korean population

Yang, Jeong Hoon; Han, Hyejin; Jang, Shin Yi; Moon, Ju Ryoung; Sung, Kiick; Chung, Tae‐Young; Lee, Heung Jae; Ki, Chang‐Seok; Kim, Duk Kyung

doi:10.1002/ajmg.a.34392

Cited by 30 publications

(22 citation statements)

References 23 publications

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“…Overall, the level of agreement between both nosologies was high: 89% versus 83% of patients met the old and new criteria, respectively, in 1,009 probands from the Marfan database (see below) [Faivre et al, 2012] and 81% versus 79% in 106 Korean patients [Yang et al, 2011]. However, up to 15% of cases received a different diagnosis such as Ectopia lentis syndrome or MASS according to the revised criteria [Faivre et al, 2012].…”

Section: Diagnostic Criteriamentioning

confidence: 99%

Genetic Dissection of Marfan Syndrome and Related Connective Tissue Disorders: An Update 2012

Hoffjan¹

2012

Mol Syndromol

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Marfan syndrome (MFS) is an autosomal dominant disorder of the connective tissue characterized by early development of thoracic aortic aneurysms/dissections together with symptoms of the ocular and skeletal systems. While most patients/families with a classic phenotypic expression of MFS harbour mutations in the gene encoding fibrillin-1 (FBN1), genetic studies of the recent years revealed that the clinical features, as well as the mutated genes, show a high degree of overlap between MFS and other connective tissue diseases (e.g. Loeys-Dietz syndrome, Ehlers-Danlos syndrome, familial thoracic aneurysms and dissections and others). We summarize herein the current knowledge about the wide spectrum of differential diagnoses and their genetic background as well as novel therapeutic approaches in order to provide appropriate counselling and clinical follow-up for the patients.

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Section: Diagnostic Criteriamentioning

confidence: 99%

Genetic Dissection of Marfan Syndrome and Related Connective Tissue Disorders: An Update 2012

Hoffjan¹

2012

Mol Syndromol

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“…Possible ethnic differences in the clinical manifestations of patients with MFS have been suggested 5). However, there are limited data available on the clinical features of Korean patients with MFS, and the available reports are based on only small numbers of patients 5)6). Therefore, the aim of the present study was to describe the clinical characteristics and outcomes of Korean patients with MFS.…”

Section: Introductionmentioning

confidence: 97%

Clinical Characteristics of Marfan Syndrome in Korea

et al. 2016

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Background and ObjectivesMarfan syndrome (MFS) is a connective tissue disorder with autosomal dominant inheritance and a highly variable clinical spectrum. However, there are limited data available on the clinical features of Korean patients with MFS. The aim of the present study was to describe the clinical characteristics and outcomes of Korean patients with MFS.Subjects and MethodsWe included all patients who were diagnosed with MFS between January 1995 and May 2015 at a single tertiary medical center. Patients with an MFS-related disorder including MASS phenotype (myopia, mitral valve prolapse, borderline and non-progressive aortic root dilatation, skeletal findings, and striae), mitral valve prolapse syndrome, and ectopia lentis syndrome were excluded. A total of 343 Korean patients aged ≥15 years who satisfied the revised Ghent nosology were included.ResultsThe mean patient age at diagnosis was 35.9±12.6 years and 172 (50.1%) patients were male. Median follow-up duration was 52.8 months. A total of 303 patients (88.6%) had aortic root dilatation with Z score ≥2 or aortic root dissection. Ectopia lentis was relatively less common (163 patients, 55.1%) and systemic score ≥7 was found in 217 patients (73.8%). Among 219 probands, a family history of MFS was present in 97 patients (44.5%) and sporadic cases in 121 patients (55.5%). Among the 157 probands who underwent genetic analysis, 141 (89.8%) had an FBN1 mutation associated with aortic root aneurysm/dissection. Aortic dissection (AD) or intramural hematoma (IMH) was identified in 110 patients (32.1%). Among the 221 patients without AD or IMH, descending aortic aneurysms were identified in 19 patients (8.6%). Two hundred thirteen patients (62%) underwent cardiovascular surgery of any type. Eight patients died during follow-up.ConclusionWe described the clinical characteristics and outcomes of Korean MFS patients. Cardiovascular manifestations were commonly detected and FBN1 mutation was present in approximately 90% of patients. In contrast, ectopia lentis was identified in approximately half of patients. Our findings will be informative for the evaluation of patients with MFS.

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“…Evaluation using the Ghent-2 nosology diminishes the inaccuracies in the diagnoses of MFS when compared with other nosologies (45,46). However, the method to predict z-score can be challenging with both pediatric and adult patients, and it warrants more review.…”

Section: Diagnostic Criteriamentioning

confidence: 99%

Overview of Marfan Syndrome: knowns and unknowns

Matkar

Chen

Leong‐Poi

et al. 2015

jcbmr

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Marfan syndrome (MFS) is a relatively rare disease of the connective tissue that affects several organs of the body. Cardiovascular abnormalities such as aortic root dilatation and mitral valve prolapse are the two main life-threatening complications associated with MFS. The complete pathogenesis of MFS is yet unclear. However, fibrillin-1 (FBN1) gene mutations and mutations in the transforming growth factor-β (TGFβ) signaling pathway are the leading causes of this lethal disease. Detailed assessment based on several major and minor clinical manifestations has led to the evolution of different nosologies for MFS diagnoses with reliable accuracies. Nevertheless, heterogeneous disease advancement and overlapping clinical outcomes make MFS diagnosis challenging. Rapid strides in research and surgical avenues over the last two decades have improved the life expectancy and the quality of life of MFS patients remarkably. More specific diagnostic criteria have been established, novel therapeutic targets for pharmacotherapy have been identified and validated, and newer surgical techniques have been tested. Current research efforts are focusing on the identification of prognostic biomarkers, gene modifiers, drug targets, and surgical procedures. This review aims to provide a brief overview of these aspects associated with MFS.

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A comparison of the ghent and revised ghent nosologies for the diagnosis of marfan syndrome in an adult korean population

Cited by 30 publications

References 23 publications

Genetic Dissection of Marfan Syndrome and Related Connective Tissue Disorders: An Update 2012

Genetic Dissection of Marfan Syndrome and Related Connective Tissue Disorders: An Update 2012

Clinical Characteristics of Marfan Syndrome in Korea

Overview of Marfan Syndrome: knowns and unknowns

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