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Clinical Characteristics of Marfan Syndrome in Korea
A Young Lim1, Ju Sun Song2, Eun Kyoung Kim1
1Division of Cardiology, Department of Medicine, Heart Vascular Stroke Institute, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Background And Objectives:
Marfan 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 Methods:
We 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.
Results:
The 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.
Conclusion:
We 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.
Insights
This study details Marfan syndrome (MFS) in Korean patients, finding common cardiovascular issues and FBN1 mutations. Ectopia lentis was less frequent, highlighting key MFS characteristics in this population.
Area of Science:
- Genetics and наследственные заболевания
- Cardiology
- Ophthalmology
Background:
- Marfan syndrome (MFS) is a genetic connective tissue disorder with diverse clinical presentations.
- Limited data exist on the specific clinical features and outcomes of MFS in the Korean population.
Purpose of the Study:
- To characterize the clinical features and outcomes of Korean patients diagnosed with Marfan syndrome.
- To provide insights into the prevalence of specific MFS manifestations and genetic mutations within this demographic.
Main Methods:
- A retrospective analysis of 343 Korean patients (≥15 years) diagnosed with MFS according to the revised Ghent nosology between 1995 and 2015.
- Exclusion of patients with related MFS disorders like MASS phenotype or ectopia lentis syndrome.
- Review of clinical data, including cardiovascular manifestations, ocular findings, family history, and genetic analysis (FBN1 mutations).
Main Results:
- Aortic root dilatation or dissection was present in 88.6% of patients.
- Ectopia lentis occurred in 55.1% of patients, and 73.8% had a systemic score of ≥7.
- FBN1 mutations were identified in 89.8% of genetically analyzed probands, with 32.1% experiencing aortic dissection or intramural hematoma.
Conclusions:
- Cardiovascular manifestations, particularly aortic root dilatation and dissection, are highly prevalent in Korean MFS patients.
- FBN1 mutations are common, while ectopia lentis is less frequent than in some other populations.
- These findings offer valuable information for the clinical evaluation and management of Marfan syndrome in Korea.
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