Marfan syndrome in China: A collective review of 564 cases among 98 families

Sun, Qi; Zhang, Kai Zi; Cheng, Tsung O.; Li, Shu Lin; Lu, Bing Xin; Zhang, Zi Bin; Wang, Wei

doi:10.1016/0002-8703(90)90213-h

Cited by 22 publications

(7 citation statements)

References 36 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“… 28 A second study that screened 29,067 children from 18 provinces and cities of the People’s Republic of China from 1951 to 1987 reported five children with MFS, giving a prevalence of 17.2 per 100,000 of the population, with a gene frequency of 8.61 per 100,000 inhabitants, and a penetrance of 71.69%. 29 A study of the population of Tayside and northeast Scotland identified 30 patients with MFS alive on prevalence day June 30, 1991, corresponding to an estimated prevalence of 1:14,691 or 6.81 per 100,000 inhabitants. 30 Based on 239 persons (122 males, 117 females) with MFS who were alive and living in Denmark by January 1, 1993, a fourth nation-wide study from Denmark identified a prevalence of 4.6 persons with MFS per 100,000 of the Danish population with an estimated average birth rate of 0.96 per 10,000 live born.…”

Section: Prevalence Of Mfsmentioning

confidence: 99%

Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome

Kodolitsch¹,

Backer²,

Schuler³

et al. 2015

TACG

140

122

View full text Add to dashboard Cite

Three international nosologies have been proposed for the diagnosis of Marfan syndrome (MFS): the Berlin nosology in 1988; the Ghent nosology in 1996 (Ghent-1); and the revised Ghent nosology in 2010 (Ghent-2). We reviewed the literature and discussed the challenges and concepts of diagnosing MFS in adults. Ghent-1 proposed more stringent clinical criteria, which led to the confirmation of MFS in only 32%–53% of patients formerly diagnosed with MFS according to the Berlin nosology. Conversely, both the Ghent-1 and Ghent-2 nosologies diagnosed MFS, and both yielded similar frequencies of MFS in persons with a causative FBN1 mutation (90% for Ghent-1 versus 92% for Ghent-2) and in persons not having a causative FBN1 mutation (15% versus 13%). Quality criteria for diagnostic methods include objectivity, reliability, and validity. However, the nosology-based diagnosis of MFS lacks a diagnostic reference standard and, hence, quality criteria such as sensitivity, specificity, or accuracy cannot be assessed. Medical utility of diagnosis implies congruency with the historical criteria of MFS, as well as with information about the etiology, pathogenesis, diagnostic triggers, prognostic triggers, and potential complications of MFS. In addition, social and psychological utilities of diagnostic criteria include acceptance by patients, patient organizations, clinicians and scientists, practicability, costs, and the reduction of anxiety. Since the utility of a diagnosis or exclusion of MFS is context-dependent, prioritization of utilities is a strategic decision in the process of nosology development. Screening tests for MFS should be used to identify persons with MFS. To confirm the diagnosis of MFS, Ghent-1 and Ghent-2 perform similarly, but Ghent-2 is easier to use. To maximize the utility of the diagnostic criteria of MFS, a fair and transparent process of nosology development is essential.

show abstract

Section: Prevalence Of Mfsmentioning

confidence: 99%

Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome

Kodolitsch¹,

Backer²,

Schuler³

et al. 2015

TACG

140

122

View full text Add to dashboard Cite

show abstract

“…In 1958, Lynas et al reported a prevalence of 1.5/100,000 in a population from Northern Ireland [ 9 ]. Sun et al reported a prevalence of 17.2/100,000 in China in 1990 [ 10 ]. Gray et al [ 11 ] reported a prevalence of 6.8/100,000 in the north-east Scottish population.…”

Section: Introductionmentioning

confidence: 99%

Prevalence, incidence, and age at diagnosis in Marfan Syndrome

Groth

Hove

Kyhl

et al. 2015

Orphanet J Rare Dis

144

113

View full text Add to dashboard Cite

BackgroundMarfan syndrome is a genetic disorder with considerable morbidity and mortality. Presently, clinicians use the 2010 revised Ghent nosology, which includes optional genetic sequencing of the FBN1 gene, to diagnose patients. So far, only a few studies based on older diagnostic criteria have reported a wide range of prevalence and incidence. Our aim was to study prevalence, incidence, and age at diagnosis in patients with Marfan syndrome.MethodUsing unique Danish patient-registries, we identified all possible Marfan syndrome patients recorded by the Danish healthcare system (1977–2014). Following, we confirmed or rejected the diagnosis according to the 2010 revised Ghent nosology.ResultsWe identified a total of 1628 persons with possible Marfan syndrome. We confirmed the diagnosis in 412, whereof 46 were deceased, yielding a maximum prevalence of 6.5/100,000 at the end of 2014. The annual median incidence was 0.19/100,000 (range: 0.0–0.7) which increased significantly with an incidence rate ratio of 1.03 (95 % CI: 1.02–1.04, p < 0.001). We found a median age at diagnose of 19.0 years (range: 0.0–74). The age at diagnosis increased during the study period, uninfluenced by the changes in diagnostic criteria. We found no gender differences.ConclusionThe increasing prevalence of Marfan syndrome during the study period is possibly due to build-up of a registry. Since early diagnosis is essential in preventing aortic events, diagnosing Marfan syndrome remains a task for both pediatricians and physicians caring for adults.

show abstract

“…We must focus our attention on the fact that skeletal manifestations that most usually set the diagnosis in Marfan patients, may be slightly distinguishable from the common tall, asthenic, healthy subjects that present spontaneous pneumothorax and as a result many of them go unrecognised. One must always have in mind that the frequency of this syndrome is reported to be 6 persons per 100,000 inhabitants [4], although in China the incidence is higher and appears to be 17 per 100,000 [5]. Undoubtedly the real prevalences exceed these numbers, as mild cases usually remain undiagnosed.…”

Section: Discussionmentioning

confidence: 99%

Spontaneous pneumothorax: are we missing something?

Kouerinis

Hountis

Loutsidis

et al. 2004

Interactive Cardiovascular and Thoracic Surgery

View full text Add to dashboard Cite

Most thoracic surgeons overlook the fact that spontaneous pneumothorax is one of the pulmonary complications of connective tissue disorders such as Marfan or Ehlers-Danlos syndromes, and they consider it as primary. In the following report we describe a unique case of spontaneous rupture of the sigmoid secondary to a spontaneous recurrent contralateral pneumothorax in a young patient with undiagnosed Marfan syndrome. The aim of this presentation is to raise a high index of suspicion of every thoracic surgeon to include in his differential diagnosis the connective tissue disorders in any case of spontaneous pneumothorax and if so, to follow further diagnostic procedures to anticipate any other visceral complications.

show abstract

Marfan syndrome in China: A collective review of 564 cases among 98 families

Cited by 22 publications

References 36 publications

Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome

Perspectives on the revised Ghent criteria for the diagnosis of Marfan syndrome

Prevalence, incidence, and age at diagnosis in Marfan Syndrome

Spontaneous pneumothorax: are we missing something?

Contact Info

Product

Resources

About